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.
Published In/Presented At
Ali, Z., Manaktala, P. S., Sarkisian, S., & Rizvi, M. (2020). Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome. Cureus, 12(12), e11865. https://doi.org/10.7759/cureus.11865
Medicine and Health Sciences
Department of Medicine, Hematology-Medical Oncology Division