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20. SMARCA4/BRG1-Deficient Sinonasal Carcinoma: Morphologic Spectrum of an Evolving Entity

Author

Kakkar, Aanchal, Ashraf, Subiyathul Farah, Rathor, Amber, Adhya, Amit Kumar, Mani, Suresh, Sikka, Kapil, and Jain, Deepali

Subjects
Immunohistochemistry -- Analysis, Nose cancer -- Care and treatment -- Genetic aspects, Keratin -- Analysis, Health
Abstract

* Context.--Molecular analysis of poorly differentiated/ undifferentiated sinonasal neoplasms has resulted in identification of a growing number of genetically defined tumors. SMARCA4-deficient sinonasal carcinoma is one such recently described entity that emerged from within sinonasal undifferentiated carcinoma (SNUC), neuroendocrine carcinoma (NEC), and teratocarcinosarcoma (TCS). Objective.--To identify SMARCA4-deficient sinonasal carcinomas from a large institutional cohort of poorly differentiated/undifferentiated carcinomas and evaluate their clinicopathologic features. Design.--SMARCA4/BRG1 immunohistochemistry was performed on all tumors diagnosed as SNUC, poorly differentiated carcinoma, NEC, and TCS during a 12-year period. SMARCA2/BRM and INSM1 immunostaining was performed in SMARCA4-deficient cases. Results.--Twelve SMARCA4-deficient sinonasal carcinomas were identified among 299 cases. Morphologically, 5 cases were large cell NEC, 2 cases were small cell NEC, and 5 were TCS. SMARCA4 loss was diffuse and complete in 10 cases, while 2 cases showed focal retention. Most cases showed diffuse cytokeratin staining accompanied by weak, usually focal staining for chromogranin and synaptophysin. INSM-1 showed negativity in most cases. All cases showed retained SMARCA2 expression. IDH1/2 mutation was absent in all cases analyzed. Four of 7 patients died of disease, and aggressive multimodality treatment provided better outcome. Conclusions.--SMARCA4-deficient sinonasal carcinomas are morphologically akin to sinonasal poorly differentiated NECs and TCS, display cytokeratin positivity and only focal staining for neuroendocrine markers, and have aggressive biological behavior. Inclusion of SMARCA4 in the immunohistochemical panel for diagnostic workup of all sinonasal NEC and TCS phenotypes will facilitate their early recognition. Comprehensive germline and somatic mutational analyses of these tumors are necessary for further insights into their molecular pathogenesis. (Arch Pathol Lab Med. 2022;146:1122-1130; doi: 10.5858/arpa.2021-0001-OA), The sinonasal tract harbors a diverse spectrum of high-grade neoplasms, many of which have considerable overlapping morphologic features owing to their poorly differentiated or undifferentiated appearance. (1,2) Some of these [...]

Published
2022
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25. Orbital Sarcoma with <italic>BCOR</italic> Genetic Alterations in the Pediatric Age Group.

Author

Salman, Syed Saad, Kakkar, Aanchal, Kashyap, Seema, Rastogi, Sameer, and Meel, Rachna

Subjects
*CELL tumors, *CELL nuclei, *ORBITS (Astronomy), *SARCOMA, EYE-socket tumors
Abstract

AbstractIntroduction: Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with BCOR genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by BCOR rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis. Patients: We describe two cases of orbital sarcomas with BCOR genetic alterations. Results: Both girls, 8 and 16 months of age, respectively, presented with progressive proptosis. Both tumors showed sheets of round to ovoid cells with monomorphic nuclei and frequent mitoses. Delicate branching capillaries and myxoid stroma were absent. Diffuse BCOR, cyclin D1, and SATB2 immunopositivity was present. Conclusion: Orbital sarcomas with BCOR genetic alterations are extremely rare. Pathologists should have high index of suspicion for novel genetically defined entities in the differential diagnosis of pediatric orbital URCS and perform appropriate ancillary tests for accurate diagnosis. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Virological and cytological changes in tears and conjunctiva of patients with COVID-19

Author

Angmo, Dewang, Mahalingam, Karthikeyan, Kakkar, Aanchal, Rathod, Aishwarya, Meena, Suman, Kaur, Avneet, Choudhary, Aashish, Sharma, Puneet, Dar, Lalit, Samaddar, Arpan, Trikha, Anjan, Saxena, Rohit, Titiyal, Jeewan, and Sharma, Namrata

Subjects
Virulence (Microbiology) -- Analysis, Eye diseases -- Risk factors -- Prevention, Tearing -- Composition, Conjunctiva -- Analysis, Health
Abstract

Byline: Dewang. Angmo, Karthikeyan. Mahalingam, Aanchal. Kakkar, Aishwarya. Rathod, Suman. Meena, Avneet. Kaur, Aashish. Choudhary, Puneet. Sharma, Lalit. Dar, Arpan. Samaddar, Anjan. Trikha, Rohit. Saxena, Jeewan. Titiyal, Namrata. Sharma Purpose: [...]

Published
2023

31. Isolated masseter muscle fungal invasion: unmasking the culprit.

Author

Tandan, Nisha, Reddy, Akshara Pal, Verma, Hitesh, and Kakkar, Aanchal

Abstract

This case report focusses on a unique and infrequently observed event where an isolated masseter muscle fungal invasion was seen. The patient’s symptoms include facial swelling and restricted mouth opening. The rarity of this particular manifestation is emphasised by the fact that there are no previously reported cases where fungal infection was the cause of isolated masseter muscle involvement. This lack of documented cases underscores the novelty and significance of the current case. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma.

Author

Sharma, Ananya, Aggarwal, Bhawana, Kakkar, Aanchal, Pandey, Niraj Nirmal, and Taneja, Neha

Subjects
MACULES, TUBEROUS sclerosis, CHORDOMA, GENETIC disorder diagnosis, DERMOSCOPY, INFANTS, DELETION mutation
Abstract

A 2‐month‐old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash‐leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules. [ABSTRACT FROM AUTHOR]

Published
2024
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43. Acinar cell carcinoma of the uncinate process of the pancreas in a child managed sans Whipple's procedure-a rare case scenario

Author

Goel, Tanvi, Anand, Sachit, Dhua, Anjan, Kakkar, Aanchal, Agarwala, Sandeep, and Bhatnagar, Veereshwar

Subjects
Carcinoma, Cancer, Pancreatic cancer, Health
Abstract

Byline: Tanvi. Goel, Sachit. Anand, Anjan. Dhua, Aanchal. Kakkar, Sandeep. Agarwala, Veereshwar. Bhatnagar Acinar cell carcinoma (ACC) is a rare malignant tumor of the pancreas. A 10-year-old girl presented with [...]

Published
2022

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