Jasperson KW, Samowitz WS, Burt RW. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP). Here we describe two sisters with CMMR-D syndrome due to germline bi-allelic MSH6 mutations. Both sisters are without cancer, are older than typical for this condition, have NF1 associated features and a colonic phenotype suspicious for an attenuated polyposis syndrome. This report highlights the role of skin examinations in leading to an underlying genetic diagnosis in individuals with colonic adenomatous polyposis, but without mutations associated with AFAP or MAP.
"(mainly hematological malignancies and/or brain tumors) and very early onset LS-associated tumors      . 74% of cases show signs of neurofibromatosis type 1 (NF1), mainly café-au-lait spots (CLS) . "
"Turcot syndrome (OMIM: no. 276300, mismatch repair cancer syndrome) is an autosomal recessive disorder  characterized by concurrent presentation of a primary tumor of the central nervous system and adenomas or colorectal carcinoma , during the first or second decades of life, with a spectrum of clinical features such as " café-au-lait " spots, axillary freckling, and hyperpigmented spots . It is caused by homozygous or heterozygous mutations in the mismatch repair system (MMR) genes: MLH1, MSH2, MSH6, or PMS2, locus on 3p22.2, 2p21, 2p16.3, and 7p 22.1, respectively . "
[Show abstract][Hide abstract] ABSTRACT: Turcot syndrome is an autosomal recessive disorder
clinically characterized by the occurrence of primary tumors of the central
nervous system and adenomatous colonic polyps during the first or second
decades of life, with a spectrum of clinical features such as “café-au-lait”
spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and
in Colombia remains unknown. We present the case of a 20-year-old male with a clinical
presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps.
The molecular genetics study revealed a mutation in KrasAsp12 gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps. Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment. A literature review complements this report.
Case Reports in Oncological Medicine 12/2012; 2012:356384. DOI:10.1155/2012/356384
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