title: Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion.
abstract: Endometrial stromal tumors (ESTs) are composed of cells resembling endometrial stroma, and are divided into benign and malignant types based on morphology. Endometrial stromal nodule (ESN) is a benign localized tumor, and endometrial stromal sarcoma (ESS) is an infiltrative and potentially metastatic neoplasm. A series of genetic aberrations contribute to pathological diagnosis of ESTs. At present, subsets of ESN and ESS-low grade (ESS-LG) are characterized as JAZF1-SUZ12/JJAZ1 gene fusion. The ESTs that show higher grade atypia but lack nuclear pleomorphism include YWHAE-FAM22 ESS. Here we report an unusual case of ESTs. Sudden colonic perforation occurred to the patient, and emergency surgery was performed. Pathological findings suggested metastatic ESS. Thorough medical examination of the genital organs detected a 1 cm-sized well-demarcated uterine tumor. Microscopically, the tumor lacked infiltrative features, conforming to the definition of ESN. Both lesions demonstrated identical cytology and shared JAZF1-SUZ12 gene fusion. Endometriosis was not found in any areas of the resected organs, strongly suggesting that the uterine orthotopic tumor metastasized. The current case uncovered the problems of differential diagnosis between ESN and ESS-LG. We demonstrate detailed pathological features of the two lesions, and discuss the possibility of orthotopic EST with limited infiltration to develop into ESS-LG.
authors.affiliation: Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Tokinaga
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Furuya
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Niino
authors.forename: Naoko
authors.initials: N
authors.lastname: Udaka
authors.forename: Mikiko
authors.initials: M
authors.lastname: Asai-Sato
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sekido
authors.forename: Etsuko
authors.initials: E
authors.lastname: Miyagi
mesh_terms: D000328:Adult; D056970:Co-Repressor Proteins; D003110:Colonic Neoplasms / Q000473:pathology*; D004268:DNA-Binding Proteins; D016889:Endometrial Neoplasms / Q000175:diagnosis / Q000473:pathology*; D036821:Endometrial Stromal Tumors / Q000175:diagnosis / Q000473:pathology*; D004717:Endometrium / Q000378:metabolism / Q000473:pathology; D005260:Female; D050939:Gene Fusion; D006801:Humans; D060787:Neoplasm Grading; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism*; D063151:Polycomb Repressive Complex 2 / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors; D063151:Polycomb Repressive Complex 2
keywords: JAZF1- SUZ12; endometrial stromal nodule; endometrial stromal sarcoma; gene fusion; metastasis