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MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study.
Hum Pathol. 2020 May; 99:36-42.HP

Abstract

Intravenous leiomyomatosis (IVL) is a rare neoplasm that is characterized by smooth muscle cell proliferation within venous vessels. The aim of this study is to investigate the clinicopathological features, immunophenotypes, and MED12 gene mutations in IVL. Nine cases of IVL from the Affiliated Hospital of Qingdao University were collected, and the clinicopathological features were reviewed. The immunohistochemical expressions of p16, phosphatase and tensin homolog deleted on chromosome 10 (PTEN), alpha thalassemia/mental retardation syndrome X-linked (ATRX), retinoblastoma 1 (RB1), fumarate hydratase (FH), and p53, were evaluated. The mutation status of MED12 gene exon 2 was detected by Sanger sequencing. All the 9 patients were women ranging from 32 to 58 years, and uterine leiomyomas were identified in 5 patients. Immunohistochemical staining showed that all IVL and leiomyoma samples were positive for estrogen receptor and progesterone receptor, but negative for CD34. IVL displayed similar immunostaining patterns with their uterine counterparts with focal p16 immunostaining. FH, PTEN, ATRX, and RB1 were variably positive, and p53 and Ki-67 positive rates were less than 5% in all cases. Two novel genetic variations at MED12 exon 2, a synonymous mutation c.141C>T (p.Asn47=), and an in-frame deletion mutation c.133_147del15 (p.Phe45_Pro49del) were identified in two IVL cases. One missense mutation c.131G>A (p.Gly44Asp) was identified in one uterine leiomyoma. The remaining 11 tumor samples (7 IVL cases and 4 uterine leiomyomas) showed no mutations at MED12 exon 2. Our results showed two novel MED12 mutations in IVL. The MED12 mutations are different between IVL and uterine leiomyoma. These findings indicate that IVL is a unique entity and different from uterine leiomyoma.

Authors+Show Affiliations

Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China. Electronic address: edithxing@126.com.Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266555, China. Electronic address: wangjg@qduhospital.cn.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32240666

Citation

Wang, Lili, et al. "MED12 Exon 2 Mutation Is Uncommon in Intravenous Leiomyomatosis: Clinicopathologic Features and Molecular Study." Human Pathology, vol. 99, 2020, pp. 36-42.
Wang L, Hu S, Xin F, et al. MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study. Hum Pathol. 2020;99:36-42.
Wang, L., Hu, S., Xin, F., Zhao, H., Li, G., Ran, W., Xing, X., & Wang, J. (2020). MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study. Human Pathology, 99, 36-42. https://doi.org/10.1016/j.humpath.2020.03.011
Wang L, et al. MED12 Exon 2 Mutation Is Uncommon in Intravenous Leiomyomatosis: Clinicopathologic Features and Molecular Study. Hum Pathol. 2020;99:36-42. PubMed PMID: 32240666.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study. AU - Wang,Lili, AU - Hu,Shasha, AU - Xin,Fangjie, AU - Zhao,Han, AU - Li,Guangqi, AU - Ran,Wenwen, AU - Xing,Xiaoming, AU - Wang,Jigang, Y1 - 2020/03/30/ PY - 2020/01/07/received PY - 2020/03/01/revised PY - 2020/03/25/accepted PY - 2020/4/3/pubmed PY - 2020/4/3/medline PY - 2020/4/3/entrez KW - Cancer driver genes KW - Gene mutation KW - Intravenous leiomyomatosis KW - MED12 KW - Uterine leiomyoma SP - 36 EP - 42 JF - Human pathology JO - Hum. Pathol. VL - 99 N2 - Intravenous leiomyomatosis (IVL) is a rare neoplasm that is characterized by smooth muscle cell proliferation within venous vessels. The aim of this study is to investigate the clinicopathological features, immunophenotypes, and MED12 gene mutations in IVL. Nine cases of IVL from the Affiliated Hospital of Qingdao University were collected, and the clinicopathological features were reviewed. The immunohistochemical expressions of p16, phosphatase and tensin homolog deleted on chromosome 10 (PTEN), alpha thalassemia/mental retardation syndrome X-linked (ATRX), retinoblastoma 1 (RB1), fumarate hydratase (FH), and p53, were evaluated. The mutation status of MED12 gene exon 2 was detected by Sanger sequencing. All the 9 patients were women ranging from 32 to 58 years, and uterine leiomyomas were identified in 5 patients. Immunohistochemical staining showed that all IVL and leiomyoma samples were positive for estrogen receptor and progesterone receptor, but negative for CD34. IVL displayed similar immunostaining patterns with their uterine counterparts with focal p16 immunostaining. FH, PTEN, ATRX, and RB1 were variably positive, and p53 and Ki-67 positive rates were less than 5% in all cases. Two novel genetic variations at MED12 exon 2, a synonymous mutation c.141C>T (p.Asn47=), and an in-frame deletion mutation c.133_147del15 (p.Phe45_Pro49del) were identified in two IVL cases. One missense mutation c.131G>A (p.Gly44Asp) was identified in one uterine leiomyoma. The remaining 11 tumor samples (7 IVL cases and 4 uterine leiomyomas) showed no mutations at MED12 exon 2. Our results showed two novel MED12 mutations in IVL. The MED12 mutations are different between IVL and uterine leiomyoma. These findings indicate that IVL is a unique entity and different from uterine leiomyoma. SN - 1532-8392 UR - https://www.unboundmedicine.com/medline/citation/32240666/MED12_exon_2_mutation_is_uncommon_in_intravenous_leiomyomatosis:_clinicopathologic_features_and_molecular_study_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0046-8177(20)30060-5 DB - PRIME DP - Unbound Medicine ER -
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