Table 3.

Hereditary Disorders in the Differential Diagnosis of Rhabdoid Tumor Predisposition Syndrome

Gene(s)DisorderMOIKey FeaturesAdditional Features / Comment
TP53 Li-Fraumeni syndrome ADCancer predisposition syndrome assoc w/high risk for diverse spectrum of childhood- & adult-onset malignanciesSMARCB1- or SMARCA4-deficient malignant brain tumors w/complex copy number alterations & germline TP53 variants 1
ANKRD11 (or 16q24.3 deletion incl ANKRD11) KBG syndrome ADMacrodontia (esp of upper central incisors), characteristic facial features, short stature, DD/ID, & behavioral issuesParatesticular rhabdoid tumor 2
BAP1 BAP1 tumor predisposition syndrome AD↑ risk for a number of cancers & a specific skin lesion, BAP1-inactivated melanocytic tumorMeningioma, particularly a high-grade rhabdoid subtype, may be assoc w/BAP1-TPDS. 3
DICER1 DICER1 tumor predisposition AD↑ risk for PPB, pulmonary cysts, thyroid gland neoplasia, ovarian tumors incl sex cord-stromal tumors (e.g., embryonal rhabdomyosarcoma), & cystic nephromaERMS of the cervix most commonly occurs in pubertal & postpubertal adolescent girls & young women.

AD = autosomal dominant; BAP1-TPDS = BAP1 tumor predisposition syndrome; DD/ID = developmental delay / intellectual disability; ERMS = embryonal rhabdomyosarcoma; MOI = mode of inheritance; PPB = pleuropulmonary blastoma

1.
2.
3.

From: Rhabdoid Tumor Predisposition Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.