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

被引：7

作者：

Chen, Chunyan ^{[1
]}

Li, Jian ^{[2
,3
]}

Jiang, Ting ^{[1
]}

Tang, Juan ^{[1
]}

Zhang, Zhichang ^{[4
]}

Luo, Yanli ^{[1
]}

Wang, Xinpei ^{[5
]}

Sun, Keyang ^{[1
]}

Jiang, Zhiming ^{[1
]}

Zhou, Juan ^{[1
]}

Liu, Zhiyan ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Dept Pathol, Sch Med, Shanghai 200233, Peoples R China

[2] Peking Univ, Dept Pathol, Shenzhen Hosp, Shenzhen 518036, Peoples R China

[3] Peking Univ, State Key Lab Chem Oncogen, Shenzhen Grad Sch, Shenzhen 518055, Peoples R China

[4] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Dept Orthopaed, Sch Med, Shanghai 200233, Peoples R China

[5] Shandong Univ, Cheeloo Coll Med, Sch Basic Med Sci, Dept Pathol, Jinan 250012, Peoples R China

来源：

DIAGNOSTICS | 2022年 / 12卷 / 11期

关键词：

isocitrate dehydrogenase; Ollier disease; Maffucci syndrome; cartilage tumour; extraskeletal neoplasms; haemangioma; paediatric ovarian tumour; ISOCITRATE DEHYDROGENASE 1; ENCHONDROMATOSIS; CHONDROSARCOMA; INSIGHTS; PATIENT;

D O I：

10.3390/diagnostics12112764

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：9