title: An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
abstract: BACKGROUND
  Constitutional mismatch repair deficiency (CMMRD) syndrome is a disorder with recessive inheritance caused by biallelic mismatch repair gene mutations, in which mismatch repair defects are inherited from both parents. This syndrome is associated with multiple cancers occurring in childhood. The most common tumors observed with CMMRD include brain tumors, digestive tract tumors, and hematological malignancies. The aim of this study was to report new phenotypic expressions of CMMRD syndrome and add new insight to the existing knowledge about this disease. A review of the literature was conducted and recommendation for surveillance and follow-up in patients with CMMRD are proposed.
  
  
  METHODS
  We report for the first time in the literature, the case of a 22-year-old female patient who was diagnosed with CMMRD syndrome, with the development of 2 unusual tumors: an anaplastic ganglioglioma and an osteosarcoma. She presented initially with an anaplastic ganglioglioma and later developed several malignancies including colonic adenocarcinoma, osteosarcoma, and acute myeloid leukemia. The patient had an atypical course of her disease with development of the initial malignancy at an older age and a remarkably long survival period despite developing aggressive tumors.
  
  
  CONCLUSIONS
  Many aspects of this disease are still unknown. We identified a case of CMMRD in a patient presenting with an anaplastic ganglioglioma, who underwent successful surgical resection, chemotherapy, and radiotherapy and has had one of the longest survival periods known with this disease. This case broadens the tumor spectrum observed with CMMRD syndrome with anaplastic ganglioglioma and osteosarcoma as new phenotypic expressions of this genetic defect.
authors: *Department of Neurosurgery, Thomas Jefferson University and Jefferson Hospital for Neuroscience, Philadelphia, Pennsylvania; ‡Department of Neurosurgery, Sainte-Anne University Hospital, Paris, France; §Paris Descartes University, Paris, France; ¶Department of Neuropathology, Sainte-Anne Hospital, Paris, France; ‖Department of Pediatric Oncology, Gustave Roussy Institute, Villejuif, France; #Department of Medical Oncology, Gustave Roussy Institute, Villejuif, France; **Department of Radiotherapy, Gustave Roussy Institute, Villejuif, France; ‡‡Department of Hematology, Gustave Roussy Institute, Villejuif, France; §§Department of Pathology, Cochin Hospital, Paris, France; ¶¶Department of Gastroenterology, Gustave Roussy Institute, Villejuif, France; ‖‖Department of Pathology, Caen University Hospital, Caen, France.
authors: Badih
authors: B
authors: Daou
authors: Marc
authors: M
authors: Zanello
authors: Pascale
authors: P
authors: Varlet
authors: Laurence
authors: L
authors: Brugieres
authors: Pascal
authors: P
authors: Jabbour
authors: Olivier
authors: O
authors: Caron
authors: Noémie
authors: N
authors: Lavoine
authors: Frederic
authors: F
authors: Dhermain
authors: Christophe
authors: C
authors: Willekens
authors: Frederic
authors: F
authors: Beuvon
authors: David
authors: D
authors: Malka
authors: Emmanuèle
authors: E
authors: Lechapt-Zalcmann
authors: Georges
authors: G
authors: Abi Lahoud
mesh_terms: D000230:Adenocarcinoma / Q000209:etiology; D001859:Bone Neoplasms / Q000209:etiology*; D001932:Brain Neoplasms / Q000150:complications / Q000209:etiology*; D003110:Colonic Neoplasms / Q000209:etiology; D015179:Colorectal Neoplasms / Q000150:complications*; D005260:Female; D018303:Ganglioglioma / Q000209:etiology*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000209:etiology; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications*; D009456:Neurofibromatosis 1 / Q000209:etiology; D012516:Osteosarcoma / Q000209:etiology*; D055815:Young Adult