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Turner syndrome and meningioma: Support for a possible increased risk of neoplasia in Turner syndrome
被引:14
作者:

Pier, Danielle B.
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MassGen Hosp Children, Med Genet Unit, Boston, MA USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA

Nunes, Fabio P.
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Massachusetts Gen Hosp, Stephen E & Catherine Pappas Ctr Neurooncol, Dept Neurol, Boston, MA 02114 USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA

Plotkin, Scott R.
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Massachusetts Gen Hosp, Stephen E & Catherine Pappas Ctr Neurooncol, Dept Neurol, Boston, MA 02114 USA
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA

Stemmer-Rachamimov, Anat O.
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Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA

Kim, James C.
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Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA

Shih, Helen A.
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Massachusetts Gen Hosp, Dept Radiat Oncol, Boston, MA 02114 USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA

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Lin, Angela E.
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MassGen Hosp Children, Med Genet Unit, Boston, MA USA MassGen Hosp Children, Med Genet Unit, Boston, MA USA
机构:
[1] MassGen Hosp Children, Med Genet Unit, Boston, MA USA
[2] Massachusetts Gen Hosp, Stephen E & Catherine Pappas Ctr Neurooncol, Dept Neurol, Boston, MA 02114 USA
[3] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[4] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA
[5] Massachusetts Gen Hosp, Dept Radiat Oncol, Boston, MA 02114 USA
[6] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA
[7] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA
[8] Broad Inst MIT & Harvard, Boston, MA USA
关键词:
Aortic dissection;
Meningioma;
NF2;
Pseudocoarctation;
Sex chromosome abnormality syndrome;
Turner syndrome;
HORMONE REPLACEMENT THERAPY;
MULTIPLE MENINGIOMAS;
REPRODUCTIVE FACTORS;
WOMEN;
CANCER;
D O I:
10.1016/j.ejmg.2014.03.005
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45, X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. (C) 2014 Elsevier Masson SAS. All rights reserved.
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页码:269 / 274
页数:6
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机构: Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA USA

MacCollin, M
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机构: Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA USA