Final Histopathological Diagnosis Research Articles

The accuracy of fine needle aspiration cytology and ultrasonography in assessing thyroid nodules in correlation with histopathology: a retrospective study

Background: Accurately diagnosing thyroid nodules is vital for preventing unnecessary surgeries and providing prompt therapy. Although fine needle aspiration cytology (FNAC) and ultrasonography (US) are widely used diagnostic methods, their reliability is questioned. This study investigates the effectiveness of US and FNAC in thyroid nodule diagnosis and differentiates benign from malignant nodules in relation to final histopathological diagnosis. Method: A retrospective study including 307 adult patients with thyroid diseases who underwent neck US and FNAC before surgery was conducted between April 2019 and May 2023. The diagnostic efficacy of US, FNAC, and their combination usage was compared to histopathological results. Result: Histopathological findings revealed that 187(61%) cases were benign, while 120 (39%) were malignant. The US features of “taller-than-wider” forms and hypoechoic appearance had the highest diagnostic accuracy in characterizing malignant thyroid nodules, with 83% and 73% accuracy, respectively. The combination of US parameters demonstrated high sensitivity, specificity, positive predictive value, and negative predictive value (NPV) of 88.33%, 63.10%, 60.6%, and 89.4%, with a statistically significant area under the ROC curve (AUC: 0.828, P<0.001) than individual parameters. FNAC’s sensitivity, specificity, PPV NPV, and accuracy in detecting malignant lesions were 50%, 95%, 86%, 75%, and 77%, respectively, with acceptable discrimination and statistical significance (AUC: 0.723, P<0.0001). The combination of US parameters and FNAC significantly improved the AUC value (AUC: 0.878, P<0.0001), sensitivity (83.33%), and specificity (79.14%). Univariate analysis showed that hypoechoic appearance, heterogenicity, large mass size (>4 cm), “taller-than-wider,” infiltrative margins, and microcalcifications were risk factors for malignancy in thyroid nodules and were statistically significant (all P values <0.05). Conclusion: Combining US characteristics with FNAC results can afford the maximum analytical accuracy in distinguishing benign from malignant thyroid nodules. This strategy is practical due to its simplicity, minimal invasiveness, and cost-effectiveness, enabling robust management regimens and avoiding additional surgical procedures.

Exploring Immunohistochemical Profiling in High-Grade Endometrial Stromal Sarcoma - A Case Study

Abstract Introduction/Objective High grade endometrial stromal sarcoma (HGESS) is a rare and aggressive tumor of endometrial stromal origin comprising about 0.2% of all uterine malignancies. It is often misdiagnosed preoperatively as uterine leiomyoma, leiomyosarcoma or endometrial carcinoma due to lack of well defined clinical and radiological features. We present an unusual case of HGESS with fibroid uterus and abnormal vaginal bleeding. Methods/Case Report A 73-year-old female with a past medical history of uterine fibroids presented with abnormal vaginal bleeding for 6 months. Her MRI uterus revealed enlarged uterus measuring 6.8 X 9.9 X 9.3 cm, multiple fibroids, and endometrial thickness of 4 mm. Hysteroscopic dilation and curettage revealed endometrial polyp and submucosal fibroid. Histopathology of submucosal fibroid revealed loosely cohesive tumor cells with high nuclear/cytoplasmic ratio, scant cytoplasm, and large prominent nucleoli, arranged in solid sheets with myxoid stroma. No glandular formation was identified. Tumor cell necrosis, bizarre tumor cells, and markedly increased mitotic activity, including atypical mitotic figures were present. Immunohistochemistry (IHC) revealed tumor cells diffusely positive for smooth muscle actin, CD10, p53, negative for AE1/AE3, CK7, cam5.2, EMA, ER, PR, desmin, and caldesmon. Ki-67 labels close to 50% of the tumor cells. Combined morphologic and IHC features favored the diagnosis of high-grade sarcoma, including leiomyosarcoma and HGESS. However, the possibility of carcinosarcoma (CS) could not be ruled out. Patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. Final histopathological diagnosis revealed HGESS, pT1b. Lack of carcinomatous component and negative IHC staining for CK7, CAM 5.2, AE1/AE3 ruled out CS. IHC showed tumor cells diffusely positive for CD10, actin, desmin and CD 56, focally positive for caldesmon, cyclin D1 and CD 117 and negative for DOG 1, further supporting the diagnosis for HGESS over leiomyosarcoma. Results (if a Case Study enter NA) NA Conclusion Definitive diagnosis of HGESS is achieved through histology and IHC. An appropriate panel of IHC markers is essential to differentiate between endometrial stromal tumors from leiomyosarcoma and CS. Accurate diagnose of this rare clinical entity is critical especially in its initial stages owing to its poor prognosis and aggressive nature.

Correlative evaluation of findings between ultrasonography, fine needle aspiration cytology and histopathology in cases of goitre

Background: Thyroid imaging reporting and data system (TIRADS) criteria is followed in ultrasonography (USG), based on the risk of malignancy depending on the presence of suspicious ultrasound features. Patients in the high-risk category of TIRADS undergo fine needle aspiration cytology (FNAC), with the Bethesda classification used to determine the risk of malignancy. There is dearth of data comparing sonographic classification of thyroid nodule and its cytological association with respect to final histopathological diagnosis in India. Methods: Prospective observational study on correlation of USG, FNAC and HPE of thyroid swellings conducted in department of otolaryngology at Jaipur national university institute for medical science and research centre, Jaipur, Rajasthan from June 2022 to April 2024 on 50 patients with palpable thyroid lump. Results: In the present study, USG has a sensitivity of 63.63%, specificity of 97.44%, a positive predictive value (PPV) of 87.5%, a negative predictive value (NPV) of 90.4% and an overall accuracy of 84.00%. FNAC shows a sensitivity of 72.7%, specificity of 89.7%, PPV of 66.7%, NPV of 92%, and an overall accuracy of 86%. Conclusions: Benign lesions on both FNAC and USG were almost in concurrence with HPE in our study. The results of FNAC for diagnosing malignancy in our study were almost at par with the results of HPE and outweighed the results of USG. Surgical management should be based on FNAC finding even if USG shows benign features. It should be essential part of armamentarium of evaluation of thyroid swelling. This combined approach provides a robust framework and enhances the accuracy for distinguishing between benign and malignant thyroid lesions, ultimately contributing to improved patient care and outcomes. However, the histopathological examination will remain the gold standard.

Diagnostic Utility of a 90-Gene Expression Assay (Canhelp-Origin) for Patients with Metastatic Cancer with an Unclear or Unknown Diagnosis.

Metastatic cancers with unclear or unknown origins pose significant challenges in diagnosis and management, frequently leading to suboptimal outcomes. Studies have demonstrated that a 90-gene expression assay is effective in predicting the primary origin and guiding the site-specific therapy to improve prognosis. This study aimed to evaluate the clinical effectiveness of a 90-gene expression assay in patients with unclear or unknown diagnoses. The study encompassed patients for whom a 90-gene expression assay was requested as part of standard care. Data on patient demographics, tumor characteristics, and clinical history were collected. The assay's performance was evaluated by comparing its predicted tumor type with the final histopathological diagnosis. Among 303 cases analyzed, a 90-gene expression assay successfully identified a molecular-based tumor type for 295 (97.4%) patients. Comparison with histopathological diagnosis revealed an overall agreement of 88.5% (170/192). In patients with a single suspected primary site (n = 140), the assay confirmed the suspected diagnosis in 90.7% of cases. For those with a differential diagnosis (n = 52), the assay narrowed down the possibilities in 82.7% of cases. Moreover, in cases where the histopathology report indicated cancer of unknown primary (n = 103), the assay offered a molecular tumor type prediction with potential clinical significance. This study demonstrates the significant impact of a 90-gene expression assay on diagnosis and potential treatment selection for difficult-to-diagnose patients, highlighting its clinical value as a standardized molecular approach to streamline further diagnostic testing for patients with metastatic cancer of unclear or unknown origin. Further prospective study is required to assess whether employing molecular diagnostic classifiers enhances clinical outcomes in these patients.

Benign to malignant: A unique case of squamous cell carcinoma masquerading as papilloma

The clinical appearance of eyelid tumors many times may not concur with the final histopathological diagnosis. A 61-year-old female presented with a hyperpigmented mass in the right upper eyelid of 2-month duration. Clinically, it appeared to be squamous papilloma, a benign lesion. She underwent complete surgical excision of the mass. Histopathologically, the lesion was found to be squamous cell carcinoma, a malignant lesion. There was no recurrence of the mass until the last follow-up. This case report highlights the role of histopathology in aiding the diagnosis of eyelid swellings.

Diagnosing and management of thyroid nodules and goiter - current perspectives.

Due to the frequent diagnosis of benign thyroid nodules, it is necessary to deviate from the traditional paradigm based on frequent surgical treatment. This article highlights the evolution of diagnosis and treatment in recent years, beginning from standardization of ultrasound assessment of nodules and cytology results to minimally invasive techniques to reduce the size of symptomatic thyroid nodules. These achievements reduce the number of surgeries, enable more individualized care for patients with benign thyroid disease, reduce long-term complications, and promote cost-effectiveness within healthcare systems. Furthermore, although the use of minimally invasive techniques significantly decreases thyroid nodule volume, the thyroid nodule usually does not disappear and the challenges in this field are discussed (the efficacy of thermal ablation, a variable part of thyroid nodules that remains viable after thermal ablation, some of the nodules treated with thermal ablation may require a second treatment over time and the efficacy of thermal ablation in nodules with different phenotypes). However, although surgery still represents the "gold standard" for establishing the final histopathologic diagnosis, it is associated with lifelong thyroid hormone substitution need and serious complications in rare cases. Therefore, it should represent the ultima ratio only after a detailed diagnostic procedure. In the future, artificial intelligence-assisted programs for the evaluation and management of nodules are expected.

Fast intraoperative detection of primary CNS lymphoma and differentiation from common CNS tumors using stimulated Raman histology and deep learning.

Accurate intraoperative diagnosis is crucial for differentiating between primary CNS lymphoma (PCNSL) and other CNS entities, guiding surgical decision-making, but represents significant challenges due to overlapping histomorphological features, time constraints, and differing treatment strategies. We combined stimulated Raman histology (SRH) with deep learning to address this challenge. We imaged unprocessed, label-free tissue samples intraoperatively using a portable Raman scattering microscope, generating virtual H&E-like images within less than three minutes. We developed a deep learning pipeline called RapidLymphoma based on a self-supervised learning strategy to (1) detect PCNSL, (2) differentiate from other CNS entities, and (3) test the diagnostic performance in a prospective international multicenter cohort and two additional independent test cohorts. We trained on 54,000 SRH patch images sourced from surgical resections and stereotactic-guided biopsies, including various CNS tumor/non-tumor lesions. Training and test data were collected from four tertiary international medical centers. The final histopathological diagnosis served as ground-truth. In the prospective test cohort of PCNSL and non-PCNSL entities (n=160), RapidLymphoma achieved an overall balanced accuracy of 97.81% ±0.91, non-inferior to frozen section analysis in detecting PCNSL (100% vs. 78.94%). The additional test cohorts (n=420, n=59) reached balanced accuracy rates of 95.44% ±0.74 and 95.57% ±2.47 in differentiating IDH-wildtype diffuse gliomas and various brain metastasis from PCNSL. Visual heatmaps revealed RapidLymphoma's capabilities to detect class-specific histomorphological key features. RapidLymphoma is valid and reliable in detecting PCNSL and differentiating from other CNS entities within three minutes, as well as visual feedback in an intraoperative setting. This leads to fast clinical decision-making and further treatment strategy planning.

Adding "Unlikely" as a Clinical Qualifier Is Unlikely to Be of Help: A Retrospective, Single-Center, Cross-Sectional Cohort Study.

Clinical correlation is essential to accurate and efficient diagnosis and differential diagnosis in dermatopathology. Poor-quality clinical information can lead to failures and delays in patient care. Some clinicians use the term "unlikely" when submitting a specimen. How frequently the "unlikely" clinical diagnosis correlates with the final pathologic diagnosis is unknown. We studied 203 dermatopathology reports from December 8, 2020, to July 1, 2021, that included the qualifier "unlikely" on the requisition sheet. Samples were stratified into either an inflammatory or neoplastic cohort based on final histopathologic diagnosis, with the neoplastic cohort being further stratified into pigmented and nonpigmented cohorts. Statistical analyses were conducted. The "unlikely" diagnosis in the clinical differential diagnosis and the final histologic diagnosis were the same in 7.9% of the 203 samples studied. This occurred in 8.5% of the inflammatory cohort and 7.6% of the neoplastic cohort. We concluded that the use of the qualifier "unlikely" is not helpful. We acknowledge the limitations of our study because of a small sample.

AB006. The use of magnetic resonance spectroscopy in the differential diagnosis of paediatric intracranial tumours.

Despite different intracranial tumour subtypes varying largely in their prognoses and recommended treatment regimens, they can have markedly similar appearances on standard radiology, especially in paediatric patients where they tend to occur in the midline. There is a need for a non-invasive, accurate method of determining tumour diagnosis to help expedite treatment planning. Existing studies have found magnetic resonance spectroscopy (MRS) to have value in diagnosing intracranial tumours in adults. The aim of this study was to investigate whether MRS could be accurate in diagnosing and grading paediatric intracranial tumours. The hospital database was retrospectively searched for paediatric intracranial tumour patients ≤18 years that had 1.5 T MRS data available. Medical and demographic data were collected from existing records including MRS metabolites N-acetylaspartate (NAA), creatine (Cr), and choline (Cho), and final histopathologic diagnosis. MRS metabolites were then statistically compared against final histopathologic diagnosis. In total, 166 patients were included. In the overall cohort, the tumour to control tissue Cr ratio was significantly higher in grade 1 than grade 4 tumours (P=0.03), and tumour Cho/Cr was significantly higher in grade 4 than grade 1 tumours (P=0.004). When analyzing tumour subtypes, control tissue Cr was significantly higher in embryonal/germ cell tumours than glial tumours (P=0.044). Binary logistic regression models including MRS metabolite ratios and age, sex, and tumour location covariates could diagnose grade 4 tumours [area under the curve (AUC) =0.857], and grade 1 tumours (AUC =0.766) with reasonable accuracy. This study suggests that MRS has benefits in the non-invasive diagnosis of paediatric intracranial tumours, in particular, identifying low- and high-grade tumours. Future advances in MRS technology, and larger cross-sectional studies will be necessary to improve the clinical integration of MRS for accurate non-invasive paediatric intracranial tumour diagnosis.

Case Report of Lipomyoma

Report: Uterine lipoleiomyoma are rare forms of leiomyomas that are often only described in literature as case reports. Lipoleiomyomas could increase in size despite menopause and most commonly occur in postmenopausal women with an incidence rate of 0.03% to 0.2% Clinical symptoms of lipoleiomyoma are very similar to leiomyoma. Radiologic imaging can aid in the diagnosis of lipoleiomyoma with smooth muscle confined to the tumor periphery. In our case, we describe a 53y/o G0P0 perimenopausal patient who complained of abnormal uterine bleeding with irregular menses, urinary retention and difficulty completely emptying her bladder due to the large mass compressing her bladder. She was diagnosed with a large 8.8 cm hyperechoic lesion with internal vascularity arising from the central uterus/ endometrium. Radiology recommended a pelvic MRI for further differentiation of mass. Office hysteroscopy with endometrial biopsy was performed. Pathology confirmed limited inactive endometrium, benign endometrial surface epithelium. The patient requested a hysterectomy through a minimally invasive gynecologic surgery approach. A pelvic MRI was performed that revealed a large, round, circumscribed mass measuring 7.3 X 7.2 X 7.5 cm favoring to represent an intramural lipoleiomyoma. The patient had a robotic assisted laparoscopic hysterectomy which was uncomplicated. Final histopathologic diagnosis was uterine lipomyoma. As benign masses, management for lipoleiomyoma are guided by symptoms, fertility preservation desires, and whether or not a patient is a candidate for surgical intervention. Given the rarity of these cases, the histogenesis is still relatively unknown although various theories exist such as differentiation of embryonic fat cells, metaplastic changes of existing cells into fat cells, and pluripotent cell migration. Although there was not evidence of malignancy in our case report, certain literature has suggested the presence of coexisting malignancies and in an even rarer occasion the presence of liposarcoma from a lipoleiomyoma. More information is needed on these rare cases in order to further lead management and any recommendations regarding cancer screening on top of age related recommendations already in place.

Comparative accuracy of four guidelines to predict high-grade dysplasia or malignancy in surgically resected pancreatic intraductal papillary mucinous neoplasms: Small nuances between guidelines lead to vastly different results.

The guidelines regarding the management of intraductal papillary mucinous neoplasms (IPMNs) all have slightly different surgical indications for high-risk lesions. We aim to retrospectively compare the accuracy of four guidelines in recommending surgery for high-risk IPMNs, and assess the accuracy of elevated CA-19-9 levels and imaging characteristics of IPMNs considered high-risk in predicting malignancy or high-grade dysplasia (HGD). The final histopathological diagnosis of surgically resected high-risk IPMNs during 2013-2020 were compared to preoperative surgical indications, as enumerated in four guidelines: the 2015 American Gastroenterological Association (AGA), 2017 International Consensus, 2018 European Study Group, and 2018 American College of Gastroenterology (ACG). Surgery was considered "justified" if histopathology of the surgical specimen showed HGD/malignancy, or there was postoperative symptomatic improvement. Surgery was postoperatively justified in 26/65 (40.0%) cases. All IPMNs with HGD/malignancy were detected by the 2018 ACG and the combined (absolute and relative criteria) 2018 European guidelines. The combined ("high-risk stigmata" and "worrisome features") 2017 International guideline missed 1/19 (5.3%) IPMNs with HGD/malignancy. The 2015 AGA guideline missed the most cases (11/19, 57.9%) of IPMNs with HGD/malignancy. We found the features most-associated with HGD/malignancy were pancreatic ductal dilation, and elevated CA-19-9 levels. Following the 2015 AGA guideline results in the highest rate of missed HGD/malignancy, but the lowest rate of operating on IPMNs without these features; meanwhile, the 2018 ACG and the combined (absolute and relative criteria) 2018 European guidelines result in more operations for IPMNs without HGD/malignancy, but the lowest rates of missed HGD/malignancy in IPMNs.

Detection of Breast Lumps with Fine Needle Aspiration Cytology: Experience of 50 Cases in Bangladesh

Background: Detection of breast lump is very crucial. Objective: This study was carried out to evaluate the effectiveness of FNAC as a diagnostic method for breast lump. Methodology: This cross sectional study was conducted among 50 women with breast lump at Popular Medical College Hospital, Dhaka, Dhaka Medical College Hospital and Ad-Din Barrister Rafique Ul Huq Hospital, Dhaka during the period of November 2021 to April 2022. This study was conducted using convenient type of non-probability sampling technique. Data were collected by face to face interview, clinical examination and findings of both cytological and histopathological examination. Results: The study revealed the most benign breast lesion (89.45%) were below the age of 40 years and most of the breast cancer (91.2%) were above the age of 40 years. The study showed that 29 cases (58.0%) were diagnosed as benign clinically but cytologically 30(60.0%) cases were benign. Clinically 14(27.0%) cases were malignant but cytologically 13(26.0%) cases malignant. Clinical diagnosis of 8(7.5%) cases were uncertain, whereas cytologically 2(4.0%) cases were suspicious of malignancy and 1(2.0%) case was atypical. The comparison study between cyological and final histopathological diagnosis showed that out of 28 benign lesions diagnosed cytologically among which only 2 cases were found malignant histologically like false negative 2 (7.20%). 13 malignant cases were diagnosed cytologically which were confirmed histologically like no false positive was found. The study found that sensitivity of FNAC 85.3% of the presence of breast cancer and specificity 100.0% for absence of breast cancer. They also showed that the negative predictive value of FNAC for benign breast lump was 93.5% and positive predictive value for malignant breast lump was 100.0% and the overall diagnostic accuracy was 95.40%. Conclusion: In conclusion, FNAC can be used as a diagnostic method in the management of breast lump which has reasonable sensitivity and specificity. Journal of Current and Advance Medical Research, July 2023;10(2):65-69

Diagnostic Accuracy of Frozen Section Analysis and Factors Associated with Discordance of Final Histopathology in Mucinous Ovarian Tumor

Aim and Objective This article determines the diagnostic accuracy of frozen section (FS) in case of mucinous ovarian tumor (MOT) and tailoring of intraoperative treatment decision. Material and Methods This was an observational study in which retrospective data was analyzed prospectively from January 2008 to December 2015 at the Regional Cancer Center. This study included 158 patients with MOT who underwent FS analysis during staging laparotomy at our institute. FS's sensitivity, specificity, and diagnostic accuracy were calculated and compared with final paraffin histopathological examination (HPE). Univariate and multivariate analyses were done to decide factors associated with changes in final HPE. Results FS analysis and final HPE report were concordant in 77.8% (123/158) of the cases and discordant in 22.1% (35/158). Out of 35 discordant cases, 29 (18.3%) were upgraded and 06 (5.6%) were downgraded. Out of 33 borderline cases, 16 (48.4%) were upgraded to malignant MOT and 6 (18.1%) were downgraded to benign MOT on final HPE. Out of 40 malignant MOT, 40 (100%) showed malignancy on final HPE. In the case of benign MOT on FS, 13 out of 85 (15.2%) upgraded to borderline or malignant. Sensitivity and specificity of FS were 76.60 and 55.17%, respectively, for benign MOT, 55.17 and 86.96% for borderline MOT, and 86.96 and 100% for malignant MOT. Conclusion In MOT, due to its large size and heterogeneous nature, it displays spectrum of appearance ranging from benign cyst adenoma, and borderline tumor to adenocarcinoma. Our study showed significant discordance between FS and final histopathological diagnosis in borderline MOT.

Is a routine histopathological examination justified for all tumours resected from the upper extremity?

We analysed the results of histopathological examinations of benign tumours resected in 346 patients and malignant tumours resected in 6 patients. Our analysis showed a 100% concordance between the initial (clinical) diagnoses of the tumours as benign or malignant and their final histopathological diagnoses. Only in 12 cases (3.5%) of initially benign tumours did the clinical presentation and/or intraoperative findings raise doubts. The results of this study show that a routine histological evaluation of all tumours resected from the upper extremity is not justified and may be confined to selected cases in which clinical presentation and/or intraoperative findings raise doubts.

Abstract PO3-20-09: METACHRONOUS METAPLASTIC BREAST CARCINOMA IN A 55-YEAR-OLD PATIENT WITH SEROUS OVARIAN CARCINOMA

Abstract Metaplastic breast carcinoma is a rare histologic subtype of breast carcinoma, accounting for only 0.2 to 2% of all breast cancers. It is comprised of a heterogeneous histology involving mesenchymal and epithelial components. Metaplastic breast carcinoma usually harbors a triple-negative phenotype, but carries a worse prognosis compared to other breast cancer subtypes. Due to its unique histopathological and molecular characteristics, there has been limited data on the optimal management of metaplastic breast carcinoma. Moreover, the presence of a secondary breast neoplasm in the background of a prior ovarian carcinoma represents a diagnostic and therapeutic challenge. We report a case of a 55-year-old female with a previous history of serous ovarian carcinoma six years ago, who presented with an enlarging right breast mass. Digital mammography showed a right retro-areolar mass, 5.7 x 4.8 x 5.4 cm, BIRADS 4C. Initial biopsy done showed presence of atypical cells in a background of cystic change. The patient underwent modified radical mastectomy with incision biopsy and frozen section. Final histopathologic diagnosis was consistent with metaplastic breast carcinoma, mixed epithelial and mesenchymal type, Nottingham grade 2, with no lymphovascular invasion identified, pT2N0. Tumor was ER negative, PR negative, Her 2 neu negative, with Ki-67 of 10% on immunohistochemistry. She then underwent adjuvant treatment with 6 cycles of paclitaxel and carboplatin. Six years prior, the patient was likewise diagnosed with high-grade serous ovarian carcinoma. She had total abdominal hysterectomy with bilateral salpingo-oophorectomy and adjuvant chemotherapy with 6 cycles of Paclitaxel and Carboplatin was given. She had recurrence in the paraaortic lymph node after 3 years and underwent cytoreductive surgery with excision of nodule and hyperthermic intraperitoneal chemotherapy with cisplatin. Currently, the patient has no evidence of disease in the recent positron emission tomography scan, with normal serum CA-125 level. The current standard of care for metaplastic breast carcinoma follows that of triple-negative breast cancer. However, previous literature has shown that metaplastic breast carcinoma is more chemo-refractory compared to triple-negative breast cancer, with more response seen with taxane-based chemotherapy. Due to poor response rates to neoadjuvant chemotherapy, surgical management for early-stage disease is warranted. Targeting molecular alterations is necessary to improve the prognosis of this subtype. Genomic features of homologous recombination deficiency were also found to be more prevalent in metaplastic breast cancer, thus genomic testing is warranted, especially in the setting of a prior history of ovarian carcinoma. Citation Format: Raye Angeli Abella, Carlos Dy. METACHRONOUS METAPLASTIC BREAST CARCINOMA IN A 55-YEAR-OLD PATIENT WITH SEROUS OVARIAN CARCINOMA [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-20-09.

Combination of Tractography, Intraoperative Computed Tomography and 5-Aminolevulinic Acid Fluorescence in Stereotactic Brain Biopsies: A Case Series.

Stereotactic needle biopsy (SNB) may be performed to collect tissue samples from lesions not amenable to open surgery. Integration of tractography, intraoperative imaging and fluorescence has been applied to reduce risk of complications and confirm the adequacy of bioptic specimens. Clinical and radiological data from patients who underwent stereotactic needle biopsy with the use of intraoperative CT, tractography and 5-aminolevulinic acid (5-ALA) fluorescence in a single Hospital were retrospectively reviewed to evaluate the accuracy and safety of the procedure. Seven patients were included in the study, and all the collected specimens showed red fluorescence. In six of them, the final histopathological diagnosis was grade 4 glioblastoma IDH-wt and in the other case it was Diffuse large B-Cell Lymphoma. The integration of tractography, intraoperative CT and 5-ALA as an intraoperative marker of diagnostic samples may be suggested in biopsies of suspect gliomas and lymphomas. The cost-effectiveness of the procedure should be evaluated in future studies.

Evaluation of Ki-67, goblet cell and MUC2 mucin RNA expression in dogs with lymphoplasmacytic and granulomatous colitis

Intestinal mucus barrier disruption may occur with chronic inflammatory enteropathies. The lack of studies evaluating mucus health in dogs with chronic colitis arises from inherent challenges with assessment of the intestinal mucus layer. It is therefore unknown if reduced goblet cell (GBC) numbers and/or mucin 2 (MUC2) expression, which are responsible for mucus production and secretion, correlate with inflammation severity in dogs with granulomatous colitis (GC) or lymphocytic-plasmacytic colitis (LPC). It is undetermined if Ki-67 immunoreactivity, which has been evaluated in dogs with small intestinal inflammation, similarly correlates to histologic severity in GC and LPC. Study objectives included comparing Ki-67 immunoreactivity, GBC population and MUC2 expression in dogs with GC, LPC and non-inflamed colon; and exploring the use of ribonucleic acid (RNAscope®) in-situ hybridization (ISH) to evaluate MUC2 expression in canine colon. Formalin-fixed endoscopic colonic biopsies were obtained from 48 dogs over an eight-year period. A blinded pathologist reviewed all biopsies. Dogs were classified into the GC (n=19), LPC (n=19) or no colitis (NC) (n=10) group based on final histopathological diagnosis. Ki-67 immunohistochemistry, Alcian-Blue/PAS staining to highlight GBCs, and RNAscope® ISH using customized canine MUC2-targeted probes were performed. At least five microscopic fields per dog were selected to measure Ki-67 labelling index (KI67%), GBC staining percentage (GBC%) and MUC2 expression (MUC2%) using image analysis software. Spearman’s correlation coefficients were used to determine associations between World Small Animal Veterinary Association histologic score (WHS) and measured variables. Linear regression models were used to compare relationships between WHS with KI67%, GBC%, and MUC2%; and between GBC% and MUC2%. Median WHS was highest in dogs with GC. Median KI67% normalised to WHS was highest in the NC group (6.69%; range, 1.70–23.60%). Median GBC% did not correlate with colonic inflammation overall. Median MUC2% normalised to WHS in the NC group (10.02%; range, 3.05–39.09%) was two- and three-fold higher than in the GC and LPC groups respectively. With increased colonic inflammation, despite minimal changes in GBC% overall, MUC2 expression markedly declined in the LPC group (-27.4%; 95%-CI, −49.8, 5.9%) and mildly declined in the GC and NC groups. Granulomatous colitis and LPC likely involve different pathways regulating MUC2 expression. Decreased MUC2 gene expression is observed in dogs with chronic colitis compared to dogs without colonic signs. Changes in MUC2 expression appear influenced by GBC activity rather than quantity in GC and LPC.

Bilateral breast metastasis from renal cell carcinoma, do not overlook this diagnosis: case report

BackgroundRenal cell carcinoma rarely metastasizes to the breast. Few cases are reported in the literature. We describe a unique case of bilateral breast metastasis from an RCC treated five years ago. To the best of our knowledge, this would be the first reported case in Egypt.Case presentationA 65-year-old Egyptian woman who underwent a nephrectomy for a renal cell carcinoma 5-years ago, showed up complaining of bloody nipple discharge from her right breast without any palpable lumps. Mammo-sonography showed multiple bilateral regular breast masses and a worrisome left axillary lymph node. Needle core biopsies were obtained and a final histopathological diagnosis of bilateral metastatic deposits from clear cell renal cell carcinoma (RCC) was made.ConclusionThe differential diagnosis of bilateral breast masses should consider metastatic disease of the breast, particularly in patients with a previous history of malignancies.

When biopsy goes wrong: a case series of misdiagnoses and complications from biopsies of masses of unknown origin potentially originating from a peripheral nerve.

Biopsies of peripheral nerve tumors (PNTs) are often used to plan an efficient treatment strategy. However, performing a biopsy is controversial when the mass is likely to be a benign PNT (BPNT). The aim of this study was to evaluate the side effects of biopsies in patients with potential PNTs. A retrospective and cross-sectional study was conducted on 24 patients who underwent biopsy of a mass of unknown origin potentially originating from a peripheral nerve (MUOPON), performed in nonspecialty services, and who were later referred to the authors' service for resection of their lesion between January 2005 and December 2022. The patients were evaluated for pain score, presence of a motor or sensory deficit, biopsy diagnosis, and definitive histopathological postsurgical diagnosis. The location of the tumor was supraclavicular in 7 (29.2%) patients, in the axillary region in 3 (12.5%), in the upper limb in 7 (29.2%), and in the lower limb in 7 (29.2%). Twenty-one (87.5%) patients were evaluated by MRI before biopsy, and 3 (12.5%) underwent ultrasound. One patient did not have an examination before the procedure. Based on the biopsy findings, 12 (50%) analyses had an inconclusive histopathological result. The preexisting pain worsened, as measured 1 week after biopsy, in all patients and had remained unchanged at the first evaluation by the authors (median 3 months, range 2-4 months). In 1 case, the open biopsy had to be interrupted because the patient experienced excruciating pain. Four (16.7%) patients developed motor deficits. Subsequent surgery was hampered by scar formation and intratumoral hemorrhage in 5 (20.8%) patients. The initial diagnosis obtained by biopsy differed from the final histopathological diagnosis in all patients, of whom 21 (87.5%) had BPNTs, 2 (8.3%) malignant peripheral nerve sheath tumors, and 1 (4.2%) an ancient schwannoma. Biopsies of PNTs are controversial and may result in misdiagnosis, neuropathic pain, or neurological deficit due to axonal damage, and they may also hinder microsurgical resection when if performed when not indicated. Indications for biopsy of an MUOPON must be carefully considered, especially if BPNT is a possible diagnosis.

P1065 Endoscopic Submucosal Dissection for High-Risk Colorectal Colitis-Associated Neoplasia in Inflammatory Bowel Disease: a Real-World Multicenter Study

Abstract Background Inflammatory bowel disease (IBD) patients have a 2-3-fold increased risk of developing colorectal cancer. High-risk colorectal colitis-associated neoplasia (HR-CAN), including non-polypoid lesions and large non-pedunculated colon polyps, are often not amenable to conventional resection techniques. Aim of this study was to evaluate effectiveness and safety of endoscopic submucosal dissection (ESD) of HR-CANs. Methods In this real-world, multicenter, retrospective study, we included consecutive IBD patients referred to nine Tertiary Italian Endoscopy Centers (January 2014 - April 2023) to undergo an ESD or a hybrid-ESD (hESD), for HR-CANs. The primary outcome was rate of en bloc, R0 resection and adverse events (AEs). The secondary outcome was rate of local recurrence, metachronous lesions, and post-dissection surgery. Results 96 HR-CANs (89.6% non-polypoid, 79.2% left-side colon, 34.8 mm ± 16.2 mm, 15.6% invasive pit-pattern) in 91 patients with colonic IBD (58.2% male, 60.8 ± 12.2 years, 83.4% ulcerative colitis, disease duration of 183 ± 104 months, 14.3% endoscopic activity) were included. ESD and hESD were performed in 82.3% and 17.7% of cases. The final histopathological diagnoses were serrated sessile lesions in 14.6%, low-grade dysplasia in 32.3%, high-grade dysplasia in 38.5%, adenocarcinoma in 14.6%. Overall, en bloc and R0 resection were achieved in 95.9% and 85.4% of cases. AEs occurred in 12.5% of cases, all managed endoscopically and conservatively. After a mean follow-up of 23.4 months, local recurrence and metachronous lesions occurred each in 3.1% (n=3) of cases. Post-dissection surgery was required in 11.5% (n=11) of cases (7 for histopathology, 2 for recurrences, 2 for refractory IBD). At univariate analysis the left site was identified as a predictor of higher rate of en bloc resection (OR 0.07; 0.007-0.77; p=0.02), while the female sex as a predictor of lower rate of AEs (OR 0.17; 0.03-0.81; p=0.02). Further, the invasive pit pattern was associated with higher rate of post-dissection surgery (OR 6.25; 1.6-24.3; p=0.008). Conclusion Our findings showed that ESD of HR-CANs, when performed in Tertiary Endoscopy Centers, was effective and safe in patients with colonic IBD. However, further prospective studies including a long-term follow-up are still required to highlight the impact of ESD for IBD patients’ dysplasia-free survival.