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马富西综合征所致内生软骨瘤的垂体并发症

Pituitary Complications of Enchondromas Due to Maffucci Syndrome.

作者信息

Morozov Nicole, Fell Rafael, Mahmood Muhammad

机构信息

Department of Internal Medicine, The Jewish Hospital (Bon Secours Mercy Health), Cincinnati, OH 45236, USA.

出版信息

JCEM Case Rep. 2025 Apr 18;3(6):luaf072. doi: 10.1210/jcemcr/luaf072. eCollection 2025 Jun.

DOI:10.1210/jcemcr/luaf072
PMID:40255442
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12006738/
Abstract

Maffucci syndrome (MS) is a congenital disorder caused by a gain-of-function variant in isocitrate dehydrogenase-1 () or isocitrate dehydrogenase-2 () genes on chromosomes 2 and 15, respectively. Common manifestations include the development of multiple enchondromas, chondrosarcomas, and intracranial tumors such as pituitary adenomas. Endocrinological conditions are less frequently associated with MS. We present a patient with MS with complete anterior pituitary insufficiency with central hypothyroidism, adrenal insufficiency, and hypogonadotropic hypogonadism, which may be related to the mass effect of her intracranial enchondromas. With hormonal treatments including thyroid hormone replacement, hydrocortisone, and cabergoline, the patient's symptoms of fatigue and cold intolerance improved. We highlight the importance of endocrinological evaluation in patients with neurological tumors related to MS.

摘要

马富西综合征（MS）是一种先天性疾病，分别由2号和15号染色体上的异柠檬酸脱氢酶-1（IDH1）或异柠檬酸脱氢酶-2（IDH2）基因的功能获得性变异引起。常见表现包括多发性内生软骨瘤、软骨肉瘤以及垂体腺瘤等颅内肿瘤的发生。内分泌疾病与MS的关联较少。我们报告了一名患有MS的患者，其存在完全性垂体前叶功能减退，伴有中枢性甲状腺功能减退、肾上腺功能不全和低促性腺激素性性腺功能减退，这可能与其颅内内生软骨瘤的占位效应有关。通过甲状腺激素替代、氢化可的松和卡麦角林等激素治疗，患者的疲劳和畏寒症状得到改善。我们强调了对与MS相关的神经肿瘤患者进行内分泌评估的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/173d20b1ccd4/luaf072f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/512ee4e28f32/luaf072f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/69c5a60b341a/luaf072f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/7c6e9a4ab7eb/luaf072f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/173d20b1ccd4/luaf072f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/512ee4e28f32/luaf072f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/69c5a60b341a/luaf072f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/7c6e9a4ab7eb/luaf072f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd57/12006738/173d20b1ccd4/luaf072f4.jpg

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本文引用的文献

1
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Multiple hereditary exostoses and enchondromatosis.多发性遗传性外生骨疣和软骨瘤病。
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Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.Maffucci 综合征并发三种不同的中枢神经系统肿瘤，均携带 IDH1 R132C 突变：病例报告。
J Neurosurg. 2018 Dec 21;131(6):1829-1834. doi: 10.3171/2018.6.JNS18729. Print 2019 Dec 1.
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Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.马富西综合征患者垂体腺瘤中的体细胞异柠檬酸脱氢酶1（IDH1）突变
J Neurosurg. 2016 Jun;124(6):1562-7. doi: 10.3171/2015.4.JNS15191. Epub 2015 Oct 16.
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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.奥里耶病和马富西综合征是由 IDH1 和 IDH2 的体细胞镶嵌突变引起的。
Nat Genet. 2011 Nov 6;43(12):1262-5. doi: 10.1038/ng.994.
7
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.体细胞镶嵌性 IDH1 和 IDH2 突变与 Ollier 病和 Maffucci 综合征中的软骨瘤和梭形细胞血管瘤有关。
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Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature.颅内肿瘤在 Ollier 病和 Maffucci 综合征中是否存在差异？文献深入分析。
Neurosurgery. 2009 Dec;65(6):1106-13; discussion 1113-5. doi: 10.1227/01.NEU.0000356984.92242.D5.
9
A case of Maffucci's syndrome associated with primary hyperparathyroidism.1例马富西综合征合并原发性甲状旁腺功能亢进症。
Endocrinol Jpn. 1981 Jun;28(3):363-7. doi: 10.1507/endocrj1954.28.363.
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A rare case of Maffucci's syndrome combined with tuberculum sellae enchondroma, pituitary adenoma and thyroid adenoma.1例罕见的马富西综合征合并鞍结节软骨瘤、垂体腺瘤和甲状腺腺瘤。
Acta Neurochir (Wien). 1987;87(1-2):79-85. doi: 10.1007/BF02076022.