Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome

被引：0

作者：

Ali, Zeeshan ^{[1
]}

Manaktala, Pritika S. ^{[2
]}

Sarkisian, Saro ^{[1
]}

Rizvi, Muhammad ^{[1
]}

机构：

[1] Lehigh Valley Canc Inst, Hematol & Oncol, Allentown, PA 18103 USA

[2] Canton Med Educ Fdn, Internal Med, Canton, OH USA

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2020年 / 12卷 / 12期

关键词：

recql4; gene; gastric adenocarcinoma; rothmund-thomson syndrome; poikiloderma;

D O I：

10.7759/cureus.11865

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：5

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