Endometrial Stromal Sarcoma Arising in Colorectal Endometriosis.

The malignant transformation of endometriosis is very uncommon. Whereas 75% of tumors arising from endometriosis arise in the ovary, location in extra-genital organs is rare and mesenchymal neoplasms are exceptional. A 47 year-old woman who underwent hysterectomy with bilateral salpingo-ooforectomy due to endometriosis 13 years before presented with abdominal pain. The magnetic resonance imaging (MRI) showed a 9.7×7.5 cm solid-cystic supravesical mass and a recto-vaginal tumor, as well as endometriotic nodules in the sigma, right parametrium and peritoneum that had significantly increased in size over a six months period. The patient underwent surgical resection of the masses. The histological study showed a low-grade endometrial stromal sarcoma (ESS) arising from endometriosis located at recotovaginal septum and affecting colonic wall and multiple peritoneal and pelvic implants. The patient received radiotherapy and aromatase inhibitors and is free of disease after a follow up of 2 years. Only 15 cases of ESS arising in endometriosis of the bowel have been reported. Tumor dissemination at diagnosis is unusual but does not imply a poor prognosis, as only one patient has died due to progression of the tumor. ESS should be included in the differential diagnosis of mesenchymal neoplasms in the intestine.

Primary vaginal endometrial stromal sarcoma associated with endometriosis: a case report with a review of the literature.

Extrauterine endometrial stromal sarcomas (ESSs) are quite rare tumors, and vagina is an unusual site for these tumors. This paper presents a very rare pathological entity of primary vaginal ESS. A 46-year-old woman with a complaint of postcoital vaginal bleeding, low abdominal pain, and constipation was admitted to the clinic. She had a mass of seven cm in size, located in the posterior fornix detected on physical examination. The preoperative biopsy showed ESS, surgical material, and evaluation of an endometrium confirmed the diagnosis of primary vaginal ESS. She underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, and partial vaginectomy. The diagnosis of ESS performed by pathologic and immunohistochemical evaluation was: caldesmon (-), actin (-), desmin (-). CDIO (+), ER (+), PR (+), and vimentin (+). There was no ESS lesion in the endometrium. The patient was free of tumor for 22 months after the surgery without any additional therapy. In this study, the authors report the sixth case of primary vaginal ESS in the literature and aim to discuss diagnostic criteria and management protocols in the light of the literature.

Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation.

Endometrial stromal sarcomas (ESS) are genetically heterogeneous uterine tumors in which a JAZF1-SUZ12 chimeric gene resulting from the chromosomal translocation t(7;17)(p15;q21) as well as PHF1 rearrangements (in chromosomal band 6p21) with formation of JAZF1-PHF1, EPC1-PHF1, and MEAF6-PHF1 chimeras have been described. Here, we investigated two ESS characterized cytogenetically by the presence of a der(22)t(X;22)(p11;q13). Whole transcriptome sequencing one of the tumors identified a ZC3H7-BCOR chimeric transcript. Reverse transciptase-PCR with the ZC3H7B forward and BCOR reverse primer combinations confirmed the presence of a ZC3H7-BCOR chimeric transcript in both ESS carrying a der(22)t(X;22) but not in a control ESS with t(1;6) and the MEAF6-PHF1 fusion. Sequencing of the amplified cDNA fragments showed that in both cases ESS exon 10 of ZC3H7B (from 22q13; accession number NM_017590 version 4) was fused to exon 8 of BCOR (from Xp11; accession number NM_001123385 version 1). Reciprocal multiple BCOR-ZC3H7B cDNA fragments were amplified in only one case suggesting that ZC3H7B-BCOR, on the der(22)t(X;22), is the pathogenetically important fusion gene. The putative ZC3H7B-BCOR protein would contain the tetratricopeptide repeats and LD motif from ZC3H7B and the AF9 binding site (1093-1233aa), the 3 ankyrin repeats (1410-1509 aa), and the NSPC1 binding site of BCOR. Although the presence of these motifs suggests various functions of the chimeric protein, it is possible that its most important role may be in epigenetic regulation. Whether or not the (patho)genetic subsets JAZF1-SUZ12, PHF1 rearrangements, and ZC3H7B-BCOR correspond to any phenotypic, let alone clinically important, differences in ESS remain unknown.

Endometrial stromal sarcoma arising from endometriosis: a clinicopathological study and literature review.

OBJECTIVES: We aimed to investigate the nature of endometrial stromal sarcoma (ESS) arising from endometriosis. METHODS: The clinical data of 5 patients with ESS arising from endometriosis were reviewed retrospectively. The expression of CD117, HER2/neu, EGFR, VEGF, and PDGFR was analyzed by immunohistochemical staining. RESULTS: The median age of the 5 patients was 45 years. The primary tumor sites were the ovary in 2, the pelvis in 2, and the cervical canal in 1 patient. Three patients had disseminated disease at diagnosis. Four patients underwent complete tumor resection. All of the 5 cases received adjuvant chemotherapy and 2 received progesterone therapy, while none were treated with radiotherapy. No recurrence occurred in the 4 cases who had complete tumor resection, and the only patient who progressed was the patient in whom the tumor was unresectable. Tumor cells in all cases exhibited positive staining for PDGFR and were negative for CD117 and HER2/neu. The expression of EGFR and VEGF was observed in 2 and 4 cases, respectively. CONCLUSION: ESS arising from endometriosis is rare. Complete tumor resection in ESS arising from endometriosis may reduce the recurrence rate.

Endometrial stromal sarcoma arising from endometriosis of the terminal ileum: the role of immunohistochemistry in the differential diagnosis.

Low-grade endometrial stromal sarcoma (LESS) is an uncommon uterine malignancy. Occasionally, it may develop in extrauterine endometriotic lesions and present morphological characteristics mimicking various neoplasms, making its diagnosis very challenging. We report a rare case of a 56-year-old woman presenting with a pelvic mass, initially presumed to be of ovarian origin. After surgical excision the diagnosis of a LESS arising from foci of endometriosis of the terminal ileum was established. Pelvic lymph nodes and omentum were also infiltrated. The patient received adjuvant chemotherapy and medroxyprogesterone; she is alive with no evidence of disease after a follow-up of 38 months. Immunohistochemical characteristics of the tumor are very important for the differential diagnosis of this rare neoplasm and include diffuse strong positivity for CD 10, estrogen receptor expression and CD 34 negativity.

High-grade endometrial stromal sarcoma in cesarean section scar isthmocele - case report.

OBJECTIVE: Cesarean section scar defect isthmocele, the pouchlike defect in the anterior uterine wall of the prior cesarean site. No previous report of malignant neoplasm in the isthmocele have been published. We reported a case of High-grade endometrial stromal sarcoma in isthmocele. CASE REPORT: A 45-year-old patient with gravida 4, parity 2, two previous cesarean section presents of recurrent heavy vaginal bleeding. Curettage and hormone therapy were unsuccessful. She underwent hysteroscopic isthmoplasty. The pathology revealed high-grade sarcoma. Patient was referred to a tertiary medical center and she underwent total hysterectomy with bilateral salpingo-oophorectomy, aortic & pelvic LNs dissection. The final diagnosis was High-grade endometrial stromal sarcoma (HG-ESS) stage IA (pT1a N0) involving isthmocele. CONCLUSION: The presence of this rare tumor in the isthmocele is very interested. We stress the necessity for a high degree of suspicion to diagnose the malignancy in perimenopausal women with isthmocele and persisted abnormal uterine bleeding.

The prognostic relevance of histological type in uterine sarcomas: a Cooperation Task Force (CTF) multivariate analysis of 249 cases.

PURPOSE OF INVESTIGATION: The objective of this retrospective multicenter study was to assess the prognostic relevance of histologic type in uterine sarcomas. METHODS: The hospital reports of 249 patients with uterine sarcomas were reviewed. Surgery was the initial therapy for all patients. Histologic type was leiomyosarcoma in 95 cases, low-grade endometrial stromal sarcoma (ESS) in 19, high-grade ESS in 34, and carcinosarcoma in 101. Postoperative treatment was given without well-defined protocols. Median follow-up of survivors was 97 months. RESULTS: In the whole series 2-year, 5-year, and 10-year survival rates were 53.5%, 41.6%, and 35.8%, respectively, and median survival was 31 months. At univariate analysis survival was significantly related to stage (p = 0.0001), mitotic count (p = 0.0001), and histologic type (low-grade ESS vs leiomyosarcoma vs carcinosarcoma vs high-grade ESS, median: not reached vs 27 months vs 21 months vs 16.5 months, p = 0.0011), but not to postoperative therapy and patient age. The Cox model revealed that tumor stage, mitotic count and histologic type were independent prognostic variables for survival. In detail, the risk of death was significantly lower for low-grade ESS (risk ratio [RR] = 0.257; 95% confidence interval [CI] = 0.071-0.931) and carcinosarcoma (RR = 0.509; 955 CI = 0.324-0.799) when compared to leiomyosarcoma. Conversely, no significant difference in survival was found between leiomyosarcoma and high-grade ESS. CONCLUSIONS: Histologic type is an independent prognostic variable for survival in uterine sarcomas. Low-grade ESS has the best clinical outcome, whereas leiomyosarcoma has the poorest one. It is noteworthy that, when adjusting for stage and mitotic count, leiomyosarcoma has a significantly worse prognosis than carcinosarcoma.

Trends in endometrial cancer incidence rates in the United States, 1999-2006.

BACKGROUND: Risk factors for endometrial cancer, such as hormone replacement therapy (HRT) and obesity, have changed significantly in the last decade. We investigated trends in endometrial cancer histologic subtypes on a national level during 1999-2006. METHODS: Data covering 88% of the U.S. population were from central cancer registries in the National Program of Cancer Registries (NPCR) and Surveillance, Epidemiology, and End Results (SEER) programs that met high-quality United States Cancer Statistics (USCS) criteria. Our analyses included females with microscopically confirmed invasive uterine cancer (n=257,039). Age-adjusted incidence rates and trends for all invasive uterine cancers and by endometrial cancer histologic subtypes (type I and II) were assessed. RESULTS: There were 145,922 cases of type I endometrial cancers and 15,591 cases of type II for 1999-2006. We found that type I endometrial cancers have been increasing, whereas type II endometrial cancers and all invasive uterine cancers have been relatively stable throughout the 1999-2006 period. CONCLUSIONS: During the past decade, the overall burden of uterine cancer has been stable, although there have been changes in underlying histologies (e.g., endometrial). Changes in trends for underlying histologies may be masked when reviewing trends irrespective of histologic subtypes. Our findings suggest the need to examine trends of uterine cancer by histologic subtype in order to better understand the burden of endometrial cancer in relation to these subtypes to help women at increased risk for developing more aggressive types of endometrial cancer (e.g., type II).

Reaction to a surgical implant foreign body masquerading as recurrent uterine sarcoma.

BACKGROUND: Multiple products to prevent adhesions or lessen the risk of soft tissue attachments are commercially available. The long-term nature of these products is unknown, and they may cause foreign body reactions masquerading as recurrent disease in patients with cancer. CASE: A perimenopausal female underwent a hysterectomy and placement of a surgical implant, polylactic acid. Final pathology revealed stage IA low-grade endometrial stromal sarcoma. Areas suspicious for recurrence were noted on radiographic imaging 1 year later, resulting in exploratory surgery. The suspicious areas were found to be foreign body reactions. Mass spectrometry identified the main component of the reactions as polylactic acid. CONCLUSION: Adhesion barriers and other surgical implants may not always be completely metabolized and should be used with caution in patients with cancer.

Primary extrauterine endometrial stromal cell sarcoma: a case and review.

BACKGROUND: Extrauterine endometrial stromal sarcoma (ESS) is a rare neoplasm. Little is known about its pathophysiology or best treatment approach. CASE: We are describing a case of extrauterine ESS in a 70-year-old woman on hormone replacement therapy and with a history of endometriosis. We also present a brief review of the literature on ESS and its relationship to endometriosis and hormonal therapy. CONCLUSIONS: Complete resection should remain the treatment of choice for ESS. Unresectable or metastatic low-grade ESS may respond well to progestin therapy, but outcomes of high-grade ESS tend to be poor.

A case of high-grade endometrial stromal sarcoma arising from endometriosis in the cul-de-sac.

This report describes a rare case of high-grade endometrial stromal sarcoma (ESS) arising from pathologically confirmed endometriosis in the cul-de-sac. A 37-year-old woman presented with irregular menstruation, pelvic pain, and diarrhea. Magnetic resonance imaging and colon biopsy suggested endometriotic nodule of the cul-de-sac. The tumor size was reduced with hormonal therapy, and the residual tumor was excised, resulting in the pathologic diagnosis of endometriosis. Two years later, a soft mass reappeared with rapid growth. Tumor extraction was performed, and the histopathologic diagnosis was high-grade ESS. Neither hormonal therapy nor chemotherapy was effective, and the patient died 6 months postoperatively. ESS should be included in the differential diagnosis of malignant transformation of endometriosis.

Endometrial stromal sarcoma of the vagina.

Endometrial stromal sarcoma is a rare tumor and has unique histopathologic features. Most tumors of this kind occur in the uterus; thus, the vagina is an extremely rare site. A 34-year-old woman presented with endometrial stromal sarcoma arising in the vagina. No correlative endometriosis was found. Because of the uncommon location, this tumor was differentiated from other more common neoplasms of the vagina, particularly embryonal rhabdomyosarcoma and other smooth muscle tumors. Although the pathogenesis of endometrial stromal tumors remains controversial, the most common theory of its origin is heterotopic Müllerian tissue such as endometriosis tissue. Primitive cells of the pelvis and retroperitoneum are an alternative possible origin for the tumor if endometriosis is not present. According to the literature, the tumor has a fairly good prognosis compared with other vaginal sarcomas. Surgery combined with adjuvant radiotherapy appears to be an adequate treatment.

High-grade endometrial stromal sarcoma after treatment with tamoxifen in a patient treated for breast cancer.

Tamoxifen has been widely used in breast cancer treatment. In recent years, the occurrence of uterine malignancies in patients receiving long-term tamoxifen therapy has attracted attention. Most of these malignancies are endometrial adenocarcinomas, but low-grade endometrial stromal sarcomas have occasionally been reported. Here we report a woman who developed a high-grade endometrial stromal sarcoma after receiving postmastectomy tamoxifen therapy. The patient underwent a left mastectomy at age 45 and subsequently received oral tamoxifen for 3 years. At age 51, she was diagnosed with endometrial stromal sarcoma, for which a radical hysterectomy was performed. High-grade endometrial stromal sarcoma was diagnosed by postoperative histologic examination. Immunostaining for the estrogen receptor was negative in sarcoma cells, but positive in the residual endometrial epithelium and the nucleus of adjacent stromal cells within the tumor. The patient has now survived disease-free for 37 months after surgery.