Isolated intestinal ganglioneuromatosis with a new mutation of RET proto-oncogene

被引：12
|
作者：
Nguyen, An T. T.
Zacharin, Margaret R.
Smith, Margaret
Hardikar, Winita
机构：
[1] Royal Childrens Hosp, Dept Gastroenterol & Clin Nutr, Parkville, Vic 3052, Australia
[2] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia
[3] Royal Childrens Hosp, Dept Endocrinol & Diabet, Parkville, Vic 3052, Australia
[4] Royal Childrens Hosp, Dept Gastroenterol, Parkville, Vic 3052, Australia
[5] Murdoch Childrens Res Inst, Ctr Hormone Res, Parkville, Vic 3052, Australia
[6] Royal Melbourne Hosp, Dept Pathol, Melbourne, Vic 3050, Australia
来源：
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY | 2006年 / 18卷 / 07期
关键词：
ganglioneuromatosis; multiple endocrine neoplasia; RET proto-oncogene;
D O I：
10.1097/01.meg.0000224473.66675.ad
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
A 13-year-old boy with a history of juvenile polyps of the colon was subsequently found to have isolated intestinal ganglioneuromatosis without any other features characteristic of multiple endocrine neoplasia (MEN) 2B. Screening for MEN 2B revealed a polymorphism of the RET proto-oncogene at codon 691 with a glycine to serine conversion. This mutation has not been described before in association with ganglioneuromatosis and MEN 2B. The phenotype and presentation are compared with those of previous case reports.
引用
收藏
页码：803 / 805
页数：3
相关论文
共 50 条
  • [41] Occurrence of sporadic medullary thyroid carcinoma in Graves' disease in association with a RET proto-oncogene mutation
    Donckier, Julian E.
    Fervaille, Caroline
    Bertrand, Claude
    ACTA CLINICA BELGICA, 2022, 77 (03) : 596 - 599
  • [42] A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation
    Miyauchi, A
    Egawa, S
    Futami, H
    Kuma, K
    Obara, T
    Yamaguchi, K
    JAPANESE JOURNAL OF CANCER RESEARCH, 1997, 88 (06): : 527 - 531
  • [43] RET proto-oncogene point mutations in sporadic neuroendocrine tumors
    Komminoth, P
    Roth, J
    MulettaFeurer, S
    Sareaslani, P
    Seelentag, WKF
    Heitz, PU
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (06): : 2041 - 2046
  • [44] cDNA sequence and genomic structure of the rat RET proto-oncogene
    Matera, I
    Miguel-Rodríguez, MD
    Fernández-Santos, JM
    Santamaria, G
    Puliti, A
    Ravazzolo, R
    Romeo, G
    Galera-Davidson, H
    Ceccherini, I
    DNA SEQUENCE, 2000, 11 (05): : 405 - 417
  • [45] RET proto-oncogene point mutations in sporadic neuroendocrine tumors
    Komminoth, P
    MulettaFeurer, S
    Saremaslani, P
    Seelentag, WKF
    Kunz, EK
    Hiort, O
    MatiasGuiu, X
    Roth, J
    Heitz, PU
    LABORATORY INVESTIGATION, 1996, 74 (01) : 270 - 270
  • [46] Molecular analysis of the RET proto-oncogene on MEN II patients
    Vasil'ev, EV
    Polyakova, EY
    Peterkova, VA
    Rumyantsev, PO
    Zaletayev, DV
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 247 - 248
  • [47] Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas
    Rodien, P
    Jeunemaitre, X
    Dumont, C
    Beldjord, C
    Plouin, PF
    HORMONE RESEARCH, 1997, 47 (4-6) : 263 - 268
  • [48] The RET proto-oncogene:: A molecular therapeutic target in thyroid cancer
    Kodama, Y
    Asai, N
    Kawai, K
    Jijiwa, M
    Murakumo, Y
    Ichihara, M
    Takahashi, M
    CANCER SCIENCE, 2005, 96 (03): : 143 - 148
  • [49] The RET proto-oncogene:: a potential target for molecular cancer therapy
    Pützer, BM
    Drosten, M
    TRENDS IN MOLECULAR MEDICINE, 2004, 10 (07) : 351 - 357
  • [50] Slovenian patients with RET proto-oncogene mutations in codon 790
    Bergant, D. M.
    Glavac, D.
    Peric, B.
    Glumac, N.
    Perhavec, A.
    Hocevar, M.
    WIENER KLINISCHE WOCHENSCHRIFT, 2014, 126 : S158 - S159
12345