Abstract | BACKGROUND AND IMPORTANCE: 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. CLINICAL PRESENTATION: CONCLUSION: 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.
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Authors | Badih Daou, Marc Zanello, Pascale Varlet, Laurence Brugieres, Pascal Jabbour, Olivier Caron, Noémie Lavoine, Frederic Dhermain, Christophe Willekens, Frederic Beuvon, David Malka, Emmanuèle Lechapt-Zalcmann, Georges Abi Lahoud |
Journal | Neurosurgery
(Neurosurgery)
Vol. 77
Issue 1
Pg. E145-52; discussion E152
(Jul 2015)
ISSN: 1524-4040 [Electronic] United States |
PMID | 25850602
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adenocarcinoma
(etiology)
- Bone Neoplasms
(etiology)
- Brain Neoplasms
(complications, etiology)
- Colonic Neoplasms
(etiology)
- Colorectal Neoplasms
(complications)
- Female
- Ganglioglioma
(etiology)
- Humans
- Leukemia, Myeloid, Acute
(etiology)
- Neoplastic Syndromes, Hereditary
(complications)
- Neurofibromatosis 1
(etiology)
- Osteosarcoma
(etiology)
- Young Adult
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