Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature.

Melanocytic lesions involving the central nervous system are extremely rare and pose a diagnostic challenge owing melanoma being the third most common malignancy metastasizing to the spine. Morphology and immunohistochemistry are identical in both primary and secondary cases, and hence may not help in rendering a final diagnosis. Molecular alterations involving melanomas of the spine and melanomas elsewhere are distinct and help establish the appropriate diagnosis. We report an interesting case where molecular profiling of the tumor tissue helped render the final diagnosis.

Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer.

With the advent of molecular immunohistochemistry and next generation sequencing, Switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex altered tumors have gained recognition recently. SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1 (SMARCB1) and SMARCA4 are the primary SWI/SNF components altered in several recently described undifferentiated malignancies in head and neck region with predilection for paranasal sinuses in SMARCB1-deficient tumors and nasal cavity in SMARCA4-deficient tumors. However, to the best of our knowledge, SMARCA4-deficient tumors of the oropharynx have not been described. We present an unusual case of SMARCA4-deficient carcinoma of the oropharynx (palatine tonsil) which is the first case in the literature, expanding the topographic distribution of SMARCA4-deficient tumors in the head and neck region and emphasizing the importance of BRG1 as an essential immunohistochemical marker for the diagnosis of this distinct entity.

Application of lean methodology to frozen section workflow - An audit of present practices at a single large oncology center.

AIM: We conducted a pilot study to analyze the frozen section workflow in the histopathology department and to construct a future state map using Lean management for a better efficiency. METHOD: We analyzed the current state of frozen section workflow in our department, from receipt of the specimen to delivery of slides to the pathologist to communication of report to the surgeon by using value-stream mapping and spaghetti diagram. Further, with the help of the fishbone diagram and Pareto's chart, root cause analysis was done, and a future state map was created with help of a spaghetti diagram to eliminate the non-value-added steps. RESULTS: Our current value-stream map identified a total specimen processing time of 3393 min of which 2880 min were value-added, translating to a process cycle efficiency of 84.88 %. Also, with the help of tools of lean management we constructed a future state map to improve process cycle efficiency. CONCLUSION: In this study, we have attempted to use a few tools of lean management systems and suggested ways for continuous improvements that can be successfully implemented in histopathology laboratories.

Myeloid sarcoma presenting as nasopharyngeal mass: A rare clinicopathological scenario.

Myeloid sarcoma (MS) is considered as an extramedullary manifestation of acute myeloid leukemia (AML) with or without concurrent AML. It can present at any age and any site, however, nasopharynx being an extremely rare site of manifestation. MS may precede AML by weeks, months or years, thereby necessitating an early diagnosis and timely intervention and treatment. We report a case of MS in a young female who presented with nasal obstruction and epistaxis for 3 months. The present case also highlights the significance of judicious use of immunohistochemistry panel while dealing with a hematolymphoid neoplasm devoid of expression of B-cell or T cell specific markers in head and neck region.

Founder BRCA1 mutations in Nepalese population.

BACKGROUND: Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene. The current study reports two founder mutations in the BRCA1 gene in the Nepalese people. METHODS: Germline BRCA testing in all surface epithelial ovarian cancers and the selected case of breast, prostate, and pancreatic cancers has been the standard practice from 2016 to 2021. One thousand one hundred thirtythree probands were screened for germline BRCA variants by next generation sequencing. The variants were classified as per the American Society of Medical Genetics and Genomics recommendations. Pathogenic (class V) and likely pathogenic (class IV) were considered clinically relevant and utilized for cascade screening. RESULTS: Nepalese population made up a subcohort of 5.12% (58/1,133) of probands tested for germline BRCA1/2 variants. Twenty-seven of these 58 tested harbored pathogenic genetic alterations in BRCA1/2 genes, with 23 being BRCA1 mutant. Sixteen of 23 BRCA1 mutant cases shared one common pathogenic mutation c.2214_2215insT (p.Lys739Ter) (NM_007294.4). Additionally, a second highly recurrent mutation in BRCA1 gene c.5068A>T (p.Lys1690Ter) (NM_007294.4) was noted in six patients from this population. CONCLUSIONS: The overwhelming abundance of the above two variants in a geographically confined population confers these two genetic alterations a status of founder mutations amongst the people of Nepal. A more extensive population-based study to reaffirm these findings will help establish a dual site-specific germline testing similar to the "Multisite-3-assay" in Ashkenazi Jews as the primary screening tool, especially in a resource-constrained environment.

Intrathyroidal Plasmacytoma with Pleomorphic Multilobated Bizarre Cells: A Rare Primary Clinicopathological Presentation Mimicking Anaplastic Carcinoma of Thyroid.

BACKGROUND: Plasmacytoma involving thyroid gland is infrequent and can present as either primary extramedullary plasmacytoma or secondary to multiple myeloma. METHODS AND RESULTS: We present a case of 71 years old male who complained of a huge anterior neck swelling accompanied by dysphagia and dyspnoea. Fine needle aspiration cytology was suggestive of anaplastic carcinoma of thyroid (ATC), however, the subsequent histomorphology supported by immunohistochemistry (IHC) astoundingly favoured the diagnosis of plasmacytoma. Further evaluation revealed the presence of lymphadenopathy and single bone lesion in the present case which was rather suggestive of secondary involvement of thyroid to multiple myeloma. However, the case was unique in view of its presentation as a rapidly enlarging thyroid mass associated with stridor and cytomorphological findings which were of an undifferentiated malignancy favouring ATC. The use of a broad and judicious IHC panel clinched the final diagnosis of plasmacytoma. CONCLUSION: The present case emphasizes the diligent use of IHC in such cases given different therapeutic and prognostic implications.

TTF1-positive SMARCA4/BRG1 deficient lung adenocarcinoma.

SMARCA4/BRG1-deficient lung adenocarcinoma (SD-LUAD) is being recognized as a distinct subtype based on subtle differences in its clinical, morphological, and immunophenotypic attributes compared to other non-small cell lung carcinomas. We present here a case of SD-LUAD with curious thyroid transcription factor 1 (TTF1) expression in a morphologically heterogenous lung adenocarcinoma. The better differentiated area showed preservation of TTF1 expression, and a poorly differentiated tumor had loss of TTF1 expression with universal BRG1 loss.

A WhatsApp-based introductory histopathology and cytology course for first-year pathology postgraduate students.

Background The first-year pathology postgraduates can take a long time to learn the basic skills of microscopy, which can become a barrier to learning. Methods A WhatsApp group comprising all 14 postgraduate first-year students with one senior resident and one faculty as group administrators was formed. For the study, 50 routine cases (35 histopathology cases and 15 cytopathology cases) captured by using a smartphone camera and annotated using image-editing software, along with relevant descriptions and weblinks, were sent to the WhatsApp group. A pre- and post-test comprising 15 cases each was conducted and the results were compared by non-parametric Wilcoxon rank test. A feedback form about the effectiveness of this method of learning was circulated at the end of the study. Results The results of the post-test were better than the pre-test by the non-parametric Wilcoxon rank test. Both the active participants (>10 posts) and passive participants of the study group showed statistically significant improvement in the scores and posted a similar number of intellectually thought-provoking posts. The students' responses to the questionnaire also indicated that they liked the new method of instruction. Conclusion This pilot study shows that smartphone-based learning methods can supplant the traditional methods of teaching for pathology postgraduates.

A Rare Case of Nasal Glial Heterotopia in an Infant.

Glial heterotopias are the displacement of neuroglial tissue in extracranial sites. Nasal glial heterotopias can be of three types-extranasal, intranasal and mixed. Root of the nose is the most common location. These are rare anomalies with an incidence of 1 case in 20,000-40,000 live births. Here we report the case of a 6-month-old infant with a congenital mass located at the root of the nose. Non-contrast computed tomography studies showed no evidence of intracranial communication of the lesion. The mass was excised, and on histopathological examination, it showed glial tissue with astrocytes in a fibrillary background and fibroconnective tissue. Masson's trichrome stain showed the red staining of the glial tissue, whereas the background fibrosis was stained blue. On immunohistochemistry, glial fibrillary acidic protein was positive. Hence, the diagnosis of nasal glial heterotropia was made. The patient had an uneventful postoperative period.

Smartphone-assisted tele-gynepathology: A pilot study.

INTRODUCTION: Traditional telepathology techniques like whole slide imaging require expensive equipment and are currently out of reach of the developing countries. However, the improvements in smartphone camera resolution and availability of faster internet have made smartphone-assisted telepathology possible. METHODS: A total of 186 cases pertaining to gynecologic pathology reported by single consultant (NT) were retrieved from the records of the histopathology department. A trained histopathologist then photographed representative areas of each case by using the smartphone camera. After a wash off period of 6 months, the images along with the clinical details were sent by Whatsapp Messenger to the same reporting pathologist. The reporting pathologist replied with the diagnosis of each case by using Whatsapp. RESULTS: The smartphone diagnosis was concordant in 179/186 (96.2%) cases. The intraobserver concordance rates varied with the organ involved - it was highest for endometrial and myometrial pathology (123/126, 97.6%) lowest for ovarian lesions (08/10, 80%). For cervical pathology, it was 97.2% (35/36) and for fallopian tube pathology it was 92.9% (13/14). CONCLUSION: Although the initial results of this pilot study are encouraging, there is a long way to go before smartphone-assisted telepathology can be put to routine use for the second opinion. More experience of the pathologists with this technique and faster internet and better smartphone cameras will further improve the concordance of smartphone-assisted telepathology diagnosis with conventional microscopy diagnosis.

Smartphone-Assisted Telecytopathology: An Intraobserver Concordance Study.

INTRODUCTION: Telecytology is the practice of cytology at a distance. The images captured by a camera are sent to the cytopathologist at a different location who views the images and reaches a diagnosis. Recently, smartphone-assisted telepathology has been evaluated for different subspecialities of pathology including cytology for second opinion. MATERIALS AND METHODS: For the purpose of the study, a total of 151 cases of fine needle aspiration and 10 cases of urine cytology reported by a single pathologist were retrieved from the records. The images of all the cases were captured by a trained pathologist using the primary camera of a smartphone from the ocular of a binocular microscope. The images were sent by WhatsApp to the same pathologist who had made the conventional microscopy diagnosis. The images were viewed on the smartphone screen by the pathologist who replied with the diagnosis after analysing all the images with or without digital zoom. RESULTS: A total of 154 cases out of 161 were correctly diagnosed on smartphone-assisted telepathology (overall intraobserver concordance of 95.6%). For head and neck swellings, the concordance was 65/70 (92.9%), for breast lesions, it was 23/24 (95.8%), and for miscellaneous swellings, it was 57/57 (100%). For urine cytology, the concordance rate was 9/10 (90%). CONCLUSION: Though the results of this study are encouraging, further improvement in the smartphone camera resolution and internet connectivity would enhance the utility of smartphone-assisted telecytopathology.

Intraoperative Squash Smear Cytology in CNS Lesions: A Study of 150 Pediatric Cases.

BACKGROUND: Tumors of the central nervous system in the pediatric age group occur relatively frequently during the early years of life. Brain tumors are the most common solid malignancies of childhood and only second to acute childhood leukemia. Squash cytology is an indispensable diagnostic aid to central nervous system (CNS) lesions. The definitive diagnosis of brain lesions is confirmed by histological examination. AIM: To study the cytology of CNS lesions in pediatric population and correlate it with histopathology. MATERIALS AND METHODS: One hundred and fifty cases of CNS lesions in pediatric patients were studied over a period of 2 years. Intraoperative squash smears were prepared, stained with hematoxylin and eosin, and examined. Remaining sample was subjected to histopathological examination. RESULTS: Medulloblastoma (24.0%) was the most frequently encountered tumor followed by pilocyctic astrocytoma (21.33%) and ependymoma (13.33%). Diagnostic accuracy of squash smear technique was 94.67% when compared with histological diagnosis. CONCLUSION: Smear cytology is a fairly accurate tool for intraoperative CNS consultations.

Intraoperative Squash Smear in Central Nervous System Tumors and Its Correlation with Histopathology: 1 Year Study at a Tertiary Care Centre.

BACKGROUND: Intraoperative squash smear cytology is a simple and reliable technique for rapid intraoperative diagnosis of neurosurgical specimens. The study was designed to assess the accuracy of intraoperative squash smear in the diagnosis of central nervous system (CNS) space-occupying lesions. MATERIALS AND METHODS: One hundred and fifty cases of CNS space-occupying lesion were studied in a period of 15 months. Smears were prepared from the biopsy sample obtained at the time of operation and were stained with rapid hematoxylin and eosin method. RESULTS: One hundred and forty-one cases showed complete correlation with histopathology, two cases showed partial correlation, and seven cases were discrepant. The overall diagnostic accuracy was found to be 94%. CONCLUSION: Intraoperative squash smear thus provides diagnosis with fair accuracy in brain tumors and is of great value in intraoperative consultation.