Publication/Presentation Date

12-3-2020

Abstract

Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in increased predilection to develop various malignancies. Osteosarcomas and skin cancers are typically associated with this syndrome. We present a rare case of signet-ring cell gastric adenocarcinoma in a patient with RTS.

Volume

12

Issue

12

First Page

11865

Last Page

11865

ISSN

2168-8184

Disciplines

Medicine and Health Sciences

PubMedID

33409099

Department(s)

Department of Medicine, Hematology-Medical Oncology Division

Document Type

Article

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