IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.
IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.
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DOI：
10.3390/diagnostics12112764
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发表时间：
2022-11-11
期刊：
影响因子：
--
通讯作者：
Liu Z
中科院分区：
文献类型：
--
作者：
Chen C;Li J;Jiang T;Tang J;Zhang Z;Luo Y;Wang X;Sun K;Jiang Z;Zhou J;Liu Z
背景资料：本研究的目的是调查异柠檬酸脱氢酶基因突变的患者与非遗传性骨骼疾病的奥利耶病和Maffucci综合征，特别是在骨外肿瘤。方法：共收集了3例Ollier病和3例Maffucci综合征患者的16个肿瘤。采用桑格测序法检测多种肿瘤组织中IDH 1和IDH 2基因的热点突变。结果如下：大多数肿瘤显示IDH 1突变（11种肿瘤中的p.R132C，包括1例Ollier病患者的儿科卵巢肿瘤，3例Maffucci综合征患者的4例皮肤血管瘤，5例内生软骨瘤和1例软骨肉瘤; 1例患者的2例软骨肿瘤中的p.R132H）。结论：IDH 1基因突变在多个软骨肿瘤和皮肤外肿瘤在这个案例系列。具体而言，在每个患者的单独病变中证实了相同的IDH 1突变。这些结果与已报告的结果一致。然而，在这里，我们还报告了第一例奥利耶病与卵巢肿瘤，其中含有相同的IDH 1突变与相应的软骨肿瘤。我们进一步提供了证据，IDH突变是Ollier病和Maffucci综合征的多发性肿瘤性病变之间的潜在遗传联系。
Background: This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours. Methods: A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of IDH1 and IDH2 genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an IDH1 mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from one patient with Ollier disease, 4 cutaneous haemangiomas from three patients with Maffucci syndrome, 5 enchondromas and 1 chondrosarcoma; p.R132H in 2 cartilaginous tumours from one patient). Conclusions: IDH1 mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical IDH1 mutations were confirmed in the separate lesions of each patient. These results are in concordance with findings that have been reported. However, here, we additionally reported the first case of Ollier disease with an ovarian tumour, which harboured the identical IDH1 mutation with the corresponding cartilaginous tumour. We further provided evidence that IDH mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome.
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影响因子：
--
作者：
Suijker J;Oosting J;Koornneef A;Struys EA;Salomons GS;Schaap FG;Waaijer CJ;Wijers-Koster PM;Briaire-de Bruijn IH;Haazen L;Riester SM;Dudakovic A;Danen E;Cleton-Jansen AM;van Wijnen AJ;Bovée JV
通讯作者：
Bovée JV
影响因子：
64.8
作者：
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影响因子：
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作者：
Smolková K;Ježek P
通讯作者：
Ježek P
影响因子：
3.7
作者：
Jin Y;Elalaf H;Watanabe M;Tamaki S;Hineno S;Matsunaga K;Woltjen K;Kobayashi Y;Nagata S;Ikeya M;Kato T Jr;Okamoto T;Matsuda S;Toguchida J
通讯作者：
Toguchida J
影响因子：
50.3
作者：
Figueroa ME;Abdel-Wahab O;Lu C;Ward PS;Patel J;Shih A;Li Y;Bhagwat N;Vasanthakumar A;Fernandez HF;Tallman MS;Sun Z;Wolniak K;Peeters JK;Liu W;Choe SE;Fantin VR;Paietta E;Löwenberg B;Licht JD;Godley LA;Delwel R;Valk PJ;Thompson CB;Levine RL;Melnick A
通讯作者：
Melnick A