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[Clinicopathological features and gene phenotypes of benign metastasizing leiomyoma].
Zhonghua Bing Li Xue Za Zhi. 2020 Jul 08; 49(7):704-709.ZB

Abstract

Objective:

To study the clinicopathological features, immunophenotypes and MED12 gene status in benign metastasizing leiomyoma (BML).

Methods:

Nine cases of BML diagnosed at the Affiliated Hospital of Qingdao University from 2012 to 2018 were collected, and the radiologic and histologic features were analyzed. The protein expression of leiomyosarcoma-related driver genes, including RB1, PTEN,ATRX,p16,p53, as well as ER,PR,CD34,FH, and Ki-67 were detected using immunohistochemistry, and the mutation status of MED12 gene exon 2 was detected by Sanger sequencing.

Results:

All the nine patients with BML were female, and the age range was 48 to 64 years (median 55 years). All patients had history of uterine fibroids. The morphologic features of BML were similar to a benign uterine leiomyoma and did not exhibit malignant characteristics. All cases were positive for ER and PR, and negative for CD34. In addition, RB1, PTEN, ATRX, and FH were positive in all cases (wild type), while p16 showed a focally positive pattern. P53 positive index was less than 5% (wild type), and Ki-67 positive index was less than 1%. Sanger sequencing was done in six BML samples; one sample harbored a nonsense mutation c. 142_144delinsTAA (p.Glu48Ter), and another exhibited a synonymy mutation (c.192C>T, p.Phe64=)and one missense mutation c.196C>T (p.Pro66Ser).

Conclusions:

The present study suggests that BML is a unique leiomyoma entity that is pathologically and genetically different from leiomyosarcomas and conventional uterine leiomyomas. Evaluating the genetic phenotype of BML, especially the expression of leiomyosarcoma-related driver genes protein and MED12 gene status, may be helpful in understanding the pathogenesis of BML and in its differentiation from leiomyosarcoma.

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.

Pub Type(s)

Journal Article

Language

chi

PubMed ID

32610382

Citation

Hu, S S., et al. "[Clinicopathological Features and Gene Phenotypes of Benign Metastasizing Leiomyoma]." Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, vol. 49, no. 7, 2020, pp. 704-709.
Hu SS, Wang LL, Zhao H, et al. [Clinicopathological features and gene phenotypes of benign metastasizing leiomyoma]. Zhonghua Bing Li Xue Za Zhi. 2020;49(7):704-709.
Hu, S. S., Wang, L. L., Zhao, H., Li, G. Q., Ji, X. B., Xin, F. J., & Wang, J. G. (2020). [Clinicopathological features and gene phenotypes of benign metastasizing leiomyoma]. Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 49(7), 704-709. https://doi.org/10.3760/cma.j.cn112151-20191030-00702
Hu SS, et al. [Clinicopathological Features and Gene Phenotypes of Benign Metastasizing Leiomyoma]. Zhonghua Bing Li Xue Za Zhi. 2020 Jul 8;49(7):704-709. PubMed PMID: 32610382.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinicopathological features and gene phenotypes of benign metastasizing leiomyoma]. AU - Hu,S S, AU - Wang,L L, AU - Zhao,H, AU - Li,G Q, AU - Ji,X B, AU - Xin,F J, AU - Wang,J G, PY - 2020/7/2/entrez PY - 2020/7/3/pubmed PY - 2020/7/16/medline KW - Immunohistochemistry KW - Leiomyoma KW - MED12 KW - Phenotype SP - 704 EP - 709 JF - Zhonghua bing li xue za zhi = Chinese journal of pathology JO - Zhonghua Bing Li Xue Za Zhi VL - 49 IS - 7 N2 - Objective: To study the clinicopathological features, immunophenotypes and MED12 gene status in benign metastasizing leiomyoma (BML). Methods: Nine cases of BML diagnosed at the Affiliated Hospital of Qingdao University from 2012 to 2018 were collected, and the radiologic and histologic features were analyzed. The protein expression of leiomyosarcoma-related driver genes, including RB1, PTEN,ATRX,p16,p53, as well as ER,PR,CD34,FH, and Ki-67 were detected using immunohistochemistry, and the mutation status of MED12 gene exon 2 was detected by Sanger sequencing. Results: All the nine patients with BML were female, and the age range was 48 to 64 years (median 55 years). All patients had history of uterine fibroids. The morphologic features of BML were similar to a benign uterine leiomyoma and did not exhibit malignant characteristics. All cases were positive for ER and PR, and negative for CD34. In addition, RB1, PTEN, ATRX, and FH were positive in all cases (wild type), while p16 showed a focally positive pattern. P53 positive index was less than 5% (wild type), and Ki-67 positive index was less than 1%. Sanger sequencing was done in six BML samples; one sample harbored a nonsense mutation c. 142_144delinsTAA (p.Glu48Ter), and another exhibited a synonymy mutation (c.192C>T, p.Phe64=)and one missense mutation c.196C>T (p.Pro66Ser). Conclusions: The present study suggests that BML is a unique leiomyoma entity that is pathologically and genetically different from leiomyosarcomas and conventional uterine leiomyomas. Evaluating the genetic phenotype of BML, especially the expression of leiomyosarcoma-related driver genes protein and MED12 gene status, may be helpful in understanding the pathogenesis of BML and in its differentiation from leiomyosarcoma. SN - 0529-5807 UR - https://www.unboundmedicine.com/medline/citation/32610382/[Clinicopathological_features_and_gene_phenotypes_of_benign_metastasizing_leiomyoma]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&DOI=10.3760/cma.j.cn112151-20191030-00702 DB - PRIME DP - Unbound Medicine ER -
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