Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

TY - JOUR

T1 - Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

AU - Bartelheim, Kerstin

AU - Sumerauer, David

AU - Behrends, Uta

AU - Kodetova, Daniela

AU - Kucera, Filip

AU - Leuschner, Ivo

AU - Neumayer, Petra

AU - Oyen, Florian

AU - Rübe, Christian

AU - Siebert, Reiner

AU - Schneppenheim, Reinhard

AU - Seeringer, Angela

AU - Vasovcak, Peter

AU - Frühwald, Michael C

N1 - Copyright © 2014 Elsevier Inc. All rights reserved.

PY - 2014/9/1

Y1 - 2014/9/1

N2 - Rhabdoid tumors are rare but highly aggressive malignancies of infancy and early childhood with a generally unfavorable prognosis. Despite a wide variety of anatomic locations rhabdoid tumors share mutational inactivation of the SWI/SNF (SWItch/Sucrose NonFermentable) core component gene SMARCB1 (also known as INI1, hSNF5 or BAF47) in chromosome 22. As this inactivation usually results in loss of SMARCB1 expression, detectable by an antibody against the SMARCB1 protein, the accurate diagnosis of a rhabdoid tumor may be more distinctly and frequently made. Several reports on rhabdoid tumors presenting in various anatomic sites outside the kidneys and CNS are on record. We report two cases of rhabdoid tumors originating in the heart (cardiac tissue), which were entered into the European Rhabdoid Registry (EU-RHAB). The first case presented with intracardial and -cranial lesions as well as malignant ascites, while the second patient demonstrated an isolated cardiac tumor. This induced a different therapeutic approach and subsequently different clinical course (death 7 weeks after diagnosis in patient 1). Patient 2 presented with a bifocal intracardial tumor without metastases and remains in complete remission for 46 months since diagnosis following multimodal therapy. The second case demonstrates that even in a potentially futile clinical situation early and accurate diagnosis followed by prompt and intensive multimodal therapy may offer prolonged survival, potential cure and improved quality of life.

AB - Rhabdoid tumors are rare but highly aggressive malignancies of infancy and early childhood with a generally unfavorable prognosis. Despite a wide variety of anatomic locations rhabdoid tumors share mutational inactivation of the SWI/SNF (SWItch/Sucrose NonFermentable) core component gene SMARCB1 (also known as INI1, hSNF5 or BAF47) in chromosome 22. As this inactivation usually results in loss of SMARCB1 expression, detectable by an antibody against the SMARCB1 protein, the accurate diagnosis of a rhabdoid tumor may be more distinctly and frequently made. Several reports on rhabdoid tumors presenting in various anatomic sites outside the kidneys and CNS are on record. We report two cases of rhabdoid tumors originating in the heart (cardiac tissue), which were entered into the European Rhabdoid Registry (EU-RHAB). The first case presented with intracardial and -cranial lesions as well as malignant ascites, while the second patient demonstrated an isolated cardiac tumor. This induced a different therapeutic approach and subsequently different clinical course (death 7 weeks after diagnosis in patient 1). Patient 2 presented with a bifocal intracardial tumor without metastases and remains in complete remission for 46 months since diagnosis following multimodal therapy. The second case demonstrates that even in a potentially futile clinical situation early and accurate diagnosis followed by prompt and intensive multimodal therapy may offer prolonged survival, potential cure and improved quality of life.

KW - Antineoplastic Agents

KW - Chromosomal Proteins, Non-Histone

KW - Combined Modality Therapy

KW - DNA-Binding Proteins

KW - Heart Neoplasms

KW - Humans

KW - Infant

KW - Male

KW - Mutation

KW - Neoplasm Metastasis

KW - Peripheral Blood Stem Cell Transplantation

KW - Registries

KW - Rhabdoid Tumor

KW - Transcription Factors

KW - Tumor Suppressor Proteins

U2 - 10.1016/j.cancergen.2014.04.005

DO - 10.1016/j.cancergen.2014.04.005

M3 - SCORING: Journal article

C2 - 24972932

VL - 207

SP - 379

EP - 383

JO - CANCER GENET-NY

JF - CANCER GENET-NY

SN - 2210-7762

IS - 9

ER -