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

页码：530 / 532

页数：3

共 50 条

[1] Slow progression of periampullary neoplasia in familial adenomatous polyposis
Kouros L. Moozar
Lisa Madlensky
Terri Berk
Steven Gallinger
Journal of Gastrointestinal Surgery, 2002, 6 : 831 - 837
[2] Large Cystic Metanephric Adenoma in a 15-Year-Old Girl
Saltzman, Amanda F.
Carrasco, Alonso, Jr.
Maccini, Michael A.
Caldwell, Brian T.
Treece, Amy L.
Cost, Nicholas G.
UROLOGY, 2017, 101 : 147 - 150
[3] Metastatic Paraganglioma Presenting as Incontinence in a 15-Year-Old Girl
Alavi-Dunn, Nicole
Mamlok, Viviane
Smith, Cynthia K.
UROLOGY, 2016, 98 : 161 - 164
[4] Slow progression of periampullary neoplasia in familial adenomatous polyposis
Moozar, KL
Madlensky, L
Berk, T
Gallinger, S
JOURNAL OF GASTROINTESTINAL SURGERY, 2002, 6 (06) : 831 - 837
[5] Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
Nakahira, Hiroko
Takeuchi, Yoji
Shimamoto, Yusaku
Ishiguro, Shingo
Yunokizaki, Hiroshi
Ezoe, Yasumasa
Fujisawa, Fumie
Ishihara, Ryu
Takayama, Tetsuji
Yoshida, Teruhiko
Mutoh, Michihiro
Ishikawa, Hideki
HEREDITARY CANCER IN CLINICAL PRACTICE, 2023, 21 (01)
[6] Early diagnosis of familial adenomatous polyposis based on multiple osteomas of the skull
Heinimann, K
Kunz, C
Farine, E
Rey, JP
Müller, H
Dobbie, Z
SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT, 1999, 129 (17) : 665 - 669
[7] Mesenteric fibromatosis in a young girl without familial adenomatous polyposis
Huerta, S
Heubner, DR
Marcus, DR
JOURNAL OF PEDIATRIC SURGERY, 2005, 40 (05)
[8] Thyroid neoplasia and familial adenomatous polyposis Gardner's syndrome
Hizawa, K
Iida, M
Aoyagi, K
Yao, T
Fujishima, M
JOURNAL OF GASTROENTEROLOGY, 1997, 32 (02) : 196 - 199
[9] Histopathological Evaluation of Pouch Neoplasia in IBD and Familial Adenomatous Polyposis
Ko, Huaibin Mabel
DISEASES OF THE COLON & RECTUM, 2024, 67 : S91 - S98
[10] Ileoanal pouch neoplasia in familial adenomatous polyposis: An underestimated threat
Church, J
DISEASES OF THE COLON & RECTUM, 2005, 48 (09) : 1708 - 1713

← 1 2 3 4 5 →