SMARCB1/INI1-deficient intrathoracic neoplasm with rhabdoid/plasmacytoid cytomorphology in a patient with plasma cell myeloma: A case report.
INI1
SMARCB1
myeloma
pleural effusion
rhabdoid/plasmacytoid
Journal
Diagnostic cytopathology
ISSN: 1097-0339
Titre abrégé: Diagn Cytopathol
Pays: United States
ID NLM: 8506895
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
revised:
03
07
2023
received:
17
04
2023
accepted:
12
07
2023
medline:
4
9
2023
pubmed:
21
7
2023
entrez:
21
7
2023
Statut:
ppublish
Résumé
SMARCB1 (INI1) is one of the switch/sucrose nonfermentable (SWI/SNF) complexes whose loss is associated with several tumors. SMARCB1 (INI1)-deficient intrathoracic neoplasms are extremely rare and known to be highly malignant and lethal. This report presents the case of a patient diagnosed with SMARCB1 (INI1)-deficient intrathoracic neoplasm during chemotherapy for plasma cell myeloma. A 77-year-old male patient complained of cough, bloody sputum, and fever with an enlarged right lung mass and pleural effusion. His cytological examination revealed undifferentiated epithelioid and rhabdoid/plasmacytoid cells with bi- or multinucleation, vacuolization, mitosis, and pleomorphism. However, it was difficult to distinguish the relapse of plasma cell myeloma as atypical plasmacytoid cells were detected. Immunohistochemically, the neoplastic cells showed a loss of SMARCB1 (INI1) expression in the cell block of pleural fluid and in the right lung of the autopsy specimen. Further, the patient was diagnosed with SMARCB1 (INI1)-deficient intrathoracic neoplasm of the right lung based on histological and autopsy findings. To the best of our knowledge, this is the first report of cytomorphology in a SMARCB1 (INI1)-deficient intrathoracic neoplasm.
Substances chimiques
SMARCB1 Protein
0
Biomarkers, Tumor
0
SMARCB1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
E294-E300Informations de copyright
© 2023 The Authors. Diagnostic Cytopathology published by Wiley Periodicals LLC.
Références
Chabanon RM, Morel D, Postel-Vinay S. Exploiting epigenetic vulnerabilities in solid tumors: novel therapeutic opportunities in the treatment of SWI/SNF-defective cancers. Semin Cancer Biol. 2020;61:180-198.
WHO classification of tumors editorial board. WHO classification of tumors. Thoracic Tumors. Vol 5. 5th ed. World Health Organization; 2021:111-114.
Kohashi K, Oda Y. Oncogenic roles of SMARCB1/INI1 and its deficient tumors. Cancer Sci. 2017;108:547-552.
Alessi JV, Ricciuti B, Spurr LF, et al. SMARCA4 and other SWItch/sucrose nonfermentable family genomic alterations in NSCLC: Clinicopathologic characteristics and outcomes to immune checkpoint inhibition. J Thorac Oncol. 2021;16:1176-1187.
Haberecker M, Bühler MM, Mendieta AP, et al. Molecular and immunophenotypic characterization of SMARCB1 (INI1): deficient intrathoracic neoplasms. Mod Pathol. 2022;35:1860-1869.
Rickard JA, Burr ML, Williams B, et al. SMARCB1/INI1-deficient primary lung carcinoma with hepatic metastasis. Pathology. 2022;54:817-820.
Yoshida K, Fujiwara Y, Goto Y, et al. The first case of SMARCB1 (INI1): deficient squamous cell carcinoma of the pleura: a case report. BMC Cancer. 2018;18:398.
Priya D, Sadasivan B, Patil Okaly GV, Mukunda Pai M, Alashetty S, Kavitha BL. Cytomorphological and immunohistochemical features of renal and extrarenal rhabdoid tumors. Diagn Cytopathol. 2021;49:711-717.
Sharma R, Thirunavukkarasu B, Nalwa A, Pathak M, Garg PK. Malignant rhabdoid tumour of liver: conundrum on ascitic fluid. Diagn Cytopathol. 2023;51:276-279.
Tomomasa R, Nakata S, Nobusawa S, et al. Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumor diagnosed by cerebrospinal fluid cytology: case report with molecular genetic analysis. Hum Pathol. 2018;77:116-120.
Wakely PE Jr. Cytopathology of classic type epithelioid sarcoma: a series of 20 cases and review of the literature. J Am Soc Cytopathol. 2020;9:126-136.
Wang L, Yee-Chang M, Sun W, Melamed J, Simsir A, Shi Y. Myoepithelial carcinoma of soft tissue is a diagnostic challenge on fine-needle aspiration: case report and review of literature. Diagn Cytopathol. 2022;50:E203-E209.
Allison DB, Bishop JA, Ali SZ. Cytopathologic characteristics of SMARCB1 (INI-1) deficient sinonasalcarcinoma: a potential diagnostic pitfall. Diagn Cytopathol. 2016;44:700-703.
Minoshima A, Sugita S, Segawa K, et al. Usefulness of cell block examination for the cytological diagnosis of thoracic SMARCA4-deficient undifferentiated tumor: a case report. Diagn Cytopathol. 2023;51:E149-E154.
WHO classification of tumors editorial board. WHO classification of tumors. Haematopoietic and Lymphoid Tumors. 4th ed. World Health Organization; 2017:243.
Gochhait D, Dey P, Verma N. Cytology of plasma cell rich effusion in cases of plasma cell neoplasm. J Cytol. 2016;33:150-153.