Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions.
Angiomyofibroblastoma
MTG1-CYP2E1 fusion
mesenchymal tumours
vulva
Journal
Histopathology
ISSN: 1365-2559
Titre abrégé: Histopathology
Pays: England
ID NLM: 7704136
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
revised:
20
09
2022
received:
03
08
2022
accepted:
22
09
2022
pubmed:
1
10
2022
medline:
11
11
2022
entrez:
30
9
2022
Statut:
ppublish
Résumé
Angiomyofibroblastoma (AMF), a rare benign vulvovaginal mesenchymal tumour, poses a diagnostic challenge due to histologic and immunohistochemical overlap with other vulvar mesenchymal tumours. Recently, MTG1-CYP2E1 fusion transcripts were reported in 5/5 AMFs; no other genetic alterations have been described to date. Herein, we sought to investigate the frequency of the MTG1-CYP2E1 fusion and the presence of other potential genetic alterations in a cohort of AMFs (n = 7, patient age range: 28-49 years). Tumours demonstrated classic morphologic features including alternating hypo/hypercellular areas, capillary channels surrounded by epithelioid/spindled tumour cells, and variable amounts of mature adipose tissue. reverse transcription-polymerase chain reaction (RT-PCR) for MTG1-CYP2E1 fusion, performed in all seven cases, showed the fusion transcript in five of six cases (one case with technical failure). Two tumours, including the one lacking the fusion, were subjected to targeted next-generation sequencing (104 genes) and a sarcoma fusion assay (28 genes); the fusion negative AMF also underwent RNA sequencing. No additional mutations, copy number alterations, or fusion genes were identified with the assays employed. We conclude that the majority of AMFs harbour recurrent MTG1-CYP2E1 fusion transcripts and identification of this fusion may aid in the diagnosis.
Identifiants
pubmed: 36177509
doi: 10.1111/his.14813
pmc: PMC10335785
mid: NIHMS1910592
doi:
Substances chimiques
Cytochrome P-450 CYP2E1
EC 1.14.13.-
MTG1 protein, human
EC 3.6.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
841-846Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA247749
Pays : United States
Informations de copyright
© 2022 John Wiley & Sons Ltd.
Références
Histopathology. 2004 Oct;45(4):360-8
pubmed: 15469474
Hum Pathol. 2014 Aug;45(8):1647-55
pubmed: 24880711
Am J Surg Pathol. 2004 Dec;28(12):1601-8
pubmed: 15577679
Int J Gynecol Pathol. 2003 Jul;22(3):277-84
pubmed: 12819396
Histopathology. 2005 Feb;46(2):137-43
pubmed: 15693885
Nat Commun. 2020 Jan 2;11(1):44
pubmed: 31896750
Pathol Int. 1995 Jul;45(7):487-92
pubmed: 7551008
Am J Surg Pathol. 2016 Mar;40(3):361-7
pubmed: 26523539
J Cutan Pathol. 2015 Jul;42(7):441-51
pubmed: 25925211
Mod Pathol. 1996 Mar;9(3):284-91
pubmed: 8685229
Histopathology. 1997 Jan;30(1):3-10
pubmed: 9023551
Am J Surg Pathol. 2012 Aug;36(8):1119-28
pubmed: 22790852
Int J Gynecol Pathol. 2006 Oct;25(4):403-7
pubmed: 16990720
Mod Pathol. 2021 Dec;34(12):2222-2228
pubmed: 34385605
Hum Pathol. 1997 Sep;28(9):1046-55
pubmed: 9308729
Adv Anat Pathol. 2020 May;27(3):164-192
pubmed: 31149908
Semin Diagn Pathol. 2021 Jan;38(1):85-98
pubmed: 32958293
Am J Surg Pathol. 1992 Apr;16(4):373-82
pubmed: 1314521
Mod Pathol. 2011 Jan;24(1):82-9
pubmed: 20852591
Diagn Pathol. 2017 Feb 13;12(1):17
pubmed: 28193293
Am J Surg Pathol. 2001 Aug;25(8):1022-9
pubmed: 11474286
Am J Surg Pathol. 1997 Sep;21(9):1104-8
pubmed: 9298888
Hum Pathol. 2012 Feb;43(2):243-53
pubmed: 21820148
Nat Med. 2014 Dec;20(12):1479-84
pubmed: 25384085
Hum Pathol. 2001 Jul;32(7):715-25
pubmed: 11486170
Int J Gynecol Pathol. 2021 Mar 1;40(2):185-189
pubmed: 32897956
Genes Chromosomes Cancer. 2007 Nov;46(11):981-90
pubmed: 17654722
Histopathology. 2002 Apr;40(4):309-26
pubmed: 11943015