+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion



Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion



Pathology International 64(4): 178-182



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 052169213

Download citation: RISBibTeXText

PMID: 24750188

DOI: 10.1111/pin.12151


Related references

JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas. Orphanet Journal of Rare Diseases 11: 15, 2016

Endometrial stromal sarcoma: morphologic features and detection of JAZF1-SUZ12 and YWHAE FAM22 fusion genes. Zhonghua Bing Li Xue Za Zhi 45(5): 308-313, 2017

Low-grade endometrial stromal sarcoma with a novel MEAF6-SUZ12 fusion. Virchows Archiv 2019, 2019

JAZF1 and JJAZ1 gene fusion in primary extrauterine endometrial stromal sarcoma. Human Pathology 42(7): 939-946, 2011

The JAZF1-SUZ12 fusion protein disrupts PRC2 complexes and impairs chromatin repression during human endometrial stromal tumorogenesis. Oncotarget 8(3): 4062-4078, 2016

Prognostic value of the diagnostic criteria distinguishing endometrial stromal sarcoma, low grade from undifferentiated endometrial sarcoma, 2 entities within the invasive endometrial stromal neoplasia family. International Journal of Gynecological Pathology 32(3): 299-306, 2013

A well circumscribed uterine endometrial stromal tumor with smooth muscle differentiation recurred as a low grade endometrial stromal sarcoma: is tumor margin enough for the diagnosis?. Pathology International 62(5): 363-365, 2012

Extrauterine endometrial stromal sarcoma with JAZF1/JJAZ1 fusion confirmed by RT-PCR and interphase FISH presenting as an inguinal tumor. Virchows Archiv 450(3): 349-353, 2007

A recurrent endometrial stromal sarcoma harbors the novel fusion JAZF1-BCORL1. Gynecologic Oncology Reports 20: 51-53, 2017

Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: Nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). Cancer Genetics and Cytogenetics 144(2): 119-124, 2003

Endometrial stromal nodules and endometrial stromal tumors with limited infiltration: a clinicopathologic study of 50 cases. American Journal of Surgical Pathology 26(5): 567-581, 2002

Absence of the JAZF1/SUZ12 chimeric transcript in the immortalized non-neoplastic endometrial stromal cell line T HESCs. Oncology Letters 1(6): 947-950, 2010

Low-grade Endometrioid Stromal Sarcoma of the Paratestis: A Novel Report With Molecular Confirmation of JAZF1/SUZ12 Translocation. American Journal of Surgical Pathology 42(5): 695-700, 2018

Endometrial Stromal Nodules and Endometrial Stromal Tumors With Limited Infiltration. The American Journal of Surgical Pathology 26(5): 567-581, 2002

A recurrent fusion gene in high-grade endometrial stromal sarcoma: a new tool for diagnosis and therapy?. Genome Medicine 4(3): 20, 2012