Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

Nature Reviews Clinical Oncology

Volumn 6, Issue 5, 2009, Pages 295-299

  Jeans, Alexander F ^a   Frayling, Ian ^b   Jasani, Bharat ^c   Side, Lucy ^d   Blesing, Claire ^d   Ansorge, Olaf ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CD56 ANTIGEN; GLIAL FIBRILLARY ACIDIC PROTEIN; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P53;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CRANIOTOMY; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; HEADACHE; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; MISMATCH REPAIR; NAUSEA AND VOMITING; NEUROECTODERM TUMOR; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECTUM CARCINOMA; COLORECTAL TUMOR; DNA SEQUENCE; FATALITY; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RADIOGRAPHY;

ADULT; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEUROECTODERMAL TUMORS, PRIMITIVE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 67651206070     PISSN: 17594774     EISSN: 17594782     Source Type: Journal    
DOI: 10.1038/nrclinonc.2009.35     Document Type: Article

References (14)

1. Desai, D. C. et al. Recurrent germline mutation in MsH2 arises frequently de novo. J. Med. Genet. 37, 646-652 (2000).
2. Peltomäki, P. Lynch syndrome genes. Fam. Cancer 4, 227-232 (2005).
3. Geary, J. et al. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam. Cancer 7, 163-172 (2008).
4. Scott, R. H. et al. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat. Clin. Pract. Oncol. 4, 130-134 (2007).
5. De Vos, M. et al. PMS2 mutations in childhood cancer. J. Natl Cancer Inst. 98, 358-361 (2006).
6. Burger, P. C. Supratentorial primitive neuroectodermal tumor (sPNET). Brain Pathol. 16, 86 (2006).
7. [No authors listed.] WHO Classification of Tumours of the Central Nervous System (eds Louis, d. N., Ohgaki, H., Wiestler, O. d. & cavenee, W. K.) (IaRc, Lyon, 2007).
8. Kraus, J. A., Felsberg, J., Tonn, J. C., Reifenberger, G. & Pietsch, T. Molecular genetic analysis of the TP53, PTEN, CDKN2A, EGFR, CDK4 and MDM2 tumour-associated genes in supratentorial primitive neuroectodermal tumours and glioblastomas of childhood. Neuropathol. Appl. Neurobiol. 28, 325-333 (2002).
9. Leung, S. Y. et al. Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation. Oncogene 19, 4079-4083 (2000).
10. Umar, A. et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl Cancer Inst. 96, 261-268 (2004).
11. Hampel, H. et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med. 352, 1851-1860 (2005).
12. Kim, D. G. et al. Supratentorial primitive neuroectodermal tumors in adults. J. Neurooncol. 60, 43-52 (2002).
13. Merlo, A., Rochlitz, C. & Scott, R. Survival of patients with Turcot's syndrome and glioblastoma. N. Engl. J. Med. 334, 736-737 (1996).
14. Barwell, J. et al. Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics. J. Med. Genet. 44, 516-520 (2007). Management. debulking of the cerebral tumor, craniospinal axis radiotherapy, and genetic counseling of family.