Definitive Pathological Diagnosis Research Articles

Primary pulmonary myxoid sarcoma in the interlobar fissure of the left lung lobe: a case report

BackgroundPrimary pulmonary myxoid sarcoma (PPMS) is a rare, low-grade malignant tumor, constituting approximately 0.2% of all lung tumors. Despite its rarity, PPMS possesses distinctive histological features and molecular alterations, notably the presence of EWSR1-CREB1 gene fusion. However, its precise tissue origin remains elusive, posing challenges in clinical diagnosis.Case demonstrationA 20-year-old male patient underwent a routine physical examination 6 months prior, revealing a pulmonary mass. Following surgical excision, microscopic evaluation unveiled predominantly short spindle-shaped tumor cells organized in a fascicular, beam-like, or reticular pattern. The stromal matrix exhibited abundant mucin, accompanied by lymphocytic and plasma cell infiltration, with Russell bodies evident in focal areas. Immunophenotypic profiling revealed positive expression of vimentin and epithelial membrane antigen in tumor cells, whereas smooth muscle actin and S-100, among others, were negative. Ki-67 proliferation index was approximately 5%. Subsequent second-generation sequencing identified the characteristic EWSR1-CREB1 gene fusion. The definitive pathological diagnosis established PPMS. The patient underwent no adjuvant chemotherapy or radiotherapy and remained recurrence-free during a 30-month follow-up period.ConclusionsWe report a rare case of PPMS located within the left lung lobe interlobar fissure, featuring Russell body formation within the tumor stroma, a novel finding in PPMS. Furthermore, the histomorphological characteristics of this case highlight the diagnostic challenge it poses, as it may mimic inflammatory myofibroblastic tumor, extraskeletal myxoid chondrosarcoma, or hemangiopericytoma-like fibrous histiocytoma. Therefore, accurate diagnosis necessitates an integrated approach involving morphological, immunohistochemical, and molecular analyses.

"Brain Biopsy Revolution: Unveiling the Core Syringe Technique with Clinical Insights"

Obtaining a definitive pathological diagnosis from brain tissue sampling was challenging due to the small, non-representative sample. This study introduced a novel syringe technique for brain biopsy aimed at enhancing diagnostic accuracy by obtaining core tissue samples that better represent the targeted tissue. The ten patients with atypical brain lesions underwent the syringe biopsy. After meticulous preoperative planning with neuronavigation, a minimally invasive approach was used: a 3 cm skin incision and a 14 mm burr hole were created. A modified 3-cc syringe was used to create negative pressure and cannulate the brain tissue. The desired sample size (24 cm³) was obtained by controlling the syringe depth and withdrawal. Medical records were reviewed to assess sample analysis results and any complications RESULTS: The syringe technique successfully yielded adequate tissue samples in 9 out of 10 patients. In one case, the desired tissue could not be retrieved and required a microsurgical approach for removal. In all ten cases, a correct diagnosis was made without significant complications. The preliminary findings suggest that the syringe technique is both safe and effective for obtaining substantial volumes of brain tissue, facilitating accurate pathological evaluation in cases of complex neurological disorders.

The value of dual time-point fluorine-18 fluorodeoxyglucose PET/computed tomography imaging in predicting lymph node metastasis in non-small cell lung cancer patients.

The purpose of this study was to analyze the correlation between specified dual time-point fluorine-18 fluorodeoxyglucose (18F-FDG) PET/computed tomography (CT) imaging parameters and pathological characteristics in non-small cell lung cancer (NSCLC) patients. This study retrospectively analyzed 47 patients with NSCLC. All patients underwent dual time-point 18F-FDG PET/CT imaging. We obtained the metabolic parameters, standardized uptake value (SUV) maximum, SUVmean, delayed standardized uptake value (DSUV) maximum, DSUVmean, delay index standardized uptake value (DISUV) maximum, and DISUVmean, of the primary tumor. The tumor size was measured by CT. All lymph nodes had a definite pathological diagnosis. We next evaluated the status of the lymph node metastases (LNM) and the correlations between metabolic parameters and clinical characteristics. Receiver operating characteristic curves were drawn for the prediction of LNM. We found that the DSUVmax, DISUVmax, DSUVmean, and tumor size were significantly related to LNM (P = 0.036, 0.009, and 0.049, respectively). Multivariate analysis revealed that tumor size and DISUVmax were independent risk factors for LNM in lung cancer patients. According to the receiver operating characteristic curve analysis, the optimal cutoff values for DISUVmax and tumor size were 0.33 and 2.8 cm, respectively. When these two parameters were combined, the area under the curve for predicting LNM in NSCLC was 0.768, and the sensitivity was 95.7% for predicting LNM in lung cancer patients. We further allocated the patients to three groups: the high-risk group (tumor size ≥ 2.8 cm, DISUVmax ≥ 0.33), the moderate-risk group (tumor size ≥ 2.8 cm, DISUVmax < 0.33, or tumor size < 2.8 cm, DISUVmax ≥ 0.33), and the low-risk group (tumor size < 2.8 cm, DISUVmax < 0.33). The rates of LNM were 70, 50, and 0%, respectively. Tumor size and DISUVmax are risk factors for predicting LNM, and they are more useful in combination. Compared with standard PET/CT imaging, dual time-point PET/CT imaging has added value in predicting LNM in NSCLC patients.

Generating lymphoma ultrasound image description with transformer model

Lymphoma, the most prevalent hematologic tumor originating from the lymphatic hematopoietic system, can be accurately diagnosed using high-resolution ultrasound. Microscopic ultrasound performance enables clinicians to identify suspected tumors and subsequently obtain a definitive pathological diagnosis through puncture biopsy. However, the complex and diverse ultrasonographic manifestations of lymphoma pose challenges for accurate characterization by sonographers. To address these issues, this study proposes a Transformer-based model for generating descriptive ultrasound images of lymphoma, aiming to provide auxiliary guidance for ultrasound doctors during screening procedures. Specifically, deep stable learning is integrated into the model to eliminate feature dependencies by training sample weights. Additionally, a memory module is incorporated into the model decoder to enhance semantic information modeling in descriptions and utilize learned semantic tree branch structures for more detailed image depiction. Experimental results on an ultrasonic diagnosis dataset from Shanghai Ruijin Hospital demonstrate that our proposed model outperforms relevant methods in terms of prediction performance.

A case with multiple nodules and mucosal oedema of the trachea and both bronchi induced by IgG4-related disease

BackgroundIgG4-related disease is a systemic fibroinflammatory disease that is mainly seen in older men, and involves multiple organs, such as the pancreas and lungs. However, 75% of patients with IgG4-related lung disease are asymptomatic (if they are symptomatic, they mainly complain of nasal congestion, rhinorrhoea, chest pain, and cough) and are incidentally diagnosed through chest computed tomograph. Although, nodules in the airway and bronchial wall thickening are criteria for diagnosis, it is important that nodules have been reported in peripheral airways in several cases and rarely in the central airway.Case presentationA 74-year-old woman previously diagnosed with Mikulicz’s disease presented with swelling of the eyelid margin on both sides and visual disturbances. Computed tomography revealed extensive multiple nodules and mucosal oedema of the trachea and both bronchi. On flexible bronchoscopy under local anaesthesia, extensive lesions were observed from the middle of the trachea to the carina, extending into both segmental bronchi. The nodules were continuous with the normal respiratory tract mucosa, and the surfaces were smooth with minimal neovascularisation. Due to the solid nature of the lesion, obtaining an adequate amount of specimen was challenging. Therefore, we used a 1.9 mm cryoprobe under intubation, resulting in minimal bleeding. Subsequently, the patient was diagnosed with IgG4-related lung disease.ConclusionsThe present case is very rare because of the presence of multiple nodules, severe mucosal edema of the central airway and the absence of mediastinal lymphadenopathy, ground glass nodules, and lung masses. Therefore, it is important to consider differential diagnoses. Thus, we emphasise the importance of endobronchial cryobiopsy for obtaining an adequate number of tissue specimens in such cases to establish a definitive pathological diagnosis.

Prognostic value of native T1 and extracellular volume in patients with immunoglubin light-chain amyloidosis

BackgroundCardiac involvement in patients with immunoglubin light-chain amyloidosis (AL) is a major determinant of treatment choice and prognosis, and early identification of high-risk patients can initiate intensive treatment strategies to achieve better survival. This study aimed to investigate the prognostic value of native T1 and ECV in patients with AL-cardiac amyloidosis (CA).MethodsA total of 38 patients (mean age 59 ± 11 years) with AL diagnosed histopathologically from July 2017 to October 2021 were collected consecutively. All patients were performed 3.0-T cardiac magnetic resonance (CMR) including cine, T1 mapping, and late gadolinium enhancement (LGE). Pre- and post-contrast T1 mapping images were transferred to a dedicated research software package (CVI42 v5.11.3) to create parametric T1 and ECV values. In addition, clinical and laboratory data of all patients were collected, and patients or their family members were regularly followed up by telephone every 3 months. The starting point of follow-up was the time of definitive pathological diagnosis, and the main endpoint was all-cause death. Kaplan-Meier analysis and Cox proportional risk model were used to evaluate the association between native T1 and ECV and death in patients with CA.ResultsAfter a median follow-up of 27 (16, 37) months, 12 patients with CA died. Kaplan-Meier analysis showed that elevated native T1 and ECV were closely associated with poor prognosis in patients with CA. The survival rate of patients with ECV > 44% and native T1 > 1389ms were significantly lower than that of patients with ECV ≤ 44% and native T1 ≤ 1389ms (Log-rank P < 0.001), and was not associated with the presence of LGE. After adjusting for clinical risk factors and CMR measurements in a stepwise multivariate Cox regression model, ECV [risk ratio (HR):1.37, 95%CI: 1.09–1.73, P = 0.008] and native T1 (HR:1.01, 95%CI: 1.00-1.02, P = 0.037) remained independent predictors of all-cause mortality in patients with CA.ConclusionsBoth native T1 and ECV were independently prognostic for mortality in patients with CA, and can be used as important indicators for clinical prognosis assessment of AL.

Diagnostic value of transthoracic needle biopsy in lung tumors.

Thoracic ultrasonography is widely used in imaging peripheral lesions and invasive interventional procedures. The aim of this study was to assess the diagnostic value of thoracic ultrasonography-guided transthoracic needle aspiration biopsy and the factors affecting the diagnosis of peripheral tumoral lung lesions. The lesion size, biopsy needle type, number of blocks, complications, and pathology results were compared in 83 patients between January 2015 and July 2018. The cases with pathological non-diagnosis and definite pathological diagnosis were determined. For the assessment of the factors affecting diagnosis, the size of the lesions and the biopsy needle type were evaluated. Biopsy preparations containing non-diagnostic atypical cells were referred to a cytopathologist. The effect of the cytopathological examination on the diagnosis was also evaluated. Pathological diagnosis was made in 66.3% of the cases; cell type could not be determined in 22.9% of the cases, and they were referred to a cytopathologist. After the cytopathologist's examination, the diagnosis rate increased to 80.7%. Diagnosis rates were higher when using tru-cut than Chiba and higher in cases with tumor size >2 cm than smaller. Thoracic ultrasonography-guided transthoracic needle aspiration biopsy is a preferred approach to the diagnosis of peripheral tumoral lung lesions, given its high diagnostic rate, in addition to being cheap, highly suitable for bedside use, and safe, and the lack of radiation exposure.

The efficacy and safety of radial endobronchial ultrasound-guided transbronchial lung cryobiopsy in the diagnosis of lung disease.

Transbronchial lung cryobiopsy (TBLC) is a novel technology in which a cryoprobe is used to obtain large tissue samples from the lungs of patients with interstitial lung diseases (ILDs) and peripheral pulmonary lesions (PPLs). We aimed to determine the efficacy and safety of TBLC in the diagnosis of peripheral lung diseases in the Endoscopy Center of Shanghai Pulmonary Hospital. Further, the application value of radial endobronchial ultrasound (R-EBUS) used to determine the optimal area for cryobiopsy was evaluated in this study. In this retrospective study, the data of patients with unclarified ILDs or PPLs who underwent TBLC guided by R-EBUS between April 2020 and December 2021 at Shanghai Pulmonary Hospital in China were analyzed. A total of 137 patients [72 men, 65 women; median age, 52 years (range, 24-76 years)] were enrolled in the study. Out of the 137 patients included in the study, 123 (89.8%) were diagnosed after multidisciplinary discussions (MDDs), including 105 (85.4%) with ILD, 10 (8.1%) with tuberculosis, and 8 (6.5%) with a malignant tumor. Sixty-five (47.4%) patients had a definitive pathologic diagnosis through TBLC, including 54 (83.1%) with ILD, 5 (7.7%) with tuberculosis and 6 (9.2%) with malignant tumors. The overall pathological diagnosis rate was 47.4%. In addition to clarifying the blood supply situation of the candidate target, R-EBUS detected lesions in 44 (32.1%) patients. Mild and moderate bleeding occurred in 75.2% and 24.8% of patients, respectively. No cases of severe bleeding were observed. Pneumothorax occurred in 6 (4.4%) patients, of which 2 recovered without additional treatment, and 4 (66.7%) needed closed thoracic drainage. Hydropneumothorax and mediastinal emphysema occurred in one patient each. No patients died due to TBLC. R-EBUS-guided TBLC is safe and effective for the diagnosis of lung diseases, including ILDs and other PPLs. R-EBUS can guide cryobiopsy and avoid the potential risk of severe bleeding as well as radiation exposure. The pathological diagnosis rate of ILDs is relatively low, and MDD plays an important role in the diagnosis of ILDs.

Clinical and molecular biological characterization of patients with accelerated chronic lymphocytic leukemia

Objective: To investigate the clinical and molecular biological characteristics of patients with accelerated chronic lymphocytic leukemia (aCLL) . Methods: From January 2020 to October 2022, the data of 13 patients diagnosed with aCLL at The First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed to explore the clinical and molecular biological characteristics of aCLL. Results: The median age of the patients was 54 (35-72) years. Prior to aCLL, five patients received no treatment for CLL/small lymphocytic lymphoma (SLL), while the other patients received treatment, predominantly with BTK inhibitors. The patients were diagnosed with aCLL through pathological confirmation upon disease progression. Six patients exhibited bulky disease (lesions with a maximum diameter ≥5 cm). Positron emission tomography (PET) -computed tomography (CT) images revealed metabolic heterogeneity, both between and within lesions, and the median maximum standardized uptake value (SUVmax) of the lesion with the most elevated metabolic activity was 6.96 (2.51-11.90). Patients with unmutated IGHV CLL accounted for 76.9% (10/13), and the most frequent genetic and molecular aberrations included +12 [3/7 (42.9% ) ], ATM mutation [6/12 (50% ) ], and NOTCH1 mutation [6/12 (50% ) ]. Twelve patients received subsequent treatment. The overall response rate was 91.7%, and the complete response rate was 58.3%. Five patients experienced disease progression, among which two patients developed Richter transformation. Patients with aCLL with KRAS mutation had worse progression-free survival (7.0 month vs 26.3 months, P=0.015) . Conclusion: Patients with aCLL exhibited a clinically aggressive course, often accompanied by unfavorable prognostic factors, including unmutated IGHV, +12, ATM mutation, and NOTCH1 mutation. Patients with CLL/SLL with clinical suspicion of disease progression, especially those with bulky disease and PET-CT SUVmax ≥5, should undergo biopsy at the site of highest metabolic uptake to establish a definitive pathological diagnosis.

Leptospirosis-associated meningitis in a patient with sjögren’s syndrome: a case report

BackgroundLeptospirosis is a zoonotic disease that afflicts both humans and animals. It progresses from flu-like symptoms to more severe hepatic and renal failure, and may also lead to aseptic meningitis. Individuals with autoimmune diseases (ADs) are potentially more susceptible to Leptospirosis. Thus far, limited data has documented the association between Leptospirosis and autoimmune disorders.Case presentationThe patient had a definitive pathological diagnosis of Sjögren’s syndrome (SS). Due to recurrent headaches, the patient sought consultation with a neurologist. Lumbar puncture revealed elevated white blood cells and protein levels in the cerebrospinal fluid, along with decreased glucose. Tuberculous meningitis was suspected. Radiographic imaging exhibited meningeal enhancement, ventricular enlargement, and hydrocephalus. The patient commenced treatment with anti-tuberculosis therapy and corticosteroids. Subsequently, high-throughput sequencing (HTS) of cerebrospinal fluid identified the presence of Leptospira interrogans. The patient was ultimately diagnosed with Leptospiral meningitis, and underwent antimicrobial and immunosuppressive therapy, resulting in stabilization of the condition and gradual symptom recovery.ConclusionsThe case highlights the challenges in diagnosing and managing leptospirosis-related meningitis in the presence of ADs and emphasizes the importance of utilizing HTS for accurate pathogen detection. The potential correlation between leptospirosis and SS warrants further investigation, as does the need for multidisciplinary involvement in treatment strategies for such complex cases.

CIC-DUX4 Sarcoma Involving the Skull Base: A Rare Presentation and Review of the Literature.

Background CIC-DUX4 sarcoma is a rare, aggressive tumor that is difficult to diagnose. Although it is closely related to Ewing's sarcoma, each is a distinct pathologic entity and both have been previously reported in the skin, lymph nodes, and viscera. We report the first description of CIC-DUX4 involving the posterior cranial fossa and review the distinctive symptomatology, morphology, immunoprofile, and genetic signature that differentiate this rare tumor. Case Report A 32-year-old man presented with an enlarging right lateral neck mass, progressive hoarseness, and orofacial pain. Biopsy revealed a high-grade undifferentiated malignant neoplasm. Imaging demonstrated an 8-cm mass in the right neck extending to the skull base and abutting the carotid sheath, in addition to pulmonary nodules and pelvic lymphadenopathy. Despite initial response to chemotherapy, he experienced disease progression and underwent surgical resection, radical neck dissection, and brachytherapy. Definitive pathologic diagnosis was achieved with next-generation sequencing. Within weeks of treatment, he developed symptoms reflecting progression of disease involving the neck, posterior cranial fossa, and lung. Adjuvant chemotherapy was planned, but the patient succumbed to his disease prior to initiation of further therapy. Conclusion CIC-DUX4 sarcomas are uncommon and can progress rapidly. Diagnosis requires either fluorescence in situ hybridization or next-generation sequencing. Due to its rarity, there is no standard-of-care treatment for this tumor and further investigations are needed to understand disease behavior and develop targeted therapeutic modalities.

A machine learning–based multidimensional model integrating clinical, radiomics, and cell-free DNA methylation biomarkers for the classification of pulmonary nodules.

3070 Background: Patients with pulmonary nodules undergoing excessive invasive procedures is a pressing clinical problem. We sought to develop a noninvasive, machine learning-based multidimensional tool combining clinical, radiomic, and cell-free DNA (cfDNA) methylation biomarkers for improving accuracy of pulmonary nodules classification. Methods: This prospectively collected and retrospective blinded evaluation trial enrolled a total of 1,276 subjects at 24 hospitals in China. All patients with a 5-30 mm pulmonary nodule at high risk of lung cancer had undergone surgical resection with definitive pathological diagnosis. Clinical information, preoperative peripheral blood, and chest CT scans were collected. The regions of interest (ROIs) containing target nodule on the CT images were automatically segmented by a deep-learning based model. 2,153 radiomics features were extracted from ROIs using PyRadiomics. Based on clinical and radiomics features, four classification models were constructed using LightGBM, Lasso, Random Forest, and Logistic Regression algorithms. Subsequently, the predicted probabilities of the above four models were averaged to obtain a final score of the combined clinical and radiomic biomarkers model (CRBM) in a training set (n=797). Then we integrated CRBM model with our previously established cfDNA methylation model (PulmoSeek; DOI: 10.1172/JCI145973) to create a new combined model using logistic regression (n=201), PulmoSeek Plus V2.0, and verified it independently (n =278). The ROC curves were compared to evaluate the diagnostic performance among the CRBM, PulmoSeek, and PulmoSeek Plus V2.0 model, pathologic diagnosis as the gold standard. Results: The CRBM model achieved AUCs of 0.81(95%CI 0.73-0.90) and 0.80 (0.74-0.86) in the two validation sets (n1=201, n2=278), respectively. In the training set (n=201) and validation set (n=278), the PulmoSeek Plus V2.0 obtained AUCs of 0.93 (0.90-0.97) and 0.91 (0.88-0.95), and accuracies of 0.89 (0.84-0.93) and 0.84 (0.79-0.88), respectively. In the combined set (n=479), when compared with CRBM and PulmoSeek, PulmoSeek Plus V2.0 yielded improved AUCs of 11% and 6%, and accuracies of 6% and 3%, respectively. PulmoSeek Plus V2.0 model for rule-out at the fixed specificity of 50%, had an overall sensitivity of 0.98 (0.96-0.99), PPV of 0.86 (0.82-0.89), and NPV of 0.998 (0.988-1.000, at 5% prevalence). It maintains good diagnostic performance in early-stage lung cancer (0-I, n=328) and 5-10 mm nodules (n=92), with sensitivities of 0.98 (0.96-0.99) and 0.98 (0.92-0.99), respectively. Conclusions: PulmoSeek Plus V2.0, as a novel machine learning-based multidimensional model, improves the accuracy of pulmonary nodules classification, and potentially reduces the unnecessary invasive procedures among individuals with benign nodules. Clinical trial information: NCT03181490 , NCT03651986 .

Inflammatory Lesions of the Breast.

Inflammatory lesions of the breast are rare but not infrequently pose problems both clinically and morphologically, particularly on needle core biopsies. These lesions range from acute inflammatory conditions to chronic lymphoplasmacytic and lymphohistiocytic to granulomatous inflammatory diseases. To provide a comprehensive overview of inflammatory lesions of the breast, with etiopathogenesis and clinical, radiologic, and pathologic features as well as differential diagnostic considerations, clinical management, and prognosis. The existing literature in the English language, including original research articles and review articles describing inflammatory lesions of the breast. Inflammatory lesions of the breast are characterized by a wide variety of clinical, radiologic, and morphologic features. The histopathologic differential diagnosis often includes a neoplastic process requiring ancillary studies and correlation with clinical and radiologic findings. Although most specimens display nonspecific findings precluding a definitive pathologic diagnosis, pathologists have a unique opportunity to play a crucial role in identifying key histologic features suggestive of certain entities, such as cystic neutrophilic granulomatous mastitis, immunoglobulin (Ig) G4 mastitis, or squamous metaplasia of lactiferous ducts, in the right clinical and radiologic context, and thereby guiding optimal and timely clinical management. The information presented herein will be helpful to practicing anatomic pathologists and pathology trainees in becoming more familiar with specific morphologic features and overcoming differential diagnostic challenges related to pathology reporting of inflammatory lesions of the breast.

Comments on and Illustrations of the EFSUMB CEUS Guidelines: Transabdominal and Endoscopic Ultrasound Features of Intrapancreatic Metastases and the Role of Multiparametric Imaging and EUS-Guided Sampling in Rare Pancreatic Tumors.

A definite pathologic diagnosis of intrapancreatic metastasis is crucial for the management decision, i.e., curative or palliative surgery versus chemotherapy or conservative/palliative therapy. This review focuses on the appearance of intrapancreatic metastases on native and contrast-enhanced transabdominal ultrasound and endoscopic ultrasound. Differences and similarities in relation to the primary tumor, and the differential diagnosis from pancreatic carcinoma and neuroendocrine neoplasms are described. The frequency of intrapancreatic metastases in autopsy studies and surgical resection studies will be discussed. Further emphasis is placed on endoscopic ultrasound-guided sampling to confirm the diagnosis.

Effectiveness of PET/CT and VATS for detecting and treating internal mammary lymph node metastasis: a case series.

We occasionally observed internal mammary lymph node metastases of breast cancer in a clinical setting. However, unlike a standard treatment in axillary metastasis, surgical resection for internal mammary lymph node metastasis is not prevalent because of unclear safety and benefits. Thus, we aimed to evaluate the diagnostic ability and clinical outcomes of positron emission tomography/computed tomography and video-assisted thoracoscopic surgery. We retrospectively investigated 34 patients with breast cancer with abnormal 18F-fluorodeoxyglucose uptake in internal mammary lymph nodes, at a single centre, between January 2015 and June 2022 and identified 11 female patients (mean age±SD, 51.5±12.9years) who underwent video-assisted thoracoscopic surgery resection. Positron emission tomography/computed tomography was used to determine the clinical stage. We reviewed the surgical pathology of eleven and two patients who underwent direct-view internal mammary lymph node resection to calculate the positive predictive value of positron emission tomography/computed tomography. Ipsilateral fluorodeoxyglucose accumulation was observed, with an average maximum standardized uptake value of 8.9 (range, 3.1-24.0). No perioperative complications occurred, and all patients who underwent video-assisted thoracoscopic surgery alone were discharged from the hospital on post-operative day 2 or 3. The estimated positive predictive value was 80%. All patients were alive, and seven of nine patients with metastasis were relapse-free, at a mean follow-up period of 17.9months (range, 1-51). However, two patients had recurrence at 16 and 14months after surgery for internal mammary lymph node relapse. Radiotherapy is the standard treatment for suspected internal mammary lymph node metastasis detected using positron emission tomography/computed tomography; however, we could safely perform minimally invasive video-assisted thoracoscopic surgery resection, leading to a definite pathological diagnosis.

AMH producing purely cystic virilizing adult granulosa cell tumor in 17 years old girl: a case report and review of literatures

BackgroundAndrogen-producing granulosa cell tumor in adolescent girl is rare condition and clinical characteristics are not fully elucidated.Case presentationSeventeen years old girl complained of secondary amenorrhea was referred to our out-patient consultation. Markedly elevated serum testosterone, LH, and AMH levels were noted. Mild hirsutism and clitoromegaly were presented. Transabdominal ultrasonography and MRI revealed cystic mass occupied pelvic cavity probably originated from left ovary. Right ovary showed polycystic appearance. Laparoscopic left ovarian cystectomy was performed. After the surgery, her menstruation resumed along with normalized hormonal parameters, and clinical hyperandrogenism were improved. Since the scarcity of cellular lining of inner cyst wall, definitive pathological diagnosis was difficult. After the consultation with gynecological pathologist, the tumor was diagnosed as sex cord stromal tumor, highly suspicious for adult granulosa cell tumor. Residual left salpingo-oophorectomy was performed by additional laparoscopic surgery. Her serum testosterone and AMH levels were remained low with regular menstrual cycles and no evidence of recurrence.ConclusionsAndrogen-producing cystic granulosa cell tumor is rare gynecological disorders, which need both gynecologic oncological and endocrinological approach. Its clinical manifestations may bring some clues to the pathogenesis of ovulatory dysfunctions, such as polycystic ovary syndrome.

Evaluation of Radiographic Features and Clinical Signs of Maxillofacial Malignancies in Patients Referred to Mashhad Dental School During 2003-2017

Background: The aim of this study was to evaluate the radiographic and clinical features of malignant oral and maxillofacial lesions in patients referred to the Radiology Department of Mashhad Dental School from 2003 to 2017. Methods: A total of 45 radiographs of patients who had been referred to the Radiology Department of Mashhad Dental School from 2003 to 2017 were selected from the radiology archive. The patients presenting with malignant lesions in jaws and a definite pathologic diagnosis were selected as the study population. The radiographic features of lesions were investigated using intraoral radiographies, panoramic, and cone-beam computed tomography (CBCT) or computed tomography (CT) views. Then, 18 patients whose information was available were evaluated. Fisher’s exact test was used to compare the characteristics of lesions. Results: The age of the patients ranged from 5 to 84 years, with a mean of 49.18 years. Of the 45 lesions identified, squamous cell carcinoma (SCC) was the most prevalent malignancy, followed by lymphoma and mucoepidermoid carcinoma. Most malignant lesions were seen in the posterior region of the jaws, and lesions were generally more prevalent in the mandible. Additionally, 77.8% of the observed malignancies had an ill-defined border, and 86.6% of them were radiolucent. In the clinical view, swelling was the most common symptom, and the duration of the disease in the majority of the lesions was less than 3 months. Conclusions: Paying attention to the course of the lesion, its internal structure and borders in the radiographic view can lead to a more accurate differentiation of malignant lesions from benign ones and timely referral of the patient.

Comparison of long-term outcomes of stereotactic body radiotherapy (SBRT) via Helical tomotherapy for early-stage lung cancer with or without pathological proof

BackgroundStereotactic body radio therapy (SBRT) has emerged as a standard treatment option for nonsurgical candidates with early-stage non-small cell lung cancer (NSCLC). Pathological proof is sometimes difficult to obtain in patients with solitary pulmonary nodules (SPNs). We aimed to compare the clinical outcomes of stereotactic body radiotherapy via helical tomotherapy (HT-SBRT) for early-stage lung cancer patients with or without a pathological diagnosis.MethodsBetween June 2011 and December 2016, we treated 119 lung cancer patients with HT-SBRT, including 55 with a clinical diagnosis and 64 with a pathological diagnosis. Survival outcomes, including local control (LC), progression-free survival (PFS), cancer-specific survival (CSS), and overall survival (OS), were compared between two cohorts with and without a pathological diagnosis.ResultsThe median follow-up for the whole group was 69 months. Patients with a clinical diagnosis were significantly older (p = 0.002). No significant differences were observed between the clinical and pathological diagnosis cohorts in terms of the long-term outcome, with 5-year LC, PFS, CSS, and OS of 87% versus 83% (p = 0.58), 48% versus 45% (p = 0.82), 87% versus 84% (p = 0.65), and 60% versus 63% (p = 0.79), respectively. Recurrence patterns and toxicity were also similar.ConclusionsEmpiric SBRT appears to be a safe and effective treatment option in a multidisciplinary setting when patients with SPNs highly suggestive of malignancy are unable/refuse to obtain a definitive pathological diagnosis.

Plasma nanoDSF Denaturation Profile at Baseline Is Predictive of Glioblastoma EGFR Status.

Glioblastoma (GBM) is the most frequent and aggressive primary brain tumor in adults. Recently, we demonstrated that plasma denaturation profiles of glioblastoma patients obtained using Differential Scanning Fluorimetry can be automatically distinguished from healthy controls with the help of Artificial Intelligence (AI). Here, we used a set of machine-learning algorithms to automatically classify plasma denaturation profiles of glioblastoma patients according to their EGFR status. We found that Adaboost AI is able to discriminate EGFR alterations in GBM with an 81.5% accuracy. Our study shows that the use of these plasma denaturation profiles could answer the unmet neuro-oncology need for diagnostic predictive biomarker in combination with brain MRI and clinical data, in order to allow for a rapid orientation of patients for a definitive pathological diagnosis and then treatment. We complete this study by showing that discriminating another mutation, MGMT, seems harder, and that post-surgery monitoring using our approach is not conclusive in the 48 h that follow the surgery.

Synovial biopsy for establishing a definite diagnosis in undifferentiated chronic knee monoarthritis

BackgroundUndifferentiated arthritis is a condition in which the problem cannot be classified into any definite diagnosis category. Various methods have been suggested to clarify the definite diagnosis in this class. The synovial biopsy is suggested as the last diagnostic approach to determine the precise histopathological diagnosis. In this study, we aimed to evaluate the efficacy of synovial biopsy for establishing a definite diagnosis in patients with undifferentiated chronic knee monoarthritis.MethodsThe present retrospective case series was conducted in 2005 in the rheumatology research center of Shariati hospital and the 501 hospital in Tehran, Iran. The study included the synovial biopsy of patients with chronic knee monoarthritis who did not have a definite diagnosis after all the diagnostic steps before the synovial biopsy. Pathology slides of the patients’ synovial biopsy were reevaluated with a senior expert pathologist.ResultsEighty patients with a mean age of 37.6 ± 17.32 years (range: 6–68) were included, of whom 50% were female. The gap time between the onset of knee monoarthritis and the decision-making for synovial biopsy was 14.34 ± 19.61 months. Histopathologic evaluations revealed non-specific synovitis in 65% of the patients and a definite diagnosis in 35%. The most common definite diagnosis was rheumatoid arthritis (9%), followed by septic arthritis (5%). The most common pathologic findings were endothelial proliferation (89%) and synovial proliferation (88%), and the most common infiltrating cell was lymphocyte (54%). Patients with non-specific synovitis were more likely to have neovascularization, cellular infiltration (p-value < 0.001), synovial proliferation, endothelial proliferation (p-value = 0.001), pannus formation (p-value = 0.009), and fibrosis (p-value = 0.022) compared to the patients with a definite pathologic diagnosis. However, age, gender, and the gap time between disease symptoms to synovial biopsy were not significantly different between the different groups of diagnosis (p-value > 0.05).ConclusionNon-specific synovitis remains the most common histopathologic finding, highlighting the importance of physician expert opinion for most of the patients with undifferentiated chronic knee monoarthritis. Studies with larger samples and immunohistochemistry analyses are needed to clarify this uncategorized entity further.