title: Malignant perivascular epithelioid cell tumor (PEComa) of cervix with TFE3 gene rearrangement: a case report.
abstract: In this study, we reported the first PEComa arising within the cervix with TFE3 gene rearrangement and aggressive biological behavior. Morphologically, the tumor showed infiltrative growth into the surrounding parenchyma. The majority of tumor cells were arrayed in sheets, alveolar structures, or nests separated by delicate fibrovascular septa. There was marked intratumoral hemorrhage, necrosis, and stromal calcifications. The tumor cells had abundant clear cytoplasm, focally containing finely granular dark brown pigment, morphologically considered to be melanin. Immunohistochemically, the tumor cells demonstrated moderately (2+) or strongly (3+) positive staining for TFE3, HMB45, and Melan A but negative for CKpan, SMA, S100, PAX8, and PAX2. The presence of Ki-67 protein demonstrated a moderate proliferation rate, with a few Ki-67-positive nuclei. Using a recently developed TFE3 split FISH assay, the presence of TFE3 rearrangement was demonstrated. All these clinicopathologic features are suggestive of TFE3-rearranged PEComas of the cervix. Our results both expand the known characteristics of primary cervix PEComas and add to the data regarding TFE3 rearrangement-associated PEComas.
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China ; Department of Pathology, Affiliated Hospital of Jining Medical University Jining, China.
authors.forename: Feifei
authors.initials: F
authors.lastname: Liu
authors.affiliation: Department of Pathology, Affiliated Hospital of Jining Medical University Jining, China.
authors.forename: Renya
authors.initials: R
authors.lastname: Zhang
authors.affiliation: School of Basic Medical Sciences, Nanjing University of Traditional Chinese Medicine Nanjing, China.
authors.forename: Zi-Yu
authors.initials: ZY
authors.lastname: Wang
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qiuyuan
authors.initials: Q
authors.lastname: Xia
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Shen
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Shi
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Pin
authors.initials: P
authors.lastname: Tu
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qunli
authors.initials: Q
authors.lastname: Shi
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Rao
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D001706:Biopsy; D049109:Cell Proliferation; D005260:Female; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008207:Lymphatic Metastasis; D009361:Neoplasm Invasiveness; D009364:Neoplasm Recurrence, Local; D054973:Perivascular Epithelioid Cell Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000556:secondary / Q000601:surgery; D010641:Phenotype; D012086:Reoperation; D013997:Time Factors; D016896:Treatment Outcome; D002583:Uterine Cervical Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; C069203:TFE3 protein, human
keywords: FISH; TFE3; immunohistochemistry; perivascular epithelioid cell tumor; rearrangement; translocation