Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old boy was admitted for a 4-month history of diarrhea and rectal bleeding. The patient had extensive café au lait spots, freckling, and Lisch nodules. He fulfilled the NF-1 diagnostic criteria. Colonoscopy showed numerous polyps and a colorectal mass lesion, of which a biopsy revealed adenocarcinoma, an uncommon pathology associated with NF-1. High microsatellite instability and homozygous mutation of PMS2 gene in tumor tissue and blood lymphocytes, respectively, confirmed the diagnosis of CMMRD. Unfortunately, because family history related to CMMRD was negative, the parents denied the diagnosis and refused the therapy, and the patient was lost to follow-up. CMMRD is a rare cancer predisposition syndrome with phenotypical features resembling NF-1. The disease may be suspected in the setting of NF-1 features and CRC, high-grade brain tumors, or hematologic malignancies. Lack of family history related to CMMRD may be a major obstacle to convincing parents of the presence of an inherited disease in their progeny.
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October 2015
Case Report|
October 01 2015
Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I
Nafiye Urganci, MD;
Nafiye Urganci, MD
aSisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and
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Dildar Bahar Genc, MD;
aSisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and
Address correspondence to Dildar Bahar Genc, Nurtepe Mah, Cesme Sok., Sadabat Park Eksioglu Evleri, A3, D:29, 34406 Kagithane, Istanbul, Turkey. E-mail: baharbeker@yahoo.com
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Gulsen Kose, MD;
Gulsen Kose, MD
aSisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and
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Zerrin Onal, MD;
Zerrin Onal, MD
bBakirkoy Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey
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Ozge Ozdemir Vidin, MD
Ozge Ozdemir Vidin, MD
aSisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and
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Address correspondence to Dildar Bahar Genc, Nurtepe Mah, Cesme Sok., Sadabat Park Eksioglu Evleri, A3, D:29, 34406 Kagithane, Istanbul, Turkey. E-mail: baharbeker@yahoo.com
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2015) 136 (4): e1047–e1050.
Article history
Accepted:
June 08 2015
Citation
Nafiye Urganci, Dildar Bahar Genc, Gulsen Kose, Zerrin Onal, Ozge Ozdemir Vidin; Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I. Pediatrics October 2015; 136 (4): e1047–e1050. 10.1542/peds.2015-1426
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