SMARCB1/INI1 inactivation in renal medullary carcinoma

Histopathology

Volumn 61, Issue 3, 2012, Pages 428-435

  Calderaro, Julien ^a   Moroch, Julien ^a   Pierron, Gaelle ^b   Pedeutour, Florence ^c   Grison, Camille ^b   Maillé, Pascale ^a   Soyeux, Pascale ^d,e   de la Taille, Alexandre ^a,d,e   Couturier, Jérome ^b   Vieillefond, Annick ^f   Rousselet, Marie Christine ^g   Delattre, Olivier ^b   Allory, Yves ^a,d,e  

^a HENRI MONDOR HOSPITAL   (France)

^b INSTITUT CURIE   (France)

^c UNIVERSITÉ CÔTE D'AZUR   (France)

^d INSERM U955   (France)

^e FACULTÉ DE MÉDECINE   (France)

^f Hôpital Cochin ^*  (France)

^g ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

Collecting duct renal cell carcinoma; Cyclin D1; INI1; Renal medullary carcinoma; Rhabdoid; Sickle cell disease

Indexed keywords

CYCLIN D1; INTEGRASE; INTEGRASE INTERACTOR 1; REGULATOR PROTEIN; SMARCB1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; ENZYME INACTIVATION; FEMALE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CARCINOMA; KIDNEY MEDULLARY CARCINOMA; MALE; MEDULLARY CARCINOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, DUCTAL; CARCINOMA, MEDULLARY; CARCINOMA, RENAL CELL; CHROMOSOMAL PROTEINS, NON-HISTONE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; KIDNEY NEOPLASMS; MIDDLE AGED; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 84865374130     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2012.04228.x     Document Type: Article

References (32)

1. Eble JN, Sauter G, Epstein J, Sesterhenn I. Pathology and genetics of tumours of the urinary system and male genital organs. Lyon: International Agency for Research on Cancer, 2004.
2. Hakimi AA, Koi PT, Milhoua PM et al. Renal medullary carcinoma: the Bronx experience. Urology 2007; 70; 878-882.
3. Srigley JR, Delahunt B. Uncommon and recently described renal carcinomas. Mod. Pathol. 2009; 22(Suppl. 2); S2-S23.
4. Cheng JX, Tretiakova M, Gong C et al. Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. Mod. Pathol. 2008; 21; 647-652.
5. Srigley JR, Eble JN. Collecting duct carcinoma of kidney. Semin. Diagn. Pathol. 1998; 15; 54-67.
6. Yip D, Steer C, al-Nawab M et al. Collecting duct carcinoma of the kidney associated with the sickle cell trait. Int. J. Clin. Pract. 2001; 55; 415-417.
7. Mariño-Enríquez A, Ou W, Weldon CB et al. ALK rearrangement in sickle cell trait-associated renal medullary carcinoma. Genes Chromosom. Cancer 2011; 50; 146-153.
8. Simpson L, He X, Pins M et al. Renal medullary carcinoma and ABL gene amplification. J. Urol. 2005; 173; 1883-1888.
9. Swartz MA, Karth J, Schneider DT et al. Renal medullary carcinoma: clinical, pathologic, immunohistochemical, and genetic analysis with pathogenetic implications. Urology 2002; 60; 1083-1089.
10. Roberts CWM, Biegel JA. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol. Ther. 2009; 8; 412-416.
11. Roberts CW, Galusha SA, McMenamin ME et al. Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc. Natl Acad. Sci. USA 2000; 97; 13796-13800.
12. Rousseau-Merck MF, Versteege I, Legrand I et al. hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors. Cancer Res. 1999; 59; 3152-3156.
13. Chai J, Charboneau AL, Betz BL et al. Loss of the hSNF5 gene concomitantly inactivates p21CIP/WAF1 and p16INK4a activity associated with replicative senescence in A204 rhabdoid tumor cells. Cancer Res. 2005; 65; 10192-10198.
14. Betz BL, Strobeck MW, Reisman DN et al. Re-expression of hSNF5/INI1/BAF47 in pediatric tumor cells leads to G1 arrest associated with induction of p16ink4a and activation of RB. Oncogene 2002; 21; 5193-5203.
15. Bourdeaut F, Fréneaux P, Thuille B et al. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J. Pathol. 2007; 211; 323-330.
16. Bourdeaut F, Dufour C, Delattre O. [Rhadboid tumours: hSNF/INI1 deficient cancers of early childhood with aggressive behaviour]. Bull. Cancer 2010; 97; 37-45.
17. Chbani L, Guillou L, Terrier P et al. Epithelioid sarcoma: a clinicopathologic and immunohistochemical analysis of 106 cases from the French Sarcoma Group. Am. J. Clin. Pathol. 2009; 131; 222-227.
18. Modena P, Lualdi E, Facchinetti F et al. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res. 2005; 65; 4012-4019.
19. Sévenet N, Lellouch-Tubiana A, Schofield D et al. Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum. Mol. Genet. 1999; 8; 2359-2368.
20. Versteege I, Sévenet N, Lange J et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998; 394; 203-206.
21. Bourdeaut F, Lequin D, Brugières L et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin. Cancer Res. 2011; 17; 31-38.
22. Sévenet N, Sheridan E, Amram D et al. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am. J. Hum. Genet. 1999; 65; 1342-1348.
23. Reisman D, Glaros S, Thompson EA. The SWI/SNF complex and cancer. Oncogene 2009; 28; 1653-1668.
24. Kohashi K, Izumi T, Oda Y et al. Infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Hum. Pathol. 2009; 40; 349-355.
25. Flucke U, Slootweg PJ, Mentzel T et al. Re: Infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor: direct evidence of mutational inactivation of SMARCB1/INI1 in epithelioid sarcoma. Hum. Pathol. 2009; 40; 1361-1362; author reply 1362-1364.
26. Watanabe IC, Billis A, Guimarães MS et al. Renal medullary carcinoma: report of seven cases from Brazil. Mod. Pathol. 2007; 20; 914-920.
27. Schaeffer EM, Guzzo TJ, Furge KA et al. Renal medullary carcinoma: molecular, pathological and clinical evidence for treatment with topoisomerase-inhibiting therapy. BJU Int. 2010; 106; 62-65.
28. Yang XJ, Sugimura J, Tretiakova MS et al. Gene expression profiling of renal medullary carcinoma: potential clinical relevance. Cancer 2004; 100; 976-985.
29. McKenna ES, Sansam CG, Cho Y et al. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol. Cell. Biol. 2008; 28; 6223-6233.
30. Melnick AM, Adelson K, Licht JD. The theoretical basis of transcriptional therapy of cancer: can it be put into practice? J. Clin. Oncol. 2005; 23; 3957-3970.
31. Bhalla KN. Epigenetic and chromatin modifiers as targeted therapy of hematologic malignancies. J. Clin. Oncol. 2005; 23; 3971-3993.
32. Furchert SE, Lanvers-Kaminsky C, Juürgens H et al. Inhibitors of histone deacetylases as potential therapeutic tools for high-risk embryonal tumors of the nervous system of childhood. Int. J. Cancer 2007; 120; 1787-1794.