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Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei
| Content Provider | Scilit |
|---|---|
| Author | Zhang, Qing Poropatich, Kate Ubago, Julianne Xie, Jia Xu, Xiuhua Frizzell, Norma Kim, Julie Kong, Beihua Wei, Jian-Jun |
| Copyright Year | 2018 |
| Description | Journal: International Journal of gynecological Pathology Leiomyoma with bizarre nuclei (LM-BN), is a variant of uterine smooth muscle tumor with atypical histologic features. Although some LM-BN share several significant genetic alterations with leiomyosarcoma, including p16 and p53, the underlying tumorigenesis of LM-BN remains largely unknown. As we previously reported, LM-BN can be divided into 2 subtypes, type I and type II, based on different nuclear features. Type I LM-BN have similar histologic features as uterine smooth muscle tumors with fumarate hydratase (FH) alterations. In this study, we examined FH expression and FH mutations in 77 LM-BN (40 type I cases and 37 type II cases). FH expression was examined by immunohistochemistry using S-(2-succino)-cysteine antibodies (2SC, a protein modification associated with FH inactivation and subsequent fumarate accumulation) and FH antibodies (FH gene products). Seventy-two LM-BN tumors underwent Sanger sequencing to detect FH mutations. We found that 51% (39/77) of LM-BN showed FH alterations detected by immunohistochemistry with both 2SC and FH. Mutational analysis showed that 21% (15/72) of LM-BN harbored FH gene mutations. Further analysis revealed that 85% (34/40) of those with FH alterations were type I LM-BN while 19% (7/37) were type II LM-BN. Our findings suggest that over half of histologically diagnosed LM-BN may be related to FH alterations or FH mutations and the majority of these have the characteristic histologic features of type I LM-BN. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832508/pdf https://insights.ovid.com/Common/SSRPdf/V1/JOURNAL/ijgyp/04.02/00004347-900000000-99269/root/v/2017-12-13T064746Z/r/application-pdf |
| Ending Page | 430 |
| Page Count | 10 |
| Starting Page | 421 |
| ISSN | 02771691 |
| e-ISSN | 15387151 |
| DOI | 10.1097/pgp.0000000000000447 |
| Journal | International Journal of gynecological Pathology |
| Issue Number | 5 |
| Volume Number | 37 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2018-09-01 |
| Access Restriction | Open |
| Subject Keyword | Journal: International Journal of gynecological Pathology Fumarate Hydratase Lm Bn |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pathology and Forensic Medicine Obstetrics and Gynecology |
