title: Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
abstract: BACKGROUND
  Endometrial cancer that occurs concurrently with peritoneal malignant mesothelioma (PMM) is difficult to diagnose preoperatively.
  
  
  METHODS
  A postmenopausal woman had endometrial cancer extending to the cervix, vagina and pelvic lymph nodes, and PMM in bilateral ovaries, cul-de-sac, and multiple peritoneal sites. Adjuvant therapies included chemotherapy and radiotherapy. Targeted, massively parallel DNA sequencing and molecular inversion probe microarray analysis revealed a germline TP53 mutation compatible with Li-Fraumeni-like syndrome, somatic mutations of PIK3CA in the endometrial cancer, and a somatic mutation of GNA11 and JAK3 in the PMM. Large-scale genomic amplifications and some deletions were found in the endometrial cancer. The patient has been stable for 24 months after therapy. One of her four children was also found to carry the germline TP53 mutation.
  
  
  CONCLUSIONS
  Molecular characterization of the coexistent tumors not only helps us make the definite diagnosis, but also provides information to select targeted therapies if needed in the future. Identification of germline TP53 mutation further urged us to monitor future development of malignancies in this patient and encourage cancer screening in her family.
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan. angel945@cgmh.org.tw.
authors.forename: Angel
authors.initials: A
authors.lastname: Chao
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan. sh46erry@ms6.hinet.net.
authors.forename: Chyong-Huey
authors.initials: CH
authors.lastname: Lai
authors.affiliation: Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taoyuan, Taiwan. bojack@mail.mcu.edu.tw.|Department of Biotechnology, Ming-Chuan University, Taoyuan, Taiwan. bojack@mail.mcu.edu.tw.
authors.forename: Yun-Shien
authors.initials: YS
authors.lastname: Lee
authors.affiliation: Department of Pathology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan. susie.ueng@gmail.com.
authors.forename: Shir-Hwa
authors.initials: SH
authors.lastname: Ueng
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan. chiao.yun0101@gmail.com.
authors.forename: Chiao-Yun
authors.initials: CY
authors.lastname: Lin
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan. knoxtn@cgmh.org.tw.|Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taoyuan, Taiwan. knoxtn@cgmh.org.tw.
authors.forename: Tzu-Hao
authors.initials: TH
authors.lastname: Wang
mesh_terms: D058534:Class I Phosphatidylinositol 3-Kinases; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D053616:Janus Kinase 3 / Q000235:genetics; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008175:Lung Neoplasms / Q000235:genetics*; D008654:Mesothelioma / Q000235:genetics*; D000086002:Mesothelioma, Malignant; D008875:Middle Aged; D009154:Mutation; D010534:Peritoneal Neoplasms / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D058534:Class I Phosphatidylinositol 3-Kinases; D044385:GTP-Binding Protein alpha Subunits; D053616:Janus Kinase 3; D019869:Phosphatidylinositol 3-Kinases; D016159:Tumor Suppressor Protein p53; C554062:GNA11 protein, human; C495901:TP53 protein, human; C484760:PIK3CA protein, human; C507933:JAK3 protein, human