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Constitutional mismatch repair deficiency (CMMR‐D) due to biallelic germline mutations in one of four mismatch repair genes causes a childhood cancer syndrome characterized by a broad tumor spectrum including hematological malignancies, and brain and Lynch syndrome‐associated tumors. Herein, we report three children who had in addition to CMMR‐D‐associated malignancies multiple pilomatricomas. These...
Plexiform neurofibromas are a major cause of morbidity in individuals with neurofibromatosis type 1 (NF1). Sporadically, these tumors appear as an isolated feature without other signs of NF1. A role for the NF1 gene in solitary plexiform neurofibromas has never been described. In this study, we report a 13‐year‐old boy who was diagnosed with a plexiform neurofibroma, without other NF1 diagnostic criteria...
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