Wilms tumor associated with Hirschsprung disease

Journal of Pediatric Hematology/Oncology

Volumn 29, Issue 12, 2007, Pages 858-859

  Blatt, Julie ^a   Nakayama, Don ^a,b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b MERCER UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital malformations; Hirschsprung disease; MEN; Wilms tumor

Indexed keywords

DACTINOMYCIN; PROTEIN RET; VINCRISTINE;

ARTICLE; BARIUM ENEMA; CANCER COMBINATION CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER SURGERY; CASE REPORT; DISEASE ASSOCIATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE BIOPSY; KIDNEY DEVELOPMENT; MALE; NEPHROBLASTOMA; ONCOGENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIPPLE SYNDROME;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CHORISTOMA; DNA; EXONS; HIRSCHSPRUNG DISEASE; HUMANS; KIDNEY NEOPLASMS; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; PROTO-ONCOGENE PROTEINS C-RET; TREATMENT OUTCOME; WILMS TUMOR;

EID: 37349103085     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e31815a0589     Document Type: Article

References (17)

1. Eng C. The RET protooncogene in multiple endocrine neoplasia type 2 and Hirschprung's disease. N Engl J Med. 1996;335:943-951.
2. Schedl A, Hastie ND. Cross-talk in kidney development. Curr Opin Genet Dev. 2000;5:543-549.
3. McCallion A, Stames E, Conlon RA, et al. Phenotypic variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci. 2003;100:1826-1831.
4. Sinnassamy P, Yazbeck S, Brochu P, et al. Renal anomalies and agenesis associated with total intestinal aganglionosis. Int J Pediatr Nephrol. 1986;7:1-2.
5. Virdi VS,Cheema AS. Neonatal Hirschsprung disease with multicystic dysplastic kidneys presenting as multiple gastrointestinal perforations. Trop Gastroenterol. 2003;24:99-101.
6. McIntyre E, Bond P, Douglas F, et al. Multiple endocrine neoplasia type 2A: an unusual clinical presentation and association with renal dysplasia. Cancer Genet Cytogen. 2003;141:157-159.
7. Lore F, Cairano G, Talidis F. Unilateral renal agenesis in a family with medullary thyroid carcinoma. N Engl J Med. 2000;342:1218-1219.
8. Martucciello G, Torre M, Belloni E, et al. Currarino syndrome: proposal of a diagnostic and therapeutic protocol. J Pediatr Surg. 2004;39:1305-1311.
9. Siegelman M, Mohabeer A, Fahey TJ III, et al. Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Clin Chem. 1997;43:453-457.
10. Reish O, Gorlin RJ, Hordinsky M, et al. Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft plate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-lined syndrome? Am J Med Genet. 1997;68:386-390.
11. Parisi M, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr. 2000;12:610-617.
12. Lyonnet S, Bolino A, Pelet A, et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genet. 1993;4:346-350.
13. Angrist M, Kauffman E, Slaugenhaupt SSA, et al. A gene for Hirschprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet. 1993;4:351-356.
14. Noll WW. Utility of RET mutation analysis in multiple endocrine neoplasia type 2. Arch Pathol Lab Med. 1999;123:1047-1049.
15. Brown N, Cotterill SJ, Roberts P, et al. Cytogenetic abnormalities and clinical outcome in Wilms tumor: a study by the UK Cancer Cytogenetics Group and the UK Children's Cancer Study Group. Med Pediatr Oncol. 2002;38:11-21.
16. Punnett HH, Halligan GE, Zaeri N, et al. Translocation 10;17 in clear cell sarcoma of the kidney. A first report. Cancer Genet Cytogenet. 1989;41:123-128.
17. Takahashi M, Iwashita T, Santoro M, et al. Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss of function? Hum Mutat. 1999;13:331-336.