2016
DOI: 10.1016/j.eururo.2015.09.027
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Balanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in Renal Medullary Carcinomas

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Cited by 101 publications
(99 citation statements)
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“…This finding is in concordance with a previously published report of 5 cases of RMC, in which 4 tumors harbored translocations, and a fifth tumor showed biallelic loss. 19 Although we did not perform further analysis to identify the translocation partner, in that study, four different translocation partners were identified. Together, this suggests that these genetic alterations in SMARCB1 induce loss of function as opposed to a de novo function.…”
Section: Discussionmentioning
confidence: 96%
“…This finding is in concordance with a previously published report of 5 cases of RMC, in which 4 tumors harbored translocations, and a fifth tumor showed biallelic loss. 19 Although we did not perform further analysis to identify the translocation partner, in that study, four different translocation partners were identified. Together, this suggests that these genetic alterations in SMARCB1 induce loss of function as opposed to a de novo function.…”
Section: Discussionmentioning
confidence: 96%
“…Collecting duct carcinoma (CDC) and renal medullary carcinoma (RMC) together represent a category of highly aggressive tumors typically seen in younger patients and those with genetic predispositions [60, 61]. Several investigators have identified alterations in the tumor suppressor gene SMARCB1 to be frequently associated with RMC tumors, with sensitivity ranging from 30% to 100% [60, 62, 63]. This finding has been suggested as a specific possible molecular difference between RMC and CDC, although the number of cases studied has been small [64].…”
Section: Introductionmentioning
confidence: 99%
“…3 Renal medullary carcinoma is a rare, aggressive RCC subtype, which has many features that overlap with CDC, but it occurs in younger patients with hemoglobinopathies (most commonly sickle cell trait), and these tumors often have an abundant associated neutrophil-predominant inflammatory infiltrate. 64,65 Renal medullary carcinoma is strongly associated with biallelic inactivation of SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily b, member 1 (SMARCB1; also known as INI-1), 66 and loss of nuclear INI-1 expression and corresponding nuclear overexpression of POU class 5 homeobox 1 (POU5F1; also known as OCT3/4) is characteristic of RMC. 62,64,67,68 Interestingly, similar to type 2 PRCC, recent molecular profiling indicates that CDC likely represents a molecularly heterogeneous group of tumors with overlapping morphologic features, and a subset of cases shows alterations in FH or SMARCB1/INI-1.…”
Section: Rcc With Papillary Architecturementioning
confidence: 99%