Fusion of the
COL4A5
COL4A5–NR2F2-AS1
Hemangioma
NR2F2-AS1
RNA sequencing
chromosome translocation
cytogenetics
fusion gene
karyotype
Journal
Cancer genomics & proteomics
ISSN: 1790-6245
Titre abrégé: Cancer Genomics Proteomics
Pays: Greece
ID NLM: 101188791
Informations de publication
Date de publication:
Historique:
received:
28
03
2020
revised:
21
04
2020
accepted:
22
04
2020
entrez:
25
6
2020
pubmed:
25
6
2020
medline:
12
2
2021
Statut:
ppublish
Résumé
Hemangiomas are benign neoplastic proliferations of blood vessels. Cytogenetic information on hemangiomas is limited to four tumors with abnormal karyotypes. We report here a solitary chromosomal translocation and its molecular consequence in a hemangioma. A cavernous hemangioma was extirpated from the foot of a 62 years old man and genetically studied with cytogenetic and molecular genetic methodologies. G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,Y,t(X;15)(q22;q26)[4]/46,XY[12]. RNA sequencing detected fusion of the collagen type IV alpha 5 chain gene (COL4A5 on Xq22.3) with intronic sequences of nuclear receptor subfamily 2 group F member 2 antisense RNA 1 (NR2F2-AS1 on 15q26.2) resulting in a putative COL4A5 truncated protein. The fusion was verified by RT-PCR together with Sanger sequencing and FISH analyses. The involvement of COL4A5 indicates that some hemangiomas have pathogenetic similarities with other benign tumors such as leiomyomas and subungual exostosis.
Sections du résumé
BACKGROUND/AIM
OBJECTIVE
Hemangiomas are benign neoplastic proliferations of blood vessels. Cytogenetic information on hemangiomas is limited to four tumors with abnormal karyotypes. We report here a solitary chromosomal translocation and its molecular consequence in a hemangioma.
MATERIALS AND METHODS
METHODS
A cavernous hemangioma was extirpated from the foot of a 62 years old man and genetically studied with cytogenetic and molecular genetic methodologies.
RESULTS
RESULTS
G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,Y,t(X;15)(q22;q26)[4]/46,XY[12]. RNA sequencing detected fusion of the collagen type IV alpha 5 chain gene (COL4A5 on Xq22.3) with intronic sequences of nuclear receptor subfamily 2 group F member 2 antisense RNA 1 (NR2F2-AS1 on 15q26.2) resulting in a putative COL4A5 truncated protein. The fusion was verified by RT-PCR together with Sanger sequencing and FISH analyses.
CONCLUSION
CONCLUSIONS
The involvement of COL4A5 indicates that some hemangiomas have pathogenetic similarities with other benign tumors such as leiomyomas and subungual exostosis.
Identifiants
pubmed: 32576583
pii: 17/4/383
doi: 10.21873/cgp.20197
pmc: PMC7367601
doi:
Substances chimiques
COL4A5 protein, human
0
COUP Transcription Factor II
0
Collagen Type IV
0
NR2F2 protein, human
0
Oncogene Proteins, Fusion
0
RNA, Antisense
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
383-390Informations de copyright
Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
Références
Oncogene. 2005 May 12;24(21):3419-26
pubmed: 15735689
Surv Ophthalmol. 2017 Jul - Aug;62(4):393-403
pubmed: 28131871
AJR Am J Roentgenol. 2011 Jul;197(1):8-11
pubmed: 21701004
Sports Health. 2013 Sep;5(5):448-54
pubmed: 24427416
Cancer Genet Cytogenet. 2008 Jan 1;180(1):70-3
pubmed: 18068538
J Med Genet. 2013 Nov;50(11):745-53
pubmed: 23958657
Am J Pathol. 2013 May;182(5):1494-500
pubmed: 23485734
Cancer Genet Cytogenet. 2006 Oct 1;170(1):69-70
pubmed: 16965959
J Invest Dermatol. 2010 Mar;130(3):904-7
pubmed: 19890351
PLoS One. 2016 Sep 14;11(9):e0161802
pubmed: 27627812
N Engl J Med. 2013 Jul 4;369(1):43-53
pubmed: 23738515
Matrix Biol. 2017 Jan;57-58:45-54
pubmed: 27576055
PLoS Comput Biol. 2011 May;7(5):e1001138
pubmed: 21625565
Cells. 2019 Dec 31;9(1):
pubmed: 31906104
Am J Surg Pathol. 2013 Apr;37(4):613-6
pubmed: 23480895
Am J Hum Genet. 2016 Apr 7;98(4):789-95
pubmed: 27058448
Genes Chromosomes Cancer. 2015 Sep;54(9):565-74
pubmed: 26173738
Am J Pathol. 1998 Mar;152(3):673-8
pubmed: 9502408
Matrix Biol. 2017 Jan;57-58:1-11
pubmed: 28040522
Steroids. 2019 Jan;141:63-69
pubmed: 30481528
Int J Oncol. 2016 Mar;48(3):1242-50
pubmed: 26708416
Am J Surg Pathol. 2015 Oct;39(10):1313-21
pubmed: 26135557
Cancer Genomics Proteomics. 2019 Sep-Oct;16(5):361-368
pubmed: 31467230
Clin Exp Nephrol. 2019 Feb;23(2):158-168
pubmed: 30128941
Genes Chromosomes Cancer. 1990 Mar;1(4):315-6
pubmed: 2278963
Nat Genet. 2011 Nov 06;43(12):1256-61
pubmed: 22057234
Int J Cancer. 2006 Apr 15;118(8):1972-6
pubmed: 16284948
Histopathology. 2009 Jun;54(7):860-72
pubmed: 19635106
Aging Male. 2019 Sep 28;:1-7
pubmed: 31566058
Cytogenet Cell Genet. 1997;78(3-4):240-6
pubmed: 9465897
World J Gastroenterol. 2015 Sep 7;21(33):9793-802
pubmed: 26361427
Nephrol Dial Transplant. 2002 Jan;17(1):70-4
pubmed: 11773466
Radiographics. 2004 Mar-Apr;24(2):367-85
pubmed: 15026587
J Cell Mol Med. 2019 Mar;23(3):2001-2011
pubmed: 30592135
Kidney Int. 1992 Nov;42(5):1178-83
pubmed: 1453602
J Biochem. 1998 May;123(5):767-76
pubmed: 9562604
Genes Chromosomes Cancer. 2017 Dec;56(12):855-860
pubmed: 28845532
AJR Am J Roentgenol. 2008 May;190(5):1291-9
pubmed: 18430846
J Hum Genet. 2017 Jul;62(7):733-735
pubmed: 28275241
Biochem J. 2005 May 1;387(Pt 3):755-61
pubmed: 15598179
Oncol Rep. 2015 Aug;34(2):577-84
pubmed: 26043835
Genes Chromosomes Cancer. 2014 Nov;53(11):951-9
pubmed: 25043949