Definitive Histological Diagnosis Research Articles

Ten missteps in the management of inflammatory bowel disease in Asia: An expert report by the Asian Pacific Association of Gastroenterology Working Group on Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD) is rapidly emerging in the Asia Pacific region. However, there are many challenges in the diagnosis and management of this condition. The Asian Pacific Association of Gastroenterology (APAGE) Working Group on IBD conducted a round table meeting to identify 10 common mistakes in the management of IBD in Asia. To summarize, many physicians still over rely on a definitive histological diagnosis before starting treatment and do not fully establish disease extent such as perianal and proximal gastrointestinal involvement in Crohn's disease (CD) or extent of involvement in ulcerative colitis (UC). It is also essential to actively look for evidence of extra-intestinal manifestations, which may influence choice of therapy. In terms of conventional therapy, underuse of topical 5 aminosalicylates (5-ASAs) in UC and inappropriate dosing of corticosteroids are also important considerations. Acute severe UC remains a life-threatening condition and delay in starting rescue therapy after inadequate response to intravenous steroids is still common. Anti-tumor necrosis factors should be considered first line in all cases of complex perianal fistulizing CD. Most patients with IBD are on potent immunosuppressive therapy and should be screened for latent infections and offered vaccinations according to guidelines. Under-recognition and management of significant complications such as anemia, osteoporosis, malnutrition, and thromboembolism should also be addressed. Colonoscopy is still not properly performed for dysplasia/cancer surveillance and for evaluating post-op recurrence of CD. Another common misstep is inappropriate withdrawal of medications during pregnancy leading to increased complications for the mother and the newborn.

RNAscope: a novel method for the detection of Heterobilharzia americana ova in canine liver.

Canine schistosomiasis caused by Heterobilharzia americana can lead to severe morbidity and eventual mortality, in part due to the deposition of fluke ova in the liver and gastrointestinal tract, which promotes an influx of peri-ova inflammatory cells. Although fluke eggs can be identified in H&E-stained histologic sections, cases exist in which only fragments of the ova persist, or the egg is obscured by inflammatory infiltrates, which can confound definitive histologic diagnosis. Unfortunately, antibodies specific to Heterobilharzia are not commercially available for immunohistochemical labeling. Therefore, we aimed to use an RNA in situ hybridization strategy to fluorescently label Heterobilharzia ova. Using the H. americana 18S rRNA sequence, we developed an RNA probe and validated its performance on archival formalin-fixed, paraffin-embedded canine tissue. A positive signal was observed for all identifiable ova, fragmented and whole. Use of this methodology could aid understanding of the pathogenesis of H. americana infection in dogs. This technique augments standard diagnostic methodology, enabling spatial colocalization of fluke ova and inflammatory infiltrates when using fluorescent techniques.

Unveiling the uncommon: Lichenoid esophagitis secondary to Steven Johnson syndrome

Lichenoid Esophagitis (LE) is a rare pathology characterized by inflammation of the esophagus resembling a lichenoid pattern for which a precise histological diagnosis cannot be established. The diagnosis of LE is often challenging due to its nonspecific clinical presentation and lack of a definitive histological diagnosis. LE can cause various complications, including esophageal strictures, Barrett’s esophagus, dysphagia, esophageal ulcers, and an increased risk of esophageal cancer. Treatment options include proton pump inhibitors, dietary changes, and corticosteroids. In this report, we describe the case of a 47-year-old female who developed lichenoid esophagitis due to SJS as a result of sulfasalazine therapy.

Predicting the WHO Grading of Pediatric Brain Tumors Based on Their MRI Appearance: A Retrospective Study.

The treatment of central nervous system (CNS) tumors constitutes a significant part of a pediatric neurosurgeon's workload. The classification of such neoplasms spans many entities. These include low- and high-grade lesions, with bothoccurring in the population of patients under 18 years of age. Magnetic resonance imaging serves as the imaging method of choice for neoplastic lesions of the brain. Through its different modalities, such as T1, T2, T1 C+,apparent diffusion coefficient (ADC), diffusion-weighted imaging (DWI), susceptibility-weighted imaging(SWI), fluid-attenuated inversion recovery(FLAIR), etc., it allows the medical team to plan the therapeutic process accordingly while also possibly suggesting the specific tumor subtype prior to obtaining a definitive histological diagnosis. We conducted a retrospective study spanning 32 children treated surgically for brain tumors between July 2021 and January 2023 who had a precise histological diagnosis determined by using the 2021 WHO Classification of Tumors of the Central Nervous System. We divided them into two groups (high-grade and low-grade tumors, i.e., WHO grades 1 and 2, and grades 3 and 4, respectively) and analyzed their demographic data and preoperative MRI results. This was done using the following criteria: sub or supratentorial location of the tumor; lesion is circumscribed or infiltrating; solid, cystic, or mixed solid and cystic character of the tumor; number of compartments in cystic lesions; signal intensity (hypo-, iso-, hyperintensitysequences: T1, T2, T1 C+); presence of restricted diffusion; the largest diameter of the solid component and/or the largest diameter of the largest cyst in the transverse section. Then, we examined the results to find any correlation between the lesions' morphologies and their final assigned degree of malignancy. We found that the only radiological criteria correlating with the final WHO grade of the tumor were an infiltrative pattern of growth (25% of low-grade lesions, 75% of high-grade; p = 0.006) and the presence of a cystic component in the tumor (in 68.75% of low-grade tumors and 43.75% of high-grade tumors; p = 0.041). The only other feature close to attaining statistical significance was diffusion restriction (33.3% of low-grade tumors, 66.7% high-grade; p = 0.055). Older children tended to present with tumors of lower degrees of malignancy, and there was a predominance of female patients (21 female, 11 male).

False positive PET-CT imaging after application of fibrin-based sponge at the site of previous hepatic resection for colo-rectal metastasis: A short series

Surgical resection is the treatment of choice with curative intent for colorectal liver metastasis. Preoperative accurate radiological staging is key for optimal treatment. Fluorine-18 fluorodeoxyglucose PET-CT (PETCT) is effective for this purpose. We present 4 cases of patients with history of hepatectomy for colorectal liver metastasis. In all patients, during the procedure, we used fibrin-based sponge to achieve optimal haemostasis of the parenchymal transection surface. During the oncologic follow-up, a suspicion of disease recurrence justified a staging PET-CT that revealed pathologic metabolic activity on sites of previous liver resection, highly suspicious of tumour recurrence. The delay between hepatectomy and PET-CT for recurrence ranged from 5 to 12 months. In all cases, a new surgical exploration was performed after neoadjuvant chemotherapy, and PET-CT positive sites of previous liver resection were removed. Definitive histological diagnosis showed inflammatory granuloma or fibrous tissue.

Patterns of recurrence in FIGO stage IB1-IB2 cervical cancer: Comparison between minimally invasive and abdominal radical hysterectomy

ObjectiveAim of our study was to evaluate whether the different laparotomic (ARH) or minimally invasive (laparoscopic and robotic) approaches (MIS) in FIGO stage IB1-IB2 cervical cancer, present different patterns of recurrence of the disease. The secondary endpoint of the study was the evaluation of the variables most involved with the risk of relapse and therefore lower DFS and OS. Material and methodsThe study enrolled patients with definitive histological diagnosis of squamous or adenocarcinoma stage IB1-IB2 cervical cancer who underwent minimally invasive or abdominal radical hysterectomy from 2001 to 2018. ResultsThe study enrolled 360 patients and 59 patients (16.4 %) reported a disease relapse. The data showed that ARH group was not associated with different recurrence patterns than MIS group (p = 0.14). Moreover, there was no statistically significant difference regarding DFS (p = 0.52) and OS (p = 0.29) between the ARH group and the MIS group. ConclusionsMIS, in FIGO stage IB1-IB2 cervical cancer, is not associated with different relapse patterns compared to ARH, nor with a higher risk of distance metastasis and finally, without significant difference in term of DFS and OS. More studies are needed to determine the factors that modify the site of relapse.

The T2FLAIR mismatch novel radiogenomic marker in the newly suspected low-grade gliomas

Background. The T2-FLAIR (fluid-attenuated inversion recovery) mismatch sign has been defined over the last few years as an important novel radiogenomic marker highly suggestive of isocitrate dehydrogenase mutated (IDH-mut) 1p19q non-codeleted gliomas (astrocytomas). Existing studies have demonstrated that this has good specificity but limited sensitivity for IDH-mut astrocytomas. Thenew 2021 WHO Classification of Tumors of the Central Nervous System (WHO CNS5) has introduced a layered grading system in which all IDH mutant diffuse astrocytic tumours are considered a single type (Astrocytoma, IDH-mutant) and are graded as CNS WHO grade 2, 3, or 4. Because of the growing importance of molecular information in CNS tumour classification, diagnoses and diagnostic reports need to combine different data types into a single diagnosis. Whether the T2FLAIR mismatch sign is of clinical relevance for the management of low-grade gliomas still needs to be further determined.Methods. We included histologically verified supratentorial low-grade gliomas (LGG) WHO grade 2-3 retrospectively during the period 2013–2018 (n=18). For the period 2019–2023 (n=27), patients with a radiological presumptive diagnosis of low-grade glioma were prospectively included, and we took into consideration the fact that in this group we could encounter other diagnoses than glioma.Clinical, radiological and histology data were collected. We aimed to examine the association of the T2-FLAIR mismatch sign (where identified) with clinical factors and outcomes. We evaluated the diagnostic reliability of the mismatch sign and its relation to the definitive histological diagnosis, the co-existence of an MR spectroscopy signature; we have also tried to determine whether the identification of the radiogenomic marker had any impact on the clinical outcome through the decision-making in neurosurgical management.Results. Out of 45 patients with radiological suspected glioma, 30 had a definitive diagnosis of diffuse astrocytoma grade 2 and 3 (Astrocytoma, IDH-mutant according to WHOCNS5). 6 patients had a diagnosis of glioblastoma (Glioblastoma, IDH-wildtype according to WHOCNS5). 8 patients have been diagnosed with oligodendroglioma (Oligodendroglioma, IDH-mutant, and 1p/19q-codeleted according to WHOCNS5) and 1 case had a definitive histology of cerebral abscess. Out of the 30 patients with IDH-mut astrocytoma, 6 (20.0%) showed a mismatch sign. The sensitivity and specificity of the mismatch sign for IDH-mut astrocytoma detection were 20% and98.6%, respectively. There were no differences between patients with an IDH-mut astrocytoma with or without T2FLAIR mismatch sign when grouped according to this with related to baseline characteristics, clinical outcome and presenting symptoms. MR spectroscopy sequences were analyzed where available for the retrospective and prospective cohort. There were 7 cases where MR spectroscopy was performed and, for the IDH-mut astrocytoma cases (n=4) it showed a persistent high Cho/NAA ratio without any difference between the patients with or without the T2FLAIR mismatch sign.Conclusion. In our relatively small retrospective and prospective cohorts, the T2-FLAIR mismatch sign, where identified, was not correlated with clinical features at presentation, prognosis or outcome. Until recently, the grading of CNS tumours has been focusing mainly on histology characteristics, but specific molecular markers can now be used for valuable prognostic information. For this reason, molecular-specific information has been added as an essential feature in grading and it is considered very useful for further estimation of prognosis within variable tumor types. We could not determine if the IDH-mut astrocytomas with mismatch sign represent a specific subgroup. Our study has confirmed that the T2-FLAIR mismatch sign is a reliable and specific marker of IDH-mut astrocytomas.

Correlation between high-resolution computed tomography appearance and histopathological features in the diagnosis of interstitial lung diseases. A real-life study.

According to current guidelines, a surgical biopsy is rarely required when a high-confidence radiologic interstitial lung disease (ILD) diagnosis is made on thin-section high-resolution computed tomography (HRCT). Nevertheless, disowning HRCT scans diagnosed by biopsy are more common than presumed. Our study aimed to describe the concordance rate between HRCT scans and pathological diagnoses of ILDs obtained by surgical biopsy. The current guideline suggests the use of surgical lung biopsy (SLB) in patients with newly detected ILD of unknown cause. Patients who underwent mini-invasive surgical biopsies for interstitial lung diseases from January 2018 to August 2022 were analyzed. The HRCT scans were reviewed by an observer blinded to the patient's clinical information. The concordance between histological and HRCT-scan were assessed. Data from 104 patients with uncertain low confidence diagnosis of interstitial lung diseases at HRCT were analyzed. Most of the patients are male (65; 62.5%). The more frequent HRCT pattern were: alternative diagnoses (46; 44.23%), UIP probable (42; 40.38%), UIP indeterminate (7; 6.73%), and non-specific interstitial pneumonia (NSIP) (9, 8.65%). The more common histological diagnosis was UIP definite (30; 28.84%), hypersensitivity pneumonia [HP](19; 18.44%), NSIP (15; 14.42%), sarcoidosis (10; 9.60%). In 7 (20%) cases, the final pathological finding denies HRCT-scans diagnoses; indeed, a moderate agreement was observed between HRCT-scan findings and the definitive histological diagnosis (kappa index: 0.428). HRCT-scan has limitations if the objective is to define interstitial lung diseases accurately. Consequently, pathological assessment should be taken into account in order to provide more accurate tailored treatment strategies because the risk is to wait from 12 to 24 months to ascertain if the ILD will be treatable as progressive pulmonary fibrosis (PPF). Undeniably true, video-assisted surgical lung biopsy (VASLB) with endotracheal intubation and mechanical ventilation is associated with a risk of mortality and morbidity that is far from nil. Nevertheless, in recent years a VASLB approach performed in awake subjects under loco-regional anesthesia (awake-VASLB) has been suggested as an effective method to obtain a highly confident diagnosis in patients with diffuse pathologies of the lung parenchyma.

Long term experience of robotic retroperitoneal partial nephrectomy as the default approach in the management of renal masses: should the paradigm shift?

Although retroperitoneal surgery has demonstrated a better quality of recovery compared to transperitoneal routes, Retroperitoneal Robot Assisted Partial Nephrectomy (RRAPN) remains proportionally infrequent. As the boundaries of what is achievable robotically continue to be pushed, we present our experience at a high-volume tertiary referral centre that specialises in retroperitoneal surgery, exploring its feasibility as standard of care in the management of small renal masses. A prospective database of 784 RAPNs (2009-2020) was reviewed and 721 RRAPNs (92%) were performed at our centre. In our practice, we utilise a four-port approach to RRAPN. Patient, tumour and operative characteristics were assessed and both oncological outcomes and trifecta and pentafecta achievements were determined. Pentafecta was defined as achieving trifecta (negative surgical margin, no post-operative complications and WIT of < 25min) plus over 90% estimated GFR preservation and no CKD stage upgrading at 1year. Multivariate analysis was conducted to predict peri-operative factors which may prevent achieving a trifecta/pentafecta outcome. From 784 cases, 112 RAPNs were performed for imperative reasons, whilst the remainder were elective. Mean BMI ± s.d amongst our cohort was 28.6 ± 5.7. Mean tumour size was 3.1cm (range 0.8-10.5cm) and 47% of cases were stratified as intermediate/high risk using R.E.N.A.L nephrometry scoring. Forty-six patients had lesions in a hilar location, and 31% were anterior. Median blood loss was 30mls, with an open conversion rate of 1% and transfusion rate of 1.6%. Median warm ischaemic time (WIT) was 21min, positive surgical margins were found in 4% and our post-operative Clavien 3/ > complication rate was 2.6%. We had a 1-day median length of stay with a 30day readmission rate of 2%. Of 631 patients (80%) with a definitive histological diagnosis of cancer, 23% had T1b/ > disease. Over a mean 15month follow-up period (range 1-125months), 2% of patients developed recurrences and our cohort demonstrated a 99% 5year cancer specific survival. Trifecta was achieved in 67% of cases and pentafecta in 47%. Age (p = 0.05), operative time (p = 0.008), pT1b tumours (p = 0.03), R.E.N.A.L score and blood loss (p = 0.001) were found to statistically significantly influence achievement of trifecta. Pentafecta achievement was influenced by R.E.N.A.L score (p = 0.008), operative time (p = 0.001) and blood loss (p = 0.001). We demonstrate the retroperitoneal approach in RAPN is feasible and safe irrespective of lesion location and complexity. In the hands of high-volume centres that are skilled in the retroperitoneal approach the benefits of retroperitoneal surgery can be extended even to challenging cohorts of patients without compromising their oncological or functional outcomes.

HPV genotyping of cervical histologic specimens of 61, 422 patients from the largest women hospital in China.

We investigated HPV genotypes in a large cohort of patients with definitive cervical histologic diagnosis. HPV testing was performed by real-time PCR assay, including 18 high-risk HPV (hrHPV) and 3 low-risk HPV (lrHPV). Totally 61,422 patients with documented HPV genotyping results within 6 months before cervical histologic diagnoses were included. HrHPV positive rate was 55.1% among all tested cases with the highest in adenosquamous carcinoma (94.1%), followed by squamous cell carcinoma (SCC) (93.7%), cervical intraepithelial neoplasia 2/3 (CIN2/3) (92.8%). HrHPV positive rates were significantly higher in high-grade squamous lesions than in those in glandular lesions. HPV16 was the most common genotype followed by HPV52 and HPV58 in CIN2/3. The most frequent hrHPV genotype in adenocarcinoma in situ (AIS) was HPV18, followed by HPV16, HPV45 and HPV52. In SCC cases, HPV16 was the most common type followed by HPV58, HPV52, HPV18 and HPV33. However, HPV18 showed significantly higher prevalence in adenocarcinoma and adenosquamous carcinoma than in that in SCC. Theoretically, the protective rates of 2/4-valent and 9-valent vaccine were 69.1% and 85.8% for cervical cancers. The prevalence of HPV genotypes in Chinese population was different from that in Western population. Some hrHPV types were identified in cervical precancerous lesions and cancers, which are not included in current HPV vaccines. These data provide baseline knowledge for future HPV vaccine development.

Pediatric thyroid surgery: Retrospective analysis on the first 25 pediatric thyroidectomies performed in a reference center for adult thyroid diseases.

Pediatric thyroid carcinoma represents about 4-5% of all pediatric carcinoma with an incidence of 0.5 cases/100,000, compared to 2-10/100000 cases in the adult population. The aim of this study is to present the experience of a reference adult endocrine surgery unit in charge of the treatment of pediatric thyroid diseases. From January 2019 to September 2022, 25 patients, aged 5-17, underwent thyroid surgery. We analysed indications for surgery, use of intraoperative nerve monitoring (IONM), definitive histological examination, postoperative outcomes and risk factors related. Surgical indication was performed for Graves' disease (27%) and for nodular pathology (73%): of these, four were malignant lesions (TIR4/TIR5), eight with indeterminate characteristics (TIR3A/TIR3B) and four characterized as benign (TIR1/TIR2). Total thyroidectomy (TT) was performed in 76% of cases, three of which were prophylactic for the activation of the RET gene mutation in MEN 2A. IONM was used in eight cases (32%), all patients aged 11 years or less. FNA's accuracy was 100% for lesions typified as benign and malignant (TIR1/TIR2 and TIR4/TIR5). The overall malignancy rate achieved was 40% and in the final histological examination 75% of the TIR 3B lesions were malignant. Six patients (24%) developed hypoparathyroidism in the first postoperative day, with normalization of calcium values within thirty days in 5 patients. Pediatric thyroid nodules are rare and distinguished from adult thyroid disease by a worse prognosis and higher malignancy rates. Our work reports a much higher malignancy rate among indeterminate TIR 3B lesions than observed in the adult population and the three patients who underwent prophylactic total thyroidectomy for activating RET gene mutation had all a definitive histological diagnosis of medullary carcinoma. Post-surgical hypoparathyroidism is a common finding in these patients: in most cases the condition is transient and it benefits from supportive therapy. Intraoperative finding of a thinner recurrent laryngeal nerve in younger patients makes nerve isolation more difficult than in adult surgery: IONM is recommended in patients under 12. Pediatric thyroid surgery is challenging, we sustain it requires referral thyroid Centers for thyroid disease with highly skilled general endocrine surgeons.

Cotyledonoid dissecting leiomyoma: case report of a rare subtype

Leiomyomas are the most common benign mesenchymal uterine tumour. The vast majority of these have a typical macroscopic and histological appearance. Approximately 10% of leiomyomas are subtyped due to unusual macroscopic or microscopic differences. Cotyledonoid dissecting leiomyomas are considered one of the rarer subtypes of leiomyoma, with distinct macroscopic features that can be worrying for malignancy and require histological correlation for diagnosis. Whilst common leiomyomas will present with a well circumscribed cream cut surface, cotyledonoid dissecting leiomyomas often present as a large fungating mass with a red to brown nodular appearance. Despite the macroscopic differences, histologically, these nodules show the typical benign spindled smooth muscle cells that are found in the classic type. This report presents a case of cotyledonoid dissecting leiomyoma where both clinical and radiological review were unable to ascertain the nature of the lesion, given the unusual macroscopic appearance, and a definitive histological diagnosis was required.

CT features of malignant tubular genital tract tumors in seven goats.

Neoplasia of the tubular genital tract in goats, while rarely described, is most commonly reported as uterine adenocarcinoma, leiomyoma, or leiomyosarcoma. In this retrospective, single-center, case series, medical records were searched for goats with a computed tomography (CT) diagnosis of tubular genital mass and a definitive histologic (surgical biopsy or necropsy) diagnosis of malignant neoplasia. Data recorded from CT images were presence of peritoneal/retroperitoneal fluid, urinary tract obstruction, abdominal lymphadenomegaly, additional abdominal nodules/masses, and pulmonary nodules. For masses, maximum cross-sectional area, contrast enhancement, and uterine luminal fluid accumulation were also recorded. Seven goats met the inclusion criteria (leiomyosarcoma n = 5, adenocarcinoma n = 2). Both goats with adenocarcinoma had upper urinary tract obstruction, moderate to severe regional lymphadenopathy, peritoneal fluid, and peritoneal or hepatic nodules/masses; one goat with adenocarcinoma was discharged and subsequently euthanized, and the other had palliative mass debulking and was lost to follow up. Goats with leiomyosarcoma had infrequent, mild peritoneal fluid and mild sublumbar lymphadenopathy. Of the goats with leiomyosarcoma, two were euthanized at or near the time of CT imaging, two were euthanized at the time of surgery due to perceived mass non-resectability, and one had mass regression approximately four months post ovariohysterectomy but was subsequently lost to follow up. Five goats had pulmonary nodules, three of which had pathologic confirmation (pulmonary metastasis in a single patient with adenocarcinoma, and lungworm granulomas in two goats with leiomyosarcoma). Severe sublumbar lymphadenopathy and obstructive uropathy were sequelae in the two caprine patients with genital adenocarcinoma, and in none with leiomyosarcoma.

The impact of the COVID-19 pandemic on diagnosis and treatment of patients with soft tissue and bone sarcomas or aggressive benign musculoskeletal diseases: A single-center retrospective study (SarCorD study)

BackgroundThe COVID-19 pandemic led to a rapid reorganization of healthcare activities, leading to reduced access to clinics, interruption of screenings, and treatment schedule modifications in several cancer types. Few data are available on sarcomas. We analyzed COVID-19-related diagnostic delay in a sarcoma referral center in Italy.MethodsWe retrospectively enrolled in this study patients with histological diagnosis of soft tissue or bone sarcoma and aggressive benign musculoskeletal diseases obtained during the first year of the pandemic (Covid group) or the year before (Control group) and followed at the Regina Elena National Cancer Institute in Rome. The primary endpoint was the time from the first symptom to histological diagnosis.ResultsWe evaluated 372 patients, 185 of whom were eligible for primary endpoint analysis (92 patients in the Control group and 93 patients in the Covid group). The patients were affected by soft tissue sarcoma in most cases (63.0% and 66.7% in Covid and Control groups, respectively). We observed a diagnostic delay in the Covid group with a median time from the first symptom to the definitive histological diagnosis of 103.00 days (95% CI 92.77–113.23) vs. 90.00 days (95% CI 69.49–110.51) in the Control group (p = 0.024), but not a delay in treatment beginning (151 days, 95% CI 132.9–169.1 vs. 144 days, 95% CI 120.3–167.7, respectively, p = 0.208). No differences in stage at diagnosis were observed (12% vs. 16.5% of patients with metastatic disease at diagnosis in the Covid and Control groups, respectively, p = 0.380). Progression-free survival (p = 0.897) and overall survival (p = 0.725) were comparable in the subgroup of patients affected by soft tissue sarcoma.ConclusionsA delay in sarcoma diagnosis but not in starting treatment has been observed during the first year of the COVID-19 pandemic. Nevertheless, no difference in stage at diagnosis or in terms of survival has been observed.

Diagnostic challenges and treatment options in patients with solitary fibrous tumor: A single-center observational study.

IntroductionSolitary fibrous tumor (SFT) is an extremely rare disease with a high misdiagnosis rate and a potentially malignant biologic nature. We have collected and analyzed data from 18 SFT patients to provide a deeper insight into this uncommon disease entity.MethodsIn our study, 18 patients who had undergone surgery between April 2014 and December 2021 for the diagnosis of SFT were evaluated. The collected data for each patient included the location of the SFT, the preoperative diagnosis, the definitive histological diagnosis, the presence of postoperative complications, the time of recurrence, the time of systemic progression, the type of treatment, and the survival rate. The median follow-up was 36 months.ResultsIn three patients, the preoperative diagnosis did not correlate with the definitive histology of SFT. In patients with the limb location of SFT, no signs of recurrence nor distant metastases were seen within the study period. In total, 50% of the postsurgical complications were associated with the abdominal location of the SFT. In newly diagnosed SFT patients, two patients (20%) developed local recurrence, and the median time until recurrence was 22.5 months. Out of patients that were admitted and operated on for recurrent SFT, 67% relapsed, and the median time to relapse was 9.5 months. The systemic progression of the disease was observed in 33% of patients treated for recurrent SFT.ConclusionIn our study, the misdiagnosis rate was high and correlated with previously published studies. Postsurgical complications were associated with the extrathoracic location of SFT. The mainstay of SFT treatment remains radical surgery, although radiotherapy alone can significantly improve overall survival. Clinical trials are urgently needed to evaluate the potential effect of other treatment modalities, such as immunotherapy and targeted therapy, in SFT patients.

Evaluation of patients with pathological fractures treated by standard trauma principles but neglecting the underlying malign bone disease

IntroductionThere are several studies in the literature about pathological fractures but almost no information about patients whose pathological fracture caused by a malignant lesion misdiagnosed and treated as a simple fracture. The aim of this study was to investigate patient and fracture characteristics, and outcomes in cases where fractures occurred in the presence of a malign pathology but were treated as simple fractures. Patients and MethodsCases of malign bone lesions between 2000 and 2020 were retrospectively reviewed. Patients with a final diagnosis of malign bone lesion but whose pathological fractures were treated ignoring the underlying malign bone disease were included. Demographic, clinical and outcome data were collected from patient's medical records and analyzed. ResultsSix patients met the inclusion criteria. Three of the patients were female and the cohort mean age was 56.8 ± 21.8 years at the time of admission. Patient diagnoses were: renal cell carcinoma metastasis (n = 1); colon cancer metastasis (n = 1); chondrosarcoma (n = 2); osteosarcoma (n = 1); and undifferentiated pleomorphic sarcoma of bone (n = 1). In all cases surgical management differed from those that should have been applied if the pathological fracture had been identified. Furthermore, surgical management after definitive histological diagnosis were more aggressive compared to if the malignancy had been identified at first admission. All patients died after a mean follow-up of 16.67 ± 11.7 months and the complication rate was 100%. ConclusionWhen a pathological fracture is misdiagnosed and managed as a simple bone fracture, outcomes are extremely poor. In these situations, remedial surgery is more extensive, with increased complication rates and there is poor life expectancy.

Incidence of Sudden Cardiac Death and Life-Threatening Arrhythmias in Clinically Manifest Cardiac Sarcoidosis With and Without Current Indications for an Implantable Cardioverter Defibrillator.

Background:Cardiac sarcoidosis (CS) predisposes to sudden cardiac death (SCD). Guidelines for implantable cardioverter defibrillators (ICDs) in CS have been issued by the Heart Rhythm Society in 2014 and the American College of Cardiology/American Heart Association/Heart Rhythm Society consortium in 2017. How well they discriminate high from low risk remains unknown.Methods:We analyzed the data of 398 patients with CS detected in Finland from 1988 through 2017. All had clinical cardiac manifestations. Histological diagnosis was myocardial in 193 patients (definite CS) and extracardiac in 205 (probable CS). Patients with and without Class I or IIa ICD indications at presentation were identified, and subsequent occurrences of SCD (fatal or aborted) and sustained ventricular tachycardia were recorded, as were ICD indications emerging first on follow-up.Results:Over a median of 4.8 years, 41 patients (10.3%) had fatal (n=8) or aborted (n=33) SCD, and 98 (24.6%) experienced SCD or sustained ventricular tachycardia as the first event. By the Heart Rhythm Society guideline, Class I or IIa ICD indications were present in 339 patients (85%) and absent in 59 (15%), of whom 264 (78%) and 30 (51%), respectively, received an ICD. Cumulative 5-year incidence of SCD was 10.7% (95% CI, 7.4%–15.4%) in patients with ICD indications versus 4.8% (95% CI, 1.2%–19.1%) in those without (χ2=1.834, P=0.176). The corresponding rates of SCD were 13.8% (95% CI, 9.1%–21.0%) versus 6.3% (95% CI, 0.7%–54.0%; χ2=0.814, P=0.367) in definite CS and 7.6% (95% CI, 3.8%–15.1%) versus 3.3% (95% CI, 0.5%–22.9%; χ2=0.680, P=0.410) in probable CS. In multivariable regression analysis, SCD was predicted by definite histological diagnosis (P=0.033) but not by Class I or IIa ICD indications (P=0.210). In patients without ICD indications at presentation, 5-year incidence of SCD, sustained ventricular tachycardia, and emerging Class I or IIa indications was 53% (95% CI, 40%–71%). By the American College of Cardiology/American Heart Association/Heart Rhythm Society guideline, all patients with complete data (n=245) had Class I or IIa indications for ICD implantation.Conclusions:Current ICD guidelines fail to distinguish a truly low-risk group of patients with clinically manifest CS, the 5-year risk of SCD approaching 5% despite absent ICD indications. Further research is needed on prognostic factors, including the role of diagnostic histology. Meanwhile, all patients with CS presenting with clinical cardiac manifestations should be considered for an ICD implantation.

Development and Evaluation of Prognostic Nomogram Model for Adult Ventricle Glioma Patients

To explore the prognostic factors of adult ventricle glioma (AVG) and to construct and evaluate a survival-related prognostic nomogram model, which could provide further reference for the clinical management of AVG patients. The patients covered in the study were selected from the Surveillance Epidemiology and End Results (SEER) database (1973-2016). They all had definite histological diagnosis of AVG. They were assigned randomly to the training cohort and the validation cohort by random number table at a 2/1 ratio. Survival analysis was performed by Kaplan-Meier analysis. Cox regression analysis was employed to determine the independent prognostic factors for overall survival (OS) and cancer-specific survival (CSS). Then, integrating the basic characteristics of patients, the survival-related nomogram predictive model for OS and CSS in the training cohort was constructed, respectively. After that, internal cross validation and external validation of the model were carried out with the training cohort and the validation cohort in succession. The authenticity and reliability of the nomogram model were evaluated by calculating the concordance index (C-index). Calibration plots were constructed to assess the agreement between the predicted values and the observed values in the training cohort and the validation cohort. A total of 369 AVG patients, including 218 males and 151 females, were included. The median age of the patients was 53. According to the WHO classification of gliomas, 66 (17.9%) patients had grade Ⅱ gliomas, 73 (19.8%) had grade Ⅲ gliomas, and 230 (62.3%) had grade Ⅳ gliomas. Regarding the extent of resection (EOR), 59 (16.0%) had gross total resection (GTR) and 145 (39.3%) had subtotal resection (STR) or partial resection (PR). Of all the patients, 167 (45.3%) received postoperative radiotherapy and 143 (38.8%) received postoperative chemotherapy. Patients were randomized into the training cohort ( n=246) and the validation cohort ( n=123), and there was no significant difference ( P>0.05) in the basic clinical characteristics between the training cohort and the validation cohort. In the training cohort, Cox regression analysis revealed that the independent prognostic factors for OS and CSS included age≥65, grades Ⅲ and Ⅳ according to the WHO classification of gliomas, and not receiving radiotherapy. Furthermore, 5 variables, including age, gender, WHO grades, surgery, and radiotherapy, were used to construct the nomogram model for predicting 6-month, 1-year, and 2-year OS and CSS. The results of internal cross validation in the training cohort showed that the C-indexes of OS and CSS were 0.758 and 0.765, respectively. The external validation results of the validation cohort showed that the C-indexes of OS and CSS were 0.733 and 0.719, respectively. Calibration plots for 6-month, 1-year, and 2-year OS in the training cohort showed relatively good agreement, while in the validation cohort the agreement was relatively low. The 6-month, 1-year, and 2-year CSS calibration plots had results similar to the calibration plots of OS. This nomogram predictive model of OS and CSS showed moderately reliable predictive performance, providing helpful reference information for clinicians to make quick and simple assessment of the survival probability of AVG patients.

P299 CONDUCTION DISORDERS AS THE FIRST HALLMARK OF ISOLATED CARDIAC SARCOIDOSIS IN A HIGHLY ACTIVE INDIVIDUAL: A CASE REPORT

Abstract A 45–year–old highly active Caucasian individual was admitted to the emergency department complaining of slightly reduced physical performances: he reported a lack of increase of heart rate beyond 80–100 bpm at fitness tracker monitoring during physical activity during the previous week. He used to train 3–4 times/week. He had no previous medical concerns and he didn’t take any medication. Basal electrocardiogram (ECG) showed 2:1 atrioventricular block (AVB) and left axis deviation, with the exception of his 2:1 AVB, the other features on the ECG are common training related changes. Transthoracic echocardiogram was normal. Treadmill exercise test revealed paroxysmal 2:1 AVB and Mobitz I AVB at peak effort, then first degree AVB and isolated and coupled right infundibular premature ventricular complexes (PVC) in the recovery phase: exercise related AV–conduction improvement suggested supra–nodal AVB. Cardiac magnetic resonance (CMR) imaging reported two areas of late gadolinium enhancement (LGE) with midwall/subepicardial distribution: the first one in the basal anterior septal wall extending to basal anterior wall and the second one involving the basal and medium segment of inferior septum and inferior wall. LGE quantification was 6.0 g/m2 (9.5%). Short tau inversion recovery (STIR) acquisitions were negative for oedema (Figure 1). Subsequent FDG–PET imaging confirmed high uptake in the basal anterior septal wall, the anterior wall and in the basal inferior septal area (Figure 2). No other organ involvement was detected. Considering the FDG–PET, LGE and AV–conduction abnormalities, the patient was clinically diagnosed with symptomatic isolated CS. However, a definitive histologic diagnosis was not possible as no myocardial biopsy was performed. High dose corticosteroid therapy was startedand after few days of treatment ECG monitoring revealed an imrovement of cardiac conduction. The treadmill test was repeated and showed conduction improvement during effort, however the test was suspended due to the occurrence of ventricular couples and ventricular bigeminy during effort. For arrhythmic risk assessment, electrophysiological study (EPS) was performed and no arrhythmias were induced. We decided to defer ICD implantation. However, a loop–recorder for continuous arrhythmias monitoring was implanted. At three months, a new CMR was performed and was identical to the previous one, with no significant LGE reduction or increase detected.

Management of diffuse large B-cell lymphoma with cardiac and extra-cardiac locations.

A 71-year-old man presented with 6 kg weight loss since 4 months and asthenia. He also had mild cough for a few weeks, sudden stabbing thoracic pain recurring at rest without radiation, and no dyspnea. The patient had a history of chronic weaned alcoholism, active smoking, hypertension on triple therapy, and professional exposure to paint. The last transthoracic echocardiography (TTE) performed 6 months before his admission showed an isolated septal hypertrophy at 13 mm without supplementary cardiac abnormalities. At admission, hemoglobin was 138 g/L, platelet and leukocyte counts were 369 × 109/L and 10.1 × 109/L, respectively, C-reactive protein was 51 mg/L, lactate dehydrogenase (LDH) was 8.57 μkat/L, and troponin I was 86.6 μg/L. Neither clinical nor electrocardiogram additional abnormalities were identified. TTE exhibited a significant necrotic intracardiac mass. Computed tomography (CT) highlighted an 80 × 80 mm infiltrating heart mass centered on the right atrioventricular septum with extension to the tricuspid ring (Figure 1, left image), a mediastino-hilar lymphadenopathy, a 15 mm right posterobasal pulmonary nodule, and a thin layer of right pleural effusion. A biopsy of the mediastinal lesion by endoscopic ultrasound revealed large B cells, strongly positive for CD20 antigen as well as CD19, CD5 (low intensity), CD10, CD38, CD79b, and FMC7 marker proteins with a Ki-67 of 70%. Although biopsy was not large, the pathological diagnosis suggested a diffuse large B-cell lymphoma. During hospitalization, a repeated CT showed increased necrotic areas in mediastinal mass, layer of right pericardial effusion, right posterobasal pulmonary nodule, bilateral pleural effusions with passive atelectasis precluding another biopsy, and hepatosplenomegaly. After occurrence of second-degree atrioventricular (AV) block, a pacemaker was implanted in the right ventricular apex. Overall, these clinical, radiological, and histological observations were consistent with diagnosis of diffuse large B-cell lymphoma (DLBCL). Due to the accelerated progression of disease, patient started a first chemotherapy cycle without definitive histological diagnosis including intravenous cyclophosphamide, vincristine, and prednisone without anthracycline. Following six cycles of R-CHOP (Rituximab, Cyclophosphamide, Hydroxy-doxorubicin, Vincristine and Prednisone) combination regimen for treatment of DLBCL with extranodal involvement, CT scan showed highly significant regression of cardiac tumors masses (Figure 1, right image artifacted due to the pacemaker) as well as pleural effusions, lymphadenopathy, pulmonary mass, and hepatosplenomegaly. A complete metabolic response was highlighted by positron emission tomography 8.6 months after the first day of CVP. To date, both primary and secondary cardiac lymphomas (CL) remain aggressive diseases, reported in less than 1% and 10% of patients with DLBCL, respectively. We acknowledged that additional sampling procedures were precluded by the concurrence of rapid progression of DLBCL in a few weeks associated with the onset of high-grade AV block. Therefore, it remained difficult to definitively establish the primary origin of CL versus secondary cardiac involvement of lymphoma, although timeline of clinical and radiological events and the histopathological data argue for a primary CL in the first instance. Despite an improvement of cardiac lymphoma diagnosis through multimodal imaging, biopsy techniques, and chemotherapy regimen including rituximab, the prognosis of CL patients remains poor. The authors declare they have no conflicts of interest. Written informed consent was obtained from the patient. The data that support the findings of this study are available from the corresponding author upon reasonable request.