Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

Christian P Kratz (1) , Spring Holter (2) , Julia Etzler (3) , Melchior Lauten (1) , Aaron Pollett (2) , Charlotte M Niemeyer (1) , Steven Gallinger (2) , Katharina Wimmer (3)

1 Department of Pediatrics and Adolescent Medicine, University Freiburg, Freiburg
2 Familial Gastrointestinal Cancer Registry
3 Medizinische Universität Wien = Medical University of Vienna

Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterized by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumor spectrum of CMMR-D syndrome includes hematological neoplasias, brain tumors and Lynch syndrome associated tumors. Other tumor entities, such as neuroblastoma, Wilm's tumor, ovarian neuroectodermal tumor or infantile myofibromatosis have so far been found only in individual cases.

Mots clés: Diagnostics; Genetics; Molecular genetics; Cancer: colon; Paediatric oncology

Christian P Kratz, Spring Holter, Julia Etzler, Melchior Lauten, Aaron Pollett, et al.. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. Journal of Medical Genetics, 2009, 46 (6), pp.418. ⟨10.1136/jmg.2008.064212⟩. ⟨hal-00552674⟩