Multiple Neoplasia in a 15-year-old Girl With Familial Adenomatous Polyposis

被引：3
|
作者：
Brasseur, Benoit [1 ]
Dahan, Karin [2 ]
Beauloye, Veronique [3 ]
Bletard, Noella [4 ]
Chantrain, Christophe [1 ]
Dupont, Sophie [1 ]
Guarin, Jean-Luc [2 ]
Vermylen, Christiane [1 ]
Brichard, Benedicte [1 ]
机构：
[1] Catholic Univ Louvain, Dept Pediat Haematol & Oncol, St Luc Univ Hosp, B-1200 Brussels, Belgium
[2] Catholic Univ Louvain, Ctr Human Genet, St Luc Univ Hosp, B-1200 Brussels, Belgium
[3] Catholic Univ Louvain, Dept Pediat Endocrinol, St Luc Univ Hosp, B-1200 Brussels, Belgium
[4] Catholic Univ Louvain, Dept Pathol, St Luc Univ Hosp, B-1200 Brussels, Belgium
来源：
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2009年 / 31卷 / 07期
关键词：
APC gene; brain tumor-polyposis syndrome; familial adenomatous polyposis; germline mutation; papillary thyroid carcinoma; Turcot syndrome; PAPILLARY THYROID-CARCINOMA; GENOTYPE-PHENOTYPE CORRELATIONS; CHILDHOOD-CANCER SURVIVOR; OF-THE-LITERATURE; APC GENE; MOLECULAR ANALYSIS; VARIANT; MUTATIONS; TUMORS;
D O I：
10.1097/MPH.0b013e3181984f91
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
A 15-year-old girl with adenomatous polyposis coli gene (APC) mutation and brain tumor-polyposis syndrome developed an unusual succession of cervicocephalic tumors (medulloblastoma, meningeal low-grade myxoid tumor, and papillary thyroid carcinoma), at the age of 5, 9, and 15 years, respectively. We discuss the genetic profile of the thyroid tumor in which a large somatic deletion of A PC gene was found and the physiopathology of thyroid carcinoma in patients with germline APC mutation. We also point out the uncommon phenotype in this young girl with early multiple neoplasias and the difficulties of management of such familial adenomatous polyposis patients with occurrence of extracolonic cancers that require the use of potential trigger agents as radiotherapy or chemotherapy.
引用
收藏
页码：530 / 532
页数：3
相关论文
共 50 条
  • [41] Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3′ APC mutation
    Kartheuser, A
    Walon, C
    West, S
    Breukel, C
    Detry, R
    Gribomont, AC
    Hamzehloei, T
    Hoang, P
    Maiter, D
    Pringot, J
    Rahier, J
    Khan, PM
    Curtis, A
    Burn, J
    Fodde, R
    Verellen-Dumoulin, C
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (01) : 65 - 67
  • [42] Recurrent giant cranial desmoid tumor in a 3-year-old boy with familial adenomatous polyposis requiring bifrontoparietal cranioplasty: case report
    Li, Luyuan
    Jensen, John N.
    Szabo, Sara
    VanTuinen, Peter
    Lew, Sean M.
    JOURNAL OF NEUROSURGERY-PEDIATRICS, 2016, 18 (06) : 703 - 707
  • [43] A 15-Year-Old Male Baseball Player With a Mass in the Brachialis Muscle
    Golub, Ivan J.
    Garcia, Roberto A.
    Wittig, James C.
    ORTHOPEDICS, 2016, 39 (03) : E545 - E548
  • [44] Primary synovial sarcoma of the parotid gland in 15-year-old boy
    Luksic, Ivica
    Viraga, Miso
    Manojlovic, Spomenka
    Obradovic, Bojan
    Macan, Darko
    Stepan, Jasminka
    JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY, 2011, 39 (06) : 445 - 448
  • [45] Tissue prostanoids as biomarkers for chemoprevention of colorectal neoplasia: correlation between prostanoid synthesis and clinical response in familial adenomatous polyposis
    Yang, VW
    Geiman, DE
    Hubbard, WC
    Spannhake, EW
    Hylind, LM
    Hamilton, SR
    Giardiello, FM
    PROSTAGLANDINS & OTHER LIPID MEDIATORS, 2000, 60 (1-3) : 83 - 96
  • [46] A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis
    Schirosi, Laura
    Pellegrino, Marcello
    Tarantino, Paolo
    Mauro, Salvatore
    Tinelli, Andrea
    Greco, Marilena
    INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS, 2013, 28 (04) : E405 - E408
  • [47] Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14
    Castori, Marco
    Fiorillo, Chiara
    Agolini, Emanuele
    Sacco, Michele
    Minetti, Carlo
    Novelli, Antonio
    Guglielnni, Giuseppe
    Bertini, Enrico
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (02) : 317 - 321
  • [48] Feasibility of Cold Snare Polypectomy for Multiple Duodenal Adenomas in Patients with Familial Adenomatous Polyposis: A Pilot Study
    Kenta Hamada
    Yoji Takeuchi
    Hideki Ishikawa
    Yusuke Tonai
    Noriko Matsuura
    Yasumasa Ezoe
    Ryu Ishihara
    Yasuhiko Tomita
    Hiroyasu Iishi
    Digestive Diseases and Sciences, 2016, 61 : 2755 - 2759
  • [49] Cushing's syndrome due to unilateral multiple adrenal adenomas as an extraintestinal manifestation of familial adenomatous polyposis
    Roos, Annemieke
    Groen, Emma J.
    van Beek, Andre P.
    INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2009, 24 (02) : 239 - 239
  • [50] Feasibility of Cold Snare Polypectomy for Multiple Duodenal Adenomas in Patients with Familial Adenomatous Polyposis: A Pilot Study
    Hamada, Kenta
    Takeuchi, Yoji
    Ishikawa, Hideki
    Tonai, Yusuke
    Matsuura, Noriko
    Ezoe, Yasumasa
    Ishihara, Ryu
    Tomita, Yasuhiko
    Iishi, Hiroyasu
    DIGESTIVE DISEASES AND SCIENCES, 2016, 61 (09) : 2755 - 2759
12345