PMID- 29660202 OWN - NLM STAT- MEDLINE DCOM- 20180619 LR - 20220330 IS - 1349-7006 (Electronic) IS - 1347-9032 (Print) IS - 1347-9032 (Linking) VI - 109 IP - 6 DP - 2018 Jun TI - Molecular biomarkers for uterine leiomyosarcoma and endometrial stromal sarcoma. PG - 1743-1752 LID - 10.1111/cas.13613 [doi] AB - Uterine leiomyosarcoma (u-LMS) and endometrial stromal sarcoma (ESS) are among the most frequent soft tissue sarcomas, which, in adults, lead to fatal lung metastases and patients have an extremely poor prognosis. Due to their rarity and heterogeneity, there are no suitable biomarkers for diagnosis and prognosis, although some biomarker candidates have appeared. In 2017, The Cancer Genome Atlas (TCGA) Research Network's work on u-LMS has confirmed mutations and deletions in RB1, TP53 and PTEN. In addition, whole-exome sequencing of u-LMS has confirmed and demonstrated frequent alterations in TP53, RB1, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) and mediator complex subunit 12 (MED12). MED12 is a useful biomarker to diagnose uterine-derived LMS and tumors arising from (LM) with a relatively favorable prognosis. TP53 and ATRX mutations can be important mechanisms in the pathogenesis of u-LMS and are correlated with a poor prognosis. In an update based on the 2014 WHO classification, low-grade ESS is often associated with gene rearrangement bringing about the JAZF 1-SUZ12 (formerly JAZF1-JJAZ1) fusion gene, whereas high-grade ESS is associated with the YWHAE-NUTM fusion gene. Low-grade ESS with JAZF1 rearrangement may correlate with metastasis. However, high-grade ESS with metastasis with YWHAE rearrangement shows a relatively favorable prognosis. The genetic/molecular genetic aberrations in u-LMS and ESS are reviewed, focusing on molecular biomarkers for these primary and metastatic tumors. CI - (c) 2018 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association. FAU - Tsuyoshi, Hideaki AU - Tsuyoshi H AD - Faculty of Medical Sciences, Department of Obstetrics and Gynecology, University of Fukui, Fukui, Japan. FAU - Yoshida, Yoshio AU - Yoshida Y AUID- ORCID: 0000-0003-0769-0385 AD - Faculty of Medical Sciences, Department of Obstetrics and Gynecology, University of Fukui, Fukui, Japan. LA - eng PT - Journal Article PT - Review DEP - 20180523 PL - England TA - Cancer Sci JT - Cancer science JID - 101168776 RN - 0 (Biomarkers, Tumor) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (RB1 protein, human) RN - 0 (Retinoblastoma Binding Proteins) RN - 0 (Tumor Suppressor Protein p53) RN - EC 2.3.2.27 (Ubiquitin-Protein Ligases) RN - EC 3.1.3.67 (PTEN Phosphohydrolase) SB - IM MH - Biomarkers, Tumor/*genetics MH - Female MH - Humans MH - Leiomyosarcoma/diagnosis/*genetics MH - Oncogene Proteins, Fusion/genetics MH - PTEN Phosphohydrolase/genetics MH - Retinoblastoma Binding Proteins/genetics MH - Sarcoma, Endometrial Stromal/diagnosis/*genetics MH - Tumor Suppressor Protein p53/genetics MH - Ubiquitin-Protein Ligases/genetics MH - Uterine Neoplasms/diagnosis/*genetics PMC - PMC5989874 OTO - NOTNLM OT - The Cancer Genome Atlas project OT - endometrial stromal sarcoma OT - genetic aberrations OT - uterine leiomyosarcoma EDAT- 2018/04/17 06:00 MHDA- 2018/06/21 06:00 PMCR- 2018/06/01 CRDT- 2018/04/17 06:00 PHST- 2018/01/10 00:00 [received] PHST- 2018/04/07 00:00 [revised] PHST- 2018/04/09 00:00 [accepted] PHST- 2018/04/17 06:00 [pubmed] PHST- 2018/06/21 06:00 [medline] PHST- 2018/04/17 06:00 [entrez] PHST- 2018/06/01 00:00 [pmc-release] AID - CAS13613 [pii] AID - 10.1111/cas.13613 [doi] PST - ppublish SO - Cancer Sci. 2018 Jun;109(6):1743-1752. doi: 10.1111/cas.13613. Epub 2018 May 23.