title: Breakages at YWHAE, FAM22A, and FAM22B loci in uterine angiosarcoma: a case report with immunohistochemical and genetic analysis.
abstract: Described herein is the first reported case of a uterine angiosarcoma with breakages at three loci, YWHAE (17p13), FAM22A (10q23) and FAM22B (10q22). A 62-year-old postmenopausal woman was found to have endometrial thickening of her uterus. An endometrial biopsy indicated a malignant, spindle cell neoplasm. A total hysterectomy with bilateral salpingooophorectomy was performed. Histologic examination of the uterine specimen showed a malignant tumor consisting of irregular rudimentary vascular channels and solid small nests diffusely infiltrating to the middle of the myometrial wall. The tumor cells were epithelioid, and displayed eosinophilic cytoplasm and vesicular nuclei in some areas of the tumor. Immunohistochemically, the tumor cells showed vascular differentiation; they were diffusely positive for CD31 and D2-40 but were negative for factor VIII and CD34. In the course of the procedure of differential diagnoses, we included fluorescence in situ hybridization analysis for detection of a FAM22B-YWHAE fusion gene resulting from t(10;17)(q22;p13), recently reported in a series of endometrial stromal sarcoma, and unexpectedly identified breakages at three loci, i.e. YWHAE (17p13), FAM22A (10q23) and FAM22B (10q22). Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma.
authors.affiliation: Division of Pathology, Iwata City Hospital, Japan. Electronic address: shiosuzuki-path@umin.net.
authors.forename: Shioto
authors.initials: S
authors.lastname: Suzuki
authors.affiliation: Division of Pathology, Iwata City Hospital, Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Tanioka
authors.affiliation: Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Minato
authors.affiliation: Department of Pathology, Seirei Mikatahara General Hospital, Japan.
authors.forename: Ayse
authors.initials: A
authors.lastname: Ayhan
authors.affiliation: Division of Laboratory Medicine, Iwata City Hospital, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Kasami
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Sugimura
mesh_terms: D048948:14-3-3 Proteins / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000378:metabolism*; D017024:Chemotherapy, Adjuvant; D019457:Chromosome Breakage; D005260:Female; D006394:Hemangiosarcoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014594:Uterine Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014599:Uterus / Q000473:pathology
chemical_list: D048948:14-3-3 Proteins; D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion; C482983:YWHAE protein, human; C576541:YWHAE-FAM22 fusion protein, human
keywords: Angiosarcoma; FAM22; Uterus; YWHAE