Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 206-211

  Prochazkova, Kamila ^a   Pavlikova, Kristyna ^a   Minarik, Marek ^b   Sumerauer, David ^a   Kodet, Roman ^a   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b Laboratory for Molecular Genetics and Oncology   (Czech Republic)

Author keywords

Allelic imbalance; Cancer predisposition; De novo mutation; Li Fraumeni syndrome; Somatic mosaicism; TP53 mutation

Indexed keywords

CISPLATIN; DOXORUBICIN; METHOTREXATE; PROTEIN P53;

ADJUVANT THERAPY; ANAMNESIS; ARTICLE; CANCER CHEMOTHERAPY; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DNA SEQUENCE; DRUG MEGADOSE; ERYTHROCYTE SEDIMENTATION RATE; FAMILIAL CANCER; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPHOCYTE; MOSAICISM; ORTHOPEDIC SURGERY; OSTEOSARCOMA; PRIORITY JOURNAL; SCHOOL CHILD; SOMATIC MUTATION; URINE SEDIMENT;

ALLELIC IMBALANCE; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LI-FRAUMENI SYNDROME; MOSAICISM; MUTATION, MISSENSE; PEDIGREE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 59849119348     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32574     Document Type: Article

References (25)

1. Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, Propping P, Friedl W. 2007. Somatic APC mosaicism: A frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 28:985-992.
2. Bernards A, Gusella JF. 1994. The importance of genetic mosaicism in human disease. N Engl J Med 331:1447-1449.
3. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D, Craft AV, Eden O, Evans DGR, Thompson E, Mann JR, Martin J, Mitchell ELD, Santibanez-Koref MF. 1994. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298-1304.
4. Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR. 1996. Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 58:484-490.
5. Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M. 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 125:463-466.
6. Eeles RA. 1995. Germline mutations in the TP53 gene. Cancer Surv 25:101-124.
7. Evans DG, Watson C, King A, Wallace AJ, Baser ME. 2005. Multiple meningiomas: Differential involvement of the NF2 gene in children and adults. J Med Genet 42:45-48.
8. Fan X, Furnari FB, Cavenee WK, Castresana JS. 2001. Non-isotopic silver-stained SSCP is more sensitive than automated direct sequencing for the detection of PTEN mutations in a mixture of DNA extracted from normal and tumor cells. Int J Oncol 18:1023-1026.
9. Frebourg T, Abel A, Bonaiti-Pellie C, Brugieres L, Berthet P, Bressac-de Paillerets B, Chevrier A, Chompret A, Cohen-Haguenauer O, Delattre O, Feingold J, Feunteun J, Frappaz D, Fricker JP, Gesta P, Jonveaux P, Kalifa C, Lasset C, Leheup B, Limacher JM, Longy M, Nogues C, Oppenheim D, Sommelet D, Soubrier F, Stoll C, Stoppa-Lyonnet D, Tristant H. 2001. Li-Fraumeni syndrome: Update, new data and guidelines for clinical management. Bull Cancer 88:581-587.
10. Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A. 2006. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 116:2201-2207.
11. Hamelin R, Jego N, Laurent-Puig P, Vidaud M, Thomas G. 1993. Efficient screening of p53 mutations by denaturing gradient gel electrophoresis in colorectal tumors. Oncogene 8:2213-2220.
12. Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. 2008. Somatic APC mosaicism: An underestimated cause of polyposis coli. Gut 57:71-76.
13. Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C. 2001. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43-47.
14. Kluwe L, Mautner VF. 1998. Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet 7:2051-2055.
15. Kovar H, Auinger A, Jug G, Muller T, Pillwein K. 1992. p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. Oncogene 7:2169-2173.
16. Krutilkova V, Trkova M, Fleitz J, Gregor V, Novotna K, Krepelova A, Sumerauer D, Kodet R, Siruckova S, Plevova P, Bendova S, Hedvicakova P, Foreman NK, Sedlacek Z. 2005. Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. Eur J Cancer 41:1597-1603.
17. Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X. 1994. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407.
18. Li FP, Fraumeni JF Jr. 1969. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71:747-752.
19. Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW. 1988. A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362.
20. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH. 1990. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238.
21. Minarik M, Minarikova L, Bjorheim J, Ekstrom PO. 2003. Cycling gradient capillary electrophoresis: A low-cost tool for high-throughput analysis of genetic variations. Electrophoresis 24:1716-1722.
22. Novotna K, Trkova M, Pazdro A, Smejkal M, Soukupova A, Kodetova D, Smejkal P, Sedlacek Z. 2006. TP53 gene mutations are rare in nondysplastic Barrett's esophagus. Dig Dis Sci 51:110-113.
23. Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, Fuchs E. 1994. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 331:1408-1415.
24. Sedlacek Z, Kodet R, Kriz V, Seemanova E, Vodvarka P, Wilgenbus P, Mares J, Poustka A, Goetz P. 1998a. Two Li-Fraumeni syndrome families with novel germline p53 mutations: Loss of the wild-type p53 allele in only 50% of tumours. Br J Cancer 77:1034-1039.
25. Sedlacek Z, Kodet R, Poustka A, Goetz P. 1998b. A database of germline p53 mutations in cancer-prone families. Nucleic Acids Res 26:214-215.