Primary Extrauterine Endometrial Stromal Sarcoma Research Articles

JAZF1, YWHAE and BCOR gene translocation in primary extrauterine low-grade and high-grade endometrial stromal sarcomas.

JAZF1 translocation is the most common genetic change in low-grade (LG) endometrial stromal sarcoma (ESS), and YWHAE and BCOR translocations are common in high-grade (HG) ESS. Primary extrauterine ESS is rare, and there are limited data on molecular alterations in these tumours. Cases of primary extrauterine ESS, comprising eight LG-ESS cases and five HG-ESS cases were collected. Haematoxylin and eosin and immunohistochemical staining were used to observe the histomorphology and analyse related protein expression. JAZF1, YWHAE and BCOR rearrangements were explored with fluorescence in-situ hybridisation (FISH). In LG-ESS, the tumour cells resembled normal proliferative-phase endometrial stromal cells; CD10, oestrogen receptor and progesterone receptor were expressed in all eight cases. In HG-ESS, the tumour cells had uniform HG round and/or spindle morphology, sometimes with an LG component; CD10 was fully expressed in one case and focally expressed in four cases; BCOR was expressed in all five cases, and cyclin D1 in four of five cases. FISH analysis showed JAZF1 translocation in one of eight LG-ESS cases (12.5%). YWHAE translocation occurred in four of five HG-ESS cases, with a positivity rate of 80%. BCOR translocation was absent in all five cases. In extrauterine LG-ESS, the rate of JAZF1 rearrangement was significantly lower than in uterine LG-ESS. This result limited the value of JAZF1 translocation for diagnosis. YWHAE rearrangement is a common genetic change in extrauterine HG-ESS. Further studies are required to confirm these findings, especially in LG-ESS.

A rare case of primary extrauterine endometrial stromal sarcoma involving the sigmoid colon

A rare case of primary extrauterine endometrial stromal sarcoma involving the sigmoid colon

Rare Case of Endometrial Stromal Sarcoma with Omental Metastasis in a 19-Year-Old Girl

Extrauterine endometrial stromal sarcoma (ESS) is a rare entity and typified by delayed recurrence of primary ESS. Here, we present an unusual case of uterine ESS in a woman with a history of hysterectomy. A 19-year-old girl underwent hysterectomy and bilateral salpingo-oophorectomy for uterine ESS 12 months ago, and now after remaining disease-free for 9 months ago she was presented with ascites along with pelvic and peritoneal mass. Intraoperatively, large omental mass was found and optimal cytoreduction with total omentomy (supracolic and infracolic), total peritonectomy and hyperthermic intraperitoneal chemotherapy (HIPEC) was offered to the patient. Final histopathology report showed involvement of only omentum by ESS cells. IHC and receptor study was done, and it was positive for CD-10 and desmin and negative for CK-7. This case highlights the rarity of extrauterine ESS in the omentum with a known history of primary uterine ESS which was treated successfully with the above-mentioned procedure, though active and long-term surveillance is recommended to monitor for late recurrences.

Primary extrauterine endometrial stromal sarcoma: Located in pelvic and abdominal tissue and arising in endometriosis

Primary extrauterine endometrial stromal sarcoma is a rare tumor and it is infrequently associated with endometriosis. We are reporting a case of this unusual tumor in a 42-year-old female who presented with multiple nodules of tumor in the abdomen and pelvis and with metastases in para-aortic lymph nodes. The right parametrium, in addition, had a focus of endometriosis, which was contiguous with the tumor, confirming its origin.

A Case of Extrauterine Endometrial Stromal Sarcoma in the Colon Diagnosed Three Decades after Hysterectomy for Benign Disease

Extrauterine endometrial stromal sarcoma (ESS) is rare and typified by delayed recurrence of primary ESS. Here, we report an unusual case of colonic ESS in a woman with a remote history of hysterectomy. An 80-year-old woman, with a history of hysterectomy and bilateral salpingo-oophorectomy for abnormal bleeding and endometriosis 37 years prior to presentation, was diagnosed with ESS in the colon. She was treated with laparoscopic low anterior resection, followed by megestrol acetate, and has been in remission for more than 4 years. This case highlights the rarity of extra-uterine ESS in the colon, especially in the absence of a known history of primary uterine ESS. The patient's history of endometriosis may have been a predisposing risk factor. ESS in the colon may be treated successfully with surgical resection and progestin therapy. Indefinite surveillance is recommended to monitor for late recurrences.

JAZF1 and JJAZ1 gene fusion in primary extrauterine endometrial stromal sarcoma

Endometrial stromal sarcoma predominantly occurs as a primary tumor of the uterus. The most common cytogenetic abnormality in these tumors is t(7;17)(p15;q21), which occurs in 33% to 80% of cases and results in a JAZF1-JJAZ1 gene fusion. Rare cases of primary extrauterine endometrial stromal sarcoma have been reported, but it remains uncertain whether the genetic features of uterine endometrial stromal sarcoma are also characteristic of extrauterine tumors. The present study evaluates the prevalence of the t(7;17)(p15;q21) and JAZF1-JJAZ1 gene fusion in a series of 6 cases of primary extrauterine endometrial stromal sarcoma. Conventional nested reverse transcriptase-polymerase chain reaction was performed using primers complementary to sense and antisense JAZF1 and JJAZ1 sequences. Interphase fluorescence in situ hybridization was performed to detect t(7;17)(p15;q21) using a break-apart strategy for both JAZF1 and JJAZ1. In one of the 6 extrauterine endometrial stromal sarcoma cases, JAZF1-JJAZ1 fusion transcripts were detected by reverse transcriptase-polymerase chain reaction. The same case showed evidence of both JAZF1 and JJAZ1 rearrangements by interphase fluorescence in situ hybridization. The remaining 5 cases were negative for the t(7;17)(p15;q21) by both reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization analysis. These findings demonstrate that the t(7;17)(p15;q21) and associated JAZF1-JJAZ1 fusion transcripts are present in only a subset of primary extrauterine endometrial stromal sarcoma. Although molecular testing for the t(7;17)(p15;q21) and associated gene fusion may be useful for confirming primary extrauterine endometrial stromal sarcoma, the low prevalence of the genetic aberration limits the clinical utility of the testing.

Primary extrauterine endometrial stromal sarcoma: response to hormone therapy

Endometrial stromal sarcomas (ESS) of the uterus are hormone-sensitive tumors. There have been reports in the literature confirming the regression of ESS with progestins, gonadotropin analogues, and aromatase inhibitors. We report a case of primary extrauterine ESS of the rectovaginal septum (RVS), which was poorly responsive and, in fact, progressed on progestin therapy. The question arises: is the evident lack of response to oral progestin in our case an exception or a trend more commonly seen in primary extrauterine, extraovarian ESS? To the best of our knowledge, there has been no report in the literature to address this question. Therefore, we conducted a review of the literature to evaluate the response of these tumors to hormone therapy in relation to their estrogen and progesterone receptor status.

Extrauterine endometrial stromal sarcoma with JAZF1/JJAZ1 fusion confirmed by RT-PCR and interphase FISH presenting as an inguinal tumor

Endometrial stromal sarcomas are rare malignant mesenchymal tumors that usually develop in the uterine corpus and occasionally arise at various extrauterine sites. This report describes the first case of primary extrauterine endometrial stromal sarcoma arising in the extraperitoneal portion of the round ligament presenting as a solitary inguinal mass in a 46-year-old woman. The patient presented gradually growing tumor in the right inguinal region. Local tumor resection was performed and no recurrence or metastasis was found at 15 months after the operation. Histological examination revealed that the tumor comprised uniform, spindle-shaped cells with blunt nuclear figure and scattered small arteries, and infiltrated into adjacent tissue. No endometriosis was morphologically identified in the lesion. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor, progesterone receptor, alpha-smooth muscle actin, and calponin. We confirmed JAZF1/JJAZ1 fusion by reverse transcription-polymerase chain reaction and the corresponding chromosomal translocation by interphase fluorescence in situ hybridization on paraffin sections. It is essential that the inguinal region should be recognized as a possible primary site of endometrial stromal sarcoma, and the detection of a JAZF1/JJAZ1 fusion can be useful when the diagnosis is not confirmed by microscopic observation or immunohistochemistry for the tumor arising in extrauterine sites.

Endometrial stromal tumor with limited infiltration and probable extrauterine metastasis: report of a case

Endometrial stromal nodule (ESN) is a tumor composed of cells closely resembling those of the endometrial stroma with minimal cytologic atypia. The most important criterion for the differential diagnosis from the endometrial stromal sarcoma (ESS) is a well-defined noninfiltrative expansile border. However, the definition of the ESN also includes a tumor with the presence of focal irregularities or fingerlike projections of the margin into the adjacent myometrium, none of which exceeds 2 to 3 mm. In some cases, however, it is difficult to differentiate marginal irregularities of ESN from "true invasion" of ESS. We described a case of extrauterine ESS that was associated with small intramyometrial stromal lesions with limited infiltration. The intramyometrial lesion could be definitionally categorized as ESNs. However, peritumoral fibroblastic band and inflammatory stromal reactions, irregular fingerlike projections, and multiple concurrent extrauterine ESS strongly suggested that these were small primary focus of ESS mimicking ESN. We propose that the patient with endometrial stromal tumor with limited infiltration should be more carefully followed than the usual ESN for possible metastasis and that a hysterectomy with meticulous histological examination of the specimen be performed before a diagnosis of primary extrauterine ESS is made, even in a case showing a grossly or radiologically normal uterus.

Primary Extrauterine Endometrial Stromal Neoplasms

We present the results of a clinicopathologic study of 20 patients with primary extrauterine endometrial stromal sarcoma (ESS). The sites of the primary neoplasm and the number of patients with sufficient follow-up for survival analysis are as follows: ovary (three of four), fallopian tube (one of one), pelvic cavity (six of eight), abdominal cavity (five of six), and retroperitoneum (one of one). Evaluation of all patients included the mitotic index (MI) and cytologic atypia. Thirteen of the sixteen patients eligible for survival analysis had tumors with an MI < 10 and would be classified as low-grade stromal sarcomas in the Norris and Taylor scheme. Eight (62%) of the 13 had one or more relapses; of these, three died of disease at 35, 108, and 120 months, respectively, and another patient was alive with disease at 96 months. The other four patients who were treated after a relapse showed no evidence of disease after relapse at 36, 57, 63, and 146 months, respectively. Two of the 13 patients had tumor considered unresectable at the time of diagnosis; both died of disease at 5 and 10 months, respectively. Neither MI nor cytologic atypia were predictive of tumor recurrence or death from tumor. We also extracted clinical and morphologic data from all previous reports of primary extrauterine ESS, combined them with our 20 patients, and then compared the combined group with 17 cases of primary high-stage uterine ESS we presented in an earlier report. Not surprisingly, the behavior of the primary extrauterine ESS was more reminiscent of high-stage primary uterine ESS than low-stage primary uterine ESS.