<i>IDH</i> 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
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 thre...
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MDPI AG
2022-11-01
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| Ráidu: | Diagnostics |
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| Liŋkkat: | https://www.mdpi.com/2075-4418/12/11/2764 |
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| author | Chunyan Chen Jian Li Ting Jiang Juan Tang Zhichang Zhang Yanli Luo Xinpei Wang Keyang Sun Zhiming Jiang Juan Zhou Zhiyan Liu |
| author_facet | Chunyan Chen Jian Li Ting Jiang Juan Tang Zhichang Zhang Yanli Luo Xinpei Wang Keyang Sun Zhiming Jiang Juan Zhou Zhiyan Liu |
| author_sort | Chunyan Chen |
| collection | DOAJ |
| description | 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 <i>IDH1</i> and <i>IDH2</i> genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an <i>IDH1</i> 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: <i>IDH1</i> mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical <i>IDH1</i> 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 <i>IDH1</i> mutation with the corresponding cartilaginous tumour. We further provided evidence that <i>IDH</i> mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome. |
| first_indexed | 2024-03-09T18:23:24Z |
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| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T18:23:24Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-5f06b122e50e405eb8391d5c5db0eb962023-11-24T08:03:56ZengMDPI AGDiagnostics2075-44182022-11-011211276410.3390/diagnostics12112764<i>IDH</i> 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, ChinaChunyan Chen0Jian Li1Ting Jiang2Juan Tang3Zhichang Zhang4Yanli Luo5Xinpei Wang6Keyang Sun7Zhiming Jiang8Juan Zhou9Zhiyan Liu10Department of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, Peking University Shenzhen Hospital, Shenzhen 518036, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Orthopaedics, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan 250012, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Pathology, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaBackground: 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 <i>IDH1</i> and <i>IDH2</i> genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an <i>IDH1</i> 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: <i>IDH1</i> mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical <i>IDH1</i> 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 <i>IDH1</i> mutation with the corresponding cartilaginous tumour. We further provided evidence that <i>IDH</i> mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome.https://www.mdpi.com/2075-4418/12/11/2764isocitrate dehydrogenaseOllier diseaseMaffucci syndromecartilage tumourextraskeletal neoplasmshaemangioma |
| spellingShingle | Chunyan Chen Jian Li Ting Jiang Juan Tang Zhichang Zhang Yanli Luo Xinpei Wang Keyang Sun Zhiming Jiang Juan Zhou Zhiyan Liu <i>IDH</i> 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 Diagnostics isocitrate dehydrogenase Ollier disease Maffucci syndrome cartilage tumour extraskeletal neoplasms haemangioma |
| title | <i>IDH</i> 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 |
| title_full | <i>IDH</i> 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 |
| title_fullStr | <i>IDH</i> 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 |
| title_full_unstemmed | <i>IDH</i> 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 |
| title_short | <i>IDH</i> 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 |
| title_sort | i idh i 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 |
| topic | isocitrate dehydrogenase Ollier disease Maffucci syndrome cartilage tumour extraskeletal neoplasms haemangioma |
| url | https://www.mdpi.com/2075-4418/12/11/2764 |
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