Coinactivation of the Switch/Sucrose Nonfermenting Complex SMARCA4/BRG1 and SMARCB1/INI1 in a Cervical Mixed Carcinoma: A Case Report.
Journal
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
ISSN: 1538-7151
Titre abrégé: Int J Gynecol Pathol
Pays: United States
ID NLM: 8214845
Informations de publication
Date de publication:
01 Nov 2024
01 Nov 2024
Historique:
medline:
18
10
2024
pubmed:
18
10
2024
entrez:
17
10
2024
Statut:
ppublish
Résumé
SMARCB1/SMARCA4-deficient malignancies of the female genital tract are rare entities, characterized by similar histologic features, such as sheet-like growth patterns and rhabdoid cells. Previous studies have shown mutually exclusive loss of SMARCA4/BRG1 and SMARCB1/INI1. Herein, we describe a unique cervical mixed carcinoma in a 77-year-old patient. The tumor consisted of 3 components, gastric-type adenocarcinoma, squamous carcinoma, and undifferentiated carcinoma. While the undifferentiated carcinoma was negtive for CK7, CK5/6 and p63, it was positive for pan-CK. DNA-based next-generation sequencing revealed a nonsense mutation in SMARCA4, copy number loss in SMARCB1, and a nonsense mutation in ARID1A. Different molecular alterations of the switch/sucrose nonfermenting complex subunits in the present case may provide further insights into the functions of the switch/sucrose nonfermenting complex in the progression of tumors.
Identifiants
pubmed: 39418588
doi: 10.1097/PGP.0000000000001025
pii: 00004347-202411000-00013
doi:
Substances chimiques
SMARCB1 Protein
0
SMARCB1 protein, human
0
Transcription Factors
0
SMARCA4 protein, human
EC 3.6.1.-
DNA Helicases
EC 3.6.4.-
DNA-Binding Proteins
0
Nuclear Proteins
0
ARID1A protein, human
0
Codon, Nonsense
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
646-651Informations de copyright
Copyright © 2024 by the International Society of Gynecological Pathologists.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Mardinian K, Adashek JJ, Botta GP, et al. SMARCA4: implications of an altered chromatin-remodeling gene for cancer development and therapy. Mol Cancer Ther 2021;20:2341–51.
Kihara A, Amano Y, Matsubara D, et al. BRG1, INI1, and ARID1B Deficiency in endometrial carcinoma: a clinicopathologic and immunohistochemical analysis of a large series from a single institution. Am J Surg Pathol 2020;44:1712–24.
Karnezis AN, Hoang LN, Coatham M, et al. Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas. Mod Pathol 2016;29:302–14.
Agaimy A, Daum O, Markl B, et al. SWI/SNF complex-deficient undifferentiated/rhabdoid carcinomas of the gastrointestinal tract: a series of 13 cases highlighting mutually exclusive loss of SMARCA4 and SMARCA2 and frequent co-inactivation of SMARCB1 and SMARCA2. Am J Surg Pathol 2016;40:544–53.
Tessier-Cloutier B, Coatham M, Carey M, et al. SWI/SNF deficiency defines highly aggressive undifferentiated endometrial carcinoma. J Pathol Clin Res 2021;7:144–53.
Wong RW, Ng JHY, Han KC, et al. Cervical carcinomas with serous-like papillary and micropapillary components: illustrating the heterogeneity of primary cervical carcinomas. Mod Pathol 2021;34:207–21.
Sirák I, Laco J, Vošmiková H, et al. SMARCA4-deficient carcinoma of uterine cervix resembling SCCOHT—case report. Pathol Oncol Res 2021;27:1610003.
Korentzelos D, Elishaev E, Zhao C, et al. ARID1A, BRG1, and INI1 deficiency in undifferentiated and dedifferentiated endometrial carcinoma: a clinicopathologic, immunohistochemical, and next-generation sequencing analysis of a case series from a single institution. Hum Pathol 2022;130:65–78.
Selenica P, Alemar B, Matrai C, et al. Massively parallel sequencing analysis of 68 gastric-type cervical adenocarcinomas reveals mutations in cell cycle-related genes and potentially targetable mutations. Mod Pathol 2021;34:1213–25.
Lu S, Shi J, Zhang X, et al. Comprehensive genomic profiling and prognostic analysis of cervical gastric-type mucinous adenocarcinoma. Virchows Arch 2021;479:893–903.
Garg S, Nagaria TS, Clarke B, et al. Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing. Mod Pathol 2019;32:1823–33.
Jung H, Bae GE, Kim HM, et al. Clinicopathological and molecular differences between gastric-type mucinous carcinoma and usual-type endocervical adenocarcinoma of the uterine cervix. Cancer Genomics Proteomics 2020;17:627–41.
Agaimy A. The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity. Adv Anat Pathol 2014;21:394–410.
Stewart CJ, Crook ML. SWI/SNF complex deficiency and mismatch repair protein expression in undifferentiated and dedifferentiated endometrial carcinoma. Pathology 2015;47:439–45.
Gupta S, Noona SW, Pambuccian SE, et al. Malignant undifferentiated and rhabdoid tumors of the gastroesophageal junction and esophagus with SMARCA4 loss: a case series. Hum Pathol 2023;134:56–65.
Ng JKM, Chan JYK, Li JJX, et al. SMARCB1 (INI1)-deficient sinonasal carcinoma with yolk sac differentiation showing co-loss of smarca4 immunostaining—a case report and literature review. Head Neck Pathol 2022;16:934–41.
Rao Q, Xia QY, Shen Q, et al. Coexistent loss of INI1 and BRG1 expression in a rhabdoid renal cell carcinoma (RCC): implications for a possible role of SWI/SNF complex in the pathogenesis of RCC. Int J Clin Exp Pathol 2014;7:1782–7.
Wanior M, Krämer A, Knapp S, et al. Exploiting vulnerabilities of SWI/SNF chromatin remodelling complexes for cancer therapy. Oncogene 2021;40:3637–54.
Jelinic P, Ricca J, Van Oudenhove E, et al. Immune-active microenvironment in small cell carcinoma of the ovary, hypercalcemic type: rationale for immune checkpoint blockade. J Natl Cancer Inst 2018;110:787–90.