 |
Case Report
Congenital extracranial extrarenal rhabdoid tumor: A rare clinicopathologic entity and diagnostic challenge
1 MD, Pediatrician, Attending Physician, Division of Pediatric Hematology-Oncology, First Department of Pediatrics, University of Athens, Aghia Sophia Children’s Hospital, Athens, Greece
2 MD, PhD, Pediatrician, Attending Physician, Division of Pediatric Hematology-Oncology, First Department of Pediatrics, University of Athens, Aghia Sophia Children’s Hospital, Athens, Greece
3 MD, PhD, Radiologist, Director, Department of CT and MRI, Aghia Sophia Children’s Hospital, Athens, Greece
4 MD, PhD, Geneticist, Division of Pediatric Hematology-Oncology, First Department of Pediatrics, University of Athens, Aghia Sophia Children’s Hospital, Athens, Greece
5 MD, PhD, Pathologist, Head, Pathology Department, Aghia Sophia Children’s Hospital, Athens, Greece
6 MD, PhD, Professor of Pediatric Hematology Oncology, Head, Division of Pediatric Hematology-Oncology, First Department of Pediatrics, University of Athens, Aghia Sophia Children’s Hospital, Athens, Greece
Address correspondence to:
Kleoniki Roka
MD, PhD, 8 Levadias Str, Goudi 11527, Athens,
Greece
Message to Corresponding Author
Article ID: 100069Z10HT2020
Access full text article on other devices
Access PDF of article on other devices
How to cite this article
Tsipou H, Roka K, Gavra M, Glentis S, Stefanaki K, Kattamis A. Congenital extracranial extrarenal rhabdoid tumor: A rare clinicopathologic entity and diagnostic challenge. J Case Rep Images Oncology 2020;6:100069Z10HT2020.ABSTRACT
Introduction: Extrarenal extracranial rhabdoid tumor (EERT) is a rare tumor characterized by highly aggressive behavior. It is mainly observed in infants and young children.
Case Report: We report a case of a newborn female infant born with an extensive mass of her left arm at birth. Histological evaluation was consistent with malignant rhabdoid tumor (MRT) with loss of nuclear expression of INI-1/SMARCB1/BAF47 SMARCB1 protein, produced from SMARCB1 gene. Next generation sequencing (NGS) of genomic DNA of the infant revealed a germline de novo fusion c.141C>A (p. Tyr47*), which is pathogenic for rhabdoid tumor predisposition syndrome Type 1 (RTPS1). Despite early administration of chemotherapy, the infant succumbed due to progressive disease at two months of age.
Conclusion: Congenital EERT is a very rare, aggressive entity, with dismal prognosis especially when it develops in a patient with a cancer predisposition syndrome. Timely diagnosis and genetic evaluation are essential for proper management and genetic counseling.
Keywords: Congenital, Rhabdoid tumor, Rhabdoid predisposition syndrome, SMARCB1
SUPPORTING INFORMATION
Author Contributions
Haroula Tsipou - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Kleoniki Roka - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Maria Gavra - Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Stavros Glentis - Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Kalliopi Stefanaki - Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Antonis Kattamis - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2020 Haroula Tsipou et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
