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Identification of C...
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Kao, Yu ChienTaipei Medical University
(author)
Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)
- Article/chapterEnglish2023
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LIBRIS-ID:oai:lup.lub.lu.se:29914e45-2f96-4041-9225-bf29f1fe0aad
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https://lup.lub.lu.se/record/29914e45-2f96-4041-9225-bf29f1fe0aadURI
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https://doi.org/10.1016/j.modpat.2022.100011DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Notes
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Bizarre parosteal osteochondromatous proliferation (BPOP) (Nora lesion) is a benign bone surface lesion, which most commonly occurs in the digits of young patients and has a high rate of recurrence. Histologically, it is composed of a mixture of disorganized bone, cartilage, and spindle cells in variable proportions and characterized by amorphous "blue bone" mineralization. Recurrent chromosomal abnormalities, including t(1;17)(q32-42;q21-23) and inv(7)(q21.1-22q31.3-32), have been reported in BPOP. However, the exact genes involved in the rearrangements remain unknown. In this study, we analyzed 8 BPOP cases affecting the fingers, toe, ulna, radius, and fibula of 5 female and 3 male patients, aged 5 to 68 years. RNA sequencing of 5 cases identified genetic fusions between COL1A2 and LINC-PINT in 3 cases and COL1A1::MIR29B2CHG fusion in 1, both validated using fluorescence in situ hybridization and reverse transcription (RT)-PCR. The remaining fusion-negative case harbored 3 COL1A1 mutations as revealed by whole-exome sequencing and confirmed using Sanger sequencing. All these genetic alterations were predicted to cause frameshift and/or truncation of COL1A1/2. The chromosomal locations of COL1A2 (7q21.3), LINC-PINT (7q32.3), COL1A1 (17q21.33), and MIR29B2CHG (1q32.2) were consistent with the breakpoints identified in the previous cytogenetic studies. Subsequent screening of 3 BPOPs using fluorescence in situ hybridization identified 1 additional case each with COL1A1 or COL1A2 rearrangement. Our findings are consistent with reported chromosomal abnormalities and implicate the disruption of type I collagen, and perhaps of either noncoding RNA gene as a tumor suppressor, in the tumorigenesis of BPOP. The prevalence and tumorigenic mechanisms of these COL1A1/2 alterations in BPOP require further investigation.
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Yoshida, AkihikoNational Cancer Center Hospital, Japan
(author)
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Hsieh, Tsung HanTaipei Medical University
(author)
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Nord, Karolin H.Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Komplexa kromosomförändringar i cancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic chaos in aggressive cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)klin-kha
(author)
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Saba, Karim H.Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Komplexa kromosomförändringar i cancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic chaos in aggressive cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)ka1361sa
(author)
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Ichikawa, HitoshiNational Cancer Center Research Institute, Japan
(author)
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Tsai, Jen Wei
(author)
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Huang, Hsuan YingChang Gung University
(author)
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Chih-Hsueh Chen, PaulTaipei Veterans General Hospital
(author)
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Fletcher, Christopher D.M.Brigham and Women's Hospital / Harvard Medical School
(author)
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Lee, Jen ChiehNational Taiwan University Hospital
(author)
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Taipei Medical UniversityNational Cancer Center Hospital, Japan
(creator_code:org_t)
Related titles
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In:Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc: Elsevier BV36:21530-0285
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In:Modern Pathology: Elsevier BV36:20893-3952
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Kao, Yu Chien
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Yoshida, Akihiko
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Hsieh, Tsung Han
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Nord, Karolin H.
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Saba, Karim H.
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Tsai, Jen Wei
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