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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

Publisher, publication year, extent ...

  • Elsevier BV,2023

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:29914e45-2f96-4041-9225-bf29f1fe0aad
  • https://lup.lub.lu.se/record/29914e45-2f96-4041-9225-bf29f1fe0aadURI
  • https://doi.org/10.1016/j.modpat.2022.100011DOI

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  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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)
  • Hsieh, Tsung HanTaipei Medical University (author)
  • 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)
  • 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)
  • Ichikawa, HitoshiNational Cancer Center Research Institute, Japan (author)
  • Tsai, Jen Wei (author)
  • Huang, Hsuan YingChang Gung University (author)
  • Chih-Hsueh Chen, PaulTaipei Veterans General Hospital (author)
  • Fletcher, Christopher D.M.Brigham and Women's Hospital / Harvard Medical School (author)
  • Lee, Jen ChiehNational Taiwan University Hospital (author)
  • Taipei Medical UniversityNational Cancer Center Hospital, Japan (creator_code:org_t)

Related titles

  • In:Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc: Elsevier BV36:21530-0285
  • In:Modern Pathology: Elsevier BV36:20893-3952

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