SWI/SNF-deficient neoplasms of the genitourinary tract

Sirohi, Deepika; Ohe, Chisato; Smith, Steven C.; Amin, Mahul B.

doi:10.1053/j.semdp.2021.03.007

Cited by 7 publications

(2 citation statements)

References 92 publications

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“…SMARCB1 has been suggested to be located in a hotspot region for de novo mutations susceptible to hypoxic stress mediated by peculiar medullary microvascular physiology (13). Given the overlapping features between RMC and RCCU-MP, Sirohi et al recently suggested that a genetic predisposition unrelated to hemoglobinopathies might lead to SMARCB1 abnormalities mediated by the same vascular mechanisms (14). Although interesting, this hypothesis needs further validation.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma

et al. 2022

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Renal medullary carcinoma (RMC) is a rare entity with poor prognosis bearing inactivating genomic alterations in SMARCB1/INI1 resulting in the loss of expression of INI1 and occurring in young patients with sickle cell trait or sickle cell disease. Recently, rare examples with histological characteristics of RMC have been described in older patients without hemoglobinopathies and provisionally termed “Renal cell carcinoma unclassified with medullary phenotype” (RCCU-MP). Fluorescence in situ Hybridization (FISH) can detect alterations in SMARCB1/INI1 consisting mostly in inactivating translocation of one allele and deletion of the second. To date, only seven further cases of RCCU-MP have been described in the literature. Here we report the second Italian case of RCCU-MP, a 62-year-old man presenting with persistent dull back pain and incidentally discovering a 13 cm mass in the right kidney. The nomenclature of this entity is still debated and might be updated as a variant of medullary carcinoma in the upcoming WHO classification. In the meantime, we encourage awareness of these extraordinarily rare neoplasms with poor outcomes.

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Section: Discussionmentioning

confidence: 99%

Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma

et al. 2022

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“…Mutations of SWI/SNF complex genes are seen in 64% of urothelial carcinomas, of which mutations in ARID1A are the most frequent, occurring in 13-38% of cases [113,114]. Loss of ARID1A expression was seen in 4 of 14 cases of undifferentiated/rhabdoid urothelial carcinoma in a case series [115].…”

Section: Arid1a In Urothelial Carcinomamentioning

confidence: 95%

The Role of the AT-Rich Interaction Domain 1A Gene (ARID1A) in Human Carcinogenesis

Li,

Lee

2023

Genes

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The switch/sucrose non-fermentable (SWI/SNF) (SWI/SNF) complex uses energy from ATP hydrolysis to mobilise nucleosomes on chromatin. Components of SWI/SNF are mutated in 20% of all human cancers, of which mutations in AT-rich binding domain protein 1A (ARID1A) are the most common. ARID1A is mutated in nearly half of ovarian clear cell carcinoma and around one-third of endometrial and ovarian carcinomas of the endometrioid type. This review will examine in detail the molecular functions of ARID1A, including its role in cell cycle control, enhancer regulation, and the prevention of telomerase activity. ARID1A has key roles in the maintenance of genomic integrity, including DNA double-stranded break repair, DNA decatenation, integrity of the cohesin complex, and reduction in replication stress, and is also involved in mismatch repair. The role of ARID1A loss in the pathogenesis of some of the most common human cancers is discussed, with a particular emphasis on gynaecological cancers. Finally, several promising synthetic lethal strategies, which exploit the specific vulnerabilities of ARID1A-deficient cancer cells, are briefly mentioned.

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Papillary Renal Cell Carcinoma: A Review of Prospective Clinical Trials

Sirohi

2023

Curr. Treat. Options in Oncol.

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SWI/SNF-deficient neoplasms of the genitourinary tract

Cited by 7 publications

References 92 publications

Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma

Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma

The Role of the AT-Rich Interaction Domain 1A Gene (ARID1A) in Human Carcinogenesis

Papillary Renal Cell Carcinoma: A Review of Prospective Clinical Trials

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