Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome

Abstract

In recent years, hereditary cancer syndromes have developed greater interest in the scientific community. Two such syndromes, rhabdoid tumor syndrome and pleuropulmonary blastoma (DICER1) syndrome, have appeared increasingly in the literature. This review will discuss these two syndromes in terms of clinical parameters, associated tumors, and genetic associations.

Keywords

rhabdoid tumor predisposition syndrome - pleuropulmonary predisposition syndrome - DICER1 - SMARCB1 - hereditary cancer syndrome

• References

• 1 Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 1999; 65 (5) 1342-1348
• 2 Sredni ST, Tomita T. Rhabdoid tumor predisposition syndrome. Pediatr Dev Pathol 2015; 18 (1) 49-58
• 3 Schiffman JD, Geller JI, Mundt E, Means A, Means L, Means V. Update on pediatric cancer disposition syndromes. Pediatr Blood Cancer 2013; 60: 1247-1252
• 4 Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 2011; 56: 7-15
• 5 Kim KH, Roberts CWM. Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. Cancer Genet 2014; 207 (9) 365-372
• 6 Frühwald MC, Hasselblatt M, Wirth S , et al. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 2006; 47 (3) 273-278
• 7 Roberts CWM, Galusha SA, McMenamin ME, Fletcher CDM, Orkin SH. Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc Natl Acad Sci U S A 2000; 97 (25) 13796-13800
• 8 Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 2008; 29 (2) 227-231
• 9 Manivel JC, Priest JR, Watterson J , et al. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer 1988; 62 (8) 1516-1526
• 10 Delahunt B, Thomson KJ, Ferguson AF, Neale TJ, Meffan PJ, Nacey JN. Familial cystic nephroma and pleuropulmonary blastoma. Cancer 1993; 71 (4) 1338-1342
• 11 Bouron-Dal Soglio D, Harvey I, Yazbeck S, Rypens F, Oligny LL, Fournet J-C. An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association. Pediatr Dev Pathol 2006; 9 (1) 61-64
• 12 Sciot R, Dal Cin P, Brock P , et al. Pleuropulmonary blastoma (pulmonary blastoma of childhood): genetic link with other embryonal malignancies?. Histopathology 1994; 24 (6) 559-563
• 13 Hong B, Chen Z, Coffin CM , et al. Molecular cytogenetic analysis of a pleuropulmonary blastoma. Cancer Genet Cytogenet 2003; 142 (1) 65-69
• 14 de Krijger RR, Claessen SMH, van der Ham F , et al. Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. Mod Pathol 2007; 20 (11) 1191-1199
• 15 Hill DA, Ivanovich J, Priest JR , et al. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009; 325 (5943) 965
• 16 Schultz KA, Pacheco MC, Yang J , et al. Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. Gynecol Oncol 2011; 122 (2) 246-250
• 17 Schultz KA, Yang J, Doros L , et al. DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathol Case Rev 2014; 19 (2) 90-100
• 18 Slade I, Bacchelli C, Davies H , et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 2011; 48 (4) 273-278