Sökning: onr:"swepub:oai:lup.lub.lu.se:29914e45-2f96-4041-9225-bf29f1fe0aad" >
Identification of C...
Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)
-
- Kao, Yu Chien (författare)
- Taipei Medical University
-
- Yoshida, Akihiko (författare)
- National Cancer Center Hospital, Japan
-
- Hsieh, Tsung Han (författare)
- Taipei Medical University
-
visa fler...
-
- Nord, Karolin H. (författare)
- 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
-
- Saba, Karim H. (författare)
- 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
-
- Ichikawa, Hitoshi (författare)
- National Cancer Center Research Institute, Japan
-
Tsai, Jen Wei (författare)
-
- Huang, Hsuan Ying (författare)
- Chang Gung University
-
- Chih-Hsueh Chen, Paul (författare)
- Taipei Veterans General Hospital
-
- Fletcher, Christopher D.M. (författare)
- Brigham and Women's Hospital / Harvard Medical School
-
- Lee, Jen Chieh (författare)
- National Taiwan University Hospital
-
visa färre...
-
(creator_code:org_t)
- Elsevier BV, 2023
- 2023
- Engelska.
-
Ingår i: Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. - : Elsevier BV. - 1530-0285. ; 36:2
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- bizarre parosteal osteochondromatous proliferation
- gene fusions
- Nora lesion
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Kao, Yu Chien
-
Yoshida, Akihiko
-
Hsieh, Tsung Han
-
Nord, Karolin H.
-
Saba, Karim H.
-
Ichikawa, Hitosh ...
-
visa fler...
-
Tsai, Jen Wei
-
Huang, Hsuan Yin ...
-
Chih-Hsueh Chen, ...
-
Fletcher, Christ ...
-
Lee, Jen Chieh
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Medicinsk geneti ...
- Artiklar i publikationen
-
Modern Pathology ...
-
Modern Pathology
- Av lärosätet
-
Lunds universitet