SMARCB1/INI1 inactivation in renal medullary carcinoma

被引：90

作者：

Calderaro, Julien ^{[1
]}

Moroch, Julien ^{[1
]}

Pierron, Gaelle ^{[2
]}

Pedeutour, Florence ^{[3
,4
]}

Grison, Camille ^{[2
]}

Maille, Pascale ^{[1
]}

Soyeux, Pascale ^{[5
,6
]}

de la Taille, Alexandre ^{[5
,6
,7
]}

Couturier, Jerome ^{[2
]}

Vieillefond, Annick ^{[8
]}

Rousselet, Marie Christine ^{[9
]}

Delattre, Olivier ^{[2
]}

Allory, Yves ^{[1
,5
,6
]}

机构：

[1] Hop H Mondor A Chenevier, AP HP, Dept Pathol, Creteil, France

[2] Inst Curie, Unite Cytogenet & Genet Somat, Paris, France

[3] Univ Nice Sophia Antipolis, Unite Genet Tumeurs Solides, Nice, France

[4] Ctr Hosp Univ Nice, Nice, France

[5] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France

[6] Univ Paris Est, Fac Med, Creteil, France

[7] Hop H Mondor A Chenevier, AP HP, Serv Urol, Creteil, France

[8] Hop Cochin, AP HP, Dept Pathol, F-75674 Paris, France

[9] Ctr Hosp Univ, Dept Pathol Cellulaire & Tissulaire, Angers, France

来源：

HISTOPATHOLOGY | 2012年 / 61卷 / 03期

关键词：

collecting duct renal cell carcinoma; cyclin D1; INI1; renal medullary carcinoma; rhabdoid; sickle cell disease; COLLECTING DUCT CARCINOMA; RHABDOID TUMORS; GENE; HSNF5/INI1; MUTATIONS; CANCER; EXPRESSION; THERAPY; LEADS;

D O I：

10.1111/j.1365-2559.2012.04228.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Aims: Renal medullary carcinoma (RMC), a rare and highly aggressive tumour which occurs in patients with sickle-cell disease, shares many clinicopathological features with collecting duct carcinoma (CDC). The molecular mechanisms underlying RMC and CDC are mainly unknown, and there is ongoing debate about their status as distinct entities. Loss of expression of SMARCB1/INI1, a chromatin remodelling regulator and repressor of cyclin D1 transcription, has been reported recently in RMC. The aim of our study was to investigate if such loss of expression is specific for RMC. SMARCB1/INI1 genetic alterations and cyclin D1 expression were also studied. Methods and results: Using immunochemistry, neoplastic cells showed complete loss of SMARCB1/INI1 expression in all six cases of RMC but in only one of 22 cases of CDC. In two RMC cases investigated, comparative genomic hybridization demonstrated complete loss of one SMARCB1/INI1 allele, with no other genomic imbalances, and no mutations were found on the remaining allele. Cyclin D1 was expressed in all RMCs, suggesting that SMARCB1/INI1 inactivation may result in increased cyclin D1 transcription. Conclusions: The specific SMARCB1/INI1 inactivation observed in RMCs suggests that RMC and CDC are different entities.

引用

页码：428 / 435

页数：8

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