Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies

Pediatric Blood and Cancer

Volumn 60, Issue 11, 2013, Pages

  Walter, Andrew W ^a,b   Ennis, Sara ^b   Best, Hunter ^c,d   Vaughn, Cecily P ^d   Swensen, Jeffrey J ^c,d   Openshaw, Amanda ^e   Gripp, Karen W ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^e ARUP LABORATORIES   (United States)

Author keywords

Adenocarcinoma; Burkitt lymphoma; Constitutional mismatch repair; Glioblastoma multiforme; Lynch syndrome

Indexed keywords

CYCLOPHOSPHAMIDE; DOXORUBICIN; METHOTREXATE; MISMATCH REPAIR PROTEIN PMS2; PREDNISONE; RITUXIMAB; VINCRISTINE;

ABDOMINAL PAIN; ADOLESCENT; ARTICLE; BLOODY DIARRHEA; BURKITT LYMPHOMA; CAFE AU LAIT SPOT; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER SURGERY; CANCER SUSCEPTIBILITY; CASE REPORT; COLON ADENOCARCINOMA; COLON POLYP; COLONOSCOPY; COMPUTER ASSISTED TOMOGRAPHY; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY; DETERIORATION; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE DURATION; DYSPLASIA; EXTERNAL BEAM RADIOTHERAPY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GLIOBLASTOMA; HEADACHE; HOMOZYGOSITY; HUMAN; ILEOSTOMY; LAPAROSCOPY; MULTIMODALITY CANCER THERAPY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECTUM RESECTION; TOTAL COLON RESECTION; VOMITING; WEIGHT REDUCTION;

ADENOCARCINOMA; BURKITT LYMPHOMA; CONSTITUTIONAL MISMATCH REPAIR; GLIOBLASTOMA MULTIFORME; LYNCH SYNDROME;

ADENOCARCINOMA; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; BRAIN NEOPLASMS; BURKITT LYMPHOMA; COLONIC NEOPLASMS; COLORECTAL NEOPLASMS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GLIOBLASTOMA; HUMANS; MUTATION; NEOPLASMS, MULTIPLE PRIMARY; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE;

EID: 84883814382     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24613     Document Type: Article

References (11)

1. Wimmer K, Kratz C. Constitutional mismatch repair-deficiency syndrome. Haematologica 2010; 95:699-701.
2. Felton KEA, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair. Clin Genet 2007; 71:483-498.
3. Yeung JT, Pollack IF, Shah S, et al. Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1. Pediatr Blood Cancer 2013; 60:137-139.
4. Ripperger T, Beger C, Rahner N, et al. Constitutional mismatch repair deficiency and childhood leukemia/lymphoma-report on a novel biallelic MSH6 mutation. Haematologica 2010; 95:841-844.
5. Kruger S, Kinzel M, Walldorf C, et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Euro J Human Gen 2008; 16:62-72.
6. DeVos M, Hayward BE, Charlton R, et al. PMS2 mutations in childhood cancer. J Natl Cancer Inst 2006; 98:358-361.
7. Ilencikova D, Sejnova D, Jindrova J, et al. High-grade brain tumors in siblings with biallelic MSH6 mutations. Pediatr Blood Cancer 2011; 57:1067-1070.
8. Tan TY, Orme LM, Lynch E, et al. Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. J Pediatr Hematol Oncol 2008; 30:254-257.
9. Durno CA, Aronson M, Tabori U, et al. Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Pediatr Blood Cancer 2012; 59:652-656.
10. Stupp R, Mason WP, van den Bent MJ, et al. Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. N Engl J Med 2005; 10:987-996.
11. Pollack IF, Hamilton RL, Sobol RW, et al. Mismatch repair deficiency is an uncommon mechanism of alkylator resistance in pediatric malignant gliomas: A report from the Children's Oncology Group. Pediatr Blood Cancer 2010; 55:1066-1071.