期刊
VIRCHOWS ARCHIV
卷 480, 期 2, 页码 281-291出版社
SPRINGER
DOI: 10.1007/s00428-021-03217-z
关键词
Cellular leiomyoma; MED12; HMGA2; Chromosome 1p; NGS; ddPCR
类别
资金
- Ministry of Health, Czech Republic [MH CZ DRO-VFN 64165, AZV NU2203-00122]
- Charles University [Q28/LF1, UNCE204065]
- European Regional Development Fund [CZ.02.1.01/0.0/0.0/18_046/0015959, BBMRI_CZ LM2018125]
Cellular leiomyoma (CL) is characterized by high expression of smooth muscle markers and endometrial stromal markers, with IFITM1 demonstrating superior performance in differentiation, and frequent molecular abnormalities involving HMGA2, chromosome 1p deletions, and MED12 mutations.
Cellular leiomyoma (CL) represents an uncommon variant of uterine leiomyoma with limited data concerning its immunohistochemical and molecular profile. We performed a comprehensive analysis of 52 CL cases all of which were analyzed immunohistochemically. Molecular analysis was possible in 32 cases with sufficient DNA, and 38 cases with sufficient RNA. The immunohistochemical results showed a high expression of smooth muscle markers (calponin (100%), desmin (100%), smooth muscle actin (98.1%), caldesmon (96.1%), transgelin (96.1%), smooth muscle myosin heavy chain (86.5%), and smoothelin (61.5%)). Concerning markers of endometrial stromal differentiation, the expression of CD10 was observed in 65.4% cases (42.2% with H-score > 50), and IFITM1 in 36.5% cases (1.9% with H-score > 50). 36.5% showed HMGA2 overexpression at the IHC level, associated with increased mRNA expression in 14/14 cases. The rearrangement of the HMGA2 gene was detected in 13.2%. Chromosome 1p deletion was found in 19.3%, while 9.4% of tumors showed a pathogenic mutation in the MED12 gene. In conclusion, CL is immunohistochemically characterized by a high expression of smooth muscle markers commonly associated with a co-expression of endometrial stromal markers, where IFITM1 shows superior performance compared to CD10 regarding its specificity for differentiation from endometrial stromal tumors. The sensitivity of smoothelin in CL seems rather low, but no data is available to assess its specificity. On a molecular level, the most common mutually exclusive aberration in CL affects HMGA2, followed by chromosome 1p deletions and MED12 mutations.
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