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Intravenous leiomyomatosis: molecular analysis of 17 cases.
Pathology. 2020 Feb; 52(2):213-217.P

Abstract

Intravenous leiomyomatosis (IVL) is a rare smooth muscle tumour with a benign histology but with a quasi-malignant intravascular growth. In this study, we investigated the molecular alterations in 17 IVL cases composed of concurrent uterine leiomyoma (n=12), uterine IVL (n=17) and extra-uterine IVL (n=12). We found that eight tumours had a somatic MED12 mutation (c.130G>A, p.G44S, n=7; c.131G>C, p.G44A, n=1). The frequency of MED12 mutations was significantly higher in concurrent uterine leiomyoma (6/12, 50%) than in uterine (0/17, 0%) and extra-uterine IVL (2/12, 16.7%). The frequency of HMGA2 over-expression or MED12 low-expression was not significantly different among uterine leiomyoma, IVL and extra-uterine IVL (p>0.05). Short tandem repeat (STR) analysis indicated that one uterine and two extra-uterine IVL tumours from three patients were microsatellite instability positive (MSI+) whereas loss of heterozygosity (LOH) was found in one uterine leiomyoma, three uterine and three extra-uterine IVL tumours from five patients. LOH was more frequently seen in uterine/extra-uterine IVL tumours (6/20, 30%) than in the concurrent leiomyomas (1/7, 14.3%) (p<0.05). MED12 mutation, MSI and LOH were discordant between uterine and extra-uterine IVL in all patients. These findings suggest that IVL harbours distinct molecular pathogenesis from common uterine leiomyomas. Uterine IVL and extra-uterine tumours may represent an independent origin rather than uniclonal dissemination from a single tumour. Further investigations are warranted to explore the underlying key molecular events in the pathogenesis of IVL.

Authors+Show Affiliations

Department of Surgical Pathology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China; Center for Uterine Cancer Diagnosis and Therapy Research of Zhejiang Province, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. Electronic address: lbj@zju.edu.cn.Department of Surgical Pathology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.Department of Surgical Pathology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.Department of Clinical Laboratory Medicine, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.Department of Surgical Pathology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31889549

Citation

Lu, Bingjian, et al. "Intravenous Leiomyomatosis: Molecular Analysis of 17 Cases." Pathology, vol. 52, no. 2, 2020, pp. 213-217.
Lu B, Liu Q, Tang L, et al. Intravenous leiomyomatosis: molecular analysis of 17 cases. Pathology. 2020;52(2):213-217.
Lu, B., Liu, Q., Tang, L., Ma, Y., & Shi, H. (2020). Intravenous leiomyomatosis: molecular analysis of 17 cases. Pathology, 52(2), 213-217. https://doi.org/10.1016/j.pathol.2019.10.009
Lu B, et al. Intravenous Leiomyomatosis: Molecular Analysis of 17 Cases. Pathology. 2020;52(2):213-217. PubMed PMID: 31889549.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Intravenous leiomyomatosis: molecular analysis of 17 cases. AU - Lu,Bingjian, AU - Liu,Qin, AU - Tang,Lanlan, AU - Ma,Yu, AU - Shi,Haiyan, Y1 - 2019/12/28/ PY - 2019/08/30/received PY - 2019/10/15/revised PY - 2019/10/20/accepted PY - 2020/1/1/pubmed PY - 2020/1/1/medline PY - 2020/1/1/entrez KW - Intravenous leiomyomatosis KW - MED12 mutation KW - fluorescence multiplex PCR-capillary electrophoresis (FM-CE) KW - short tandem repeat (STR) analysis KW - uterine leiomyoma SP - 213 EP - 217 JF - Pathology JO - Pathology VL - 52 IS - 2 N2 - Intravenous leiomyomatosis (IVL) is a rare smooth muscle tumour with a benign histology but with a quasi-malignant intravascular growth. In this study, we investigated the molecular alterations in 17 IVL cases composed of concurrent uterine leiomyoma (n=12), uterine IVL (n=17) and extra-uterine IVL (n=12). We found that eight tumours had a somatic MED12 mutation (c.130G>A, p.G44S, n=7; c.131G>C, p.G44A, n=1). The frequency of MED12 mutations was significantly higher in concurrent uterine leiomyoma (6/12, 50%) than in uterine (0/17, 0%) and extra-uterine IVL (2/12, 16.7%). The frequency of HMGA2 over-expression or MED12 low-expression was not significantly different among uterine leiomyoma, IVL and extra-uterine IVL (p>0.05). Short tandem repeat (STR) analysis indicated that one uterine and two extra-uterine IVL tumours from three patients were microsatellite instability positive (MSI+) whereas loss of heterozygosity (LOH) was found in one uterine leiomyoma, three uterine and three extra-uterine IVL tumours from five patients. LOH was more frequently seen in uterine/extra-uterine IVL tumours (6/20, 30%) than in the concurrent leiomyomas (1/7, 14.3%) (p<0.05). MED12 mutation, MSI and LOH were discordant between uterine and extra-uterine IVL in all patients. These findings suggest that IVL harbours distinct molecular pathogenesis from common uterine leiomyomas. Uterine IVL and extra-uterine tumours may represent an independent origin rather than uniclonal dissemination from a single tumour. Further investigations are warranted to explore the underlying key molecular events in the pathogenesis of IVL. SN - 1465-3931 UR - https://www.unboundmedicine.com/medline/citation/31889549/Intravenous_leiomyomatosis:_molecular_analysis_of_17_cases_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0031-3025(19)30440-4 DB - PRIME DP - Unbound Medicine ER -
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