A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency

A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists...

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Veröffentlicht in:ACG case reports journal 2017-03, Vol.4 (1), p.e34
Hauptverfasser: Rengifo-Cam, William, Jasperson, Kory, Garrido-Laguna, Ignacio, Colman, Howard, Scaife, Courtney, Samowitz, Wade, Samadder, N Jewel
Format: Artikel
Sprache:eng
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Case Report
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Zusammenfassung:Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.
ISSN:2326-3253
2326-3253
DOI:10.14309/crj.2017.34