Myxoid mixed low-grade endometrial stromal sarcoma and smooth muscle tumor of the uterus. Case report

We report the case of a 73-year-old female with myxoid mixed low-grade endometrial stromal sarcoma and smooth muscle tumor of the uterus. Grossly, the tumor sized 130 x 130 x 100 mm involved the uterine corpus almost in its entirety. Histologically, the tumor consisted of two cell types. In some areas, the tumor cells showed typical features of endometrial stromal tumors and resembled stromal cells of proliferative endometrium. In other areas, however, the tumor showed smooth muscle features and consisted of larger mostly epitheloid cells with a moderate amount of cytoplasm. In all areas, myxoid changes and multiple hyalinizing giant rosettes were present. The tumor infiltrated the myometrium in a pattern typical of low-grade endometrial stromal sarcoma. Immunohistochemically, the tumor cells showed expression of vimentin, estrogen and progesterone receptors and variable expression of CD10, α-smooth muscle actin, desmin, h-caldesmon, and cytokeratin AE1/AE3. Other markers examined including CD99, α-inhibin, cytokeratin CAM5.2, S-100 protein, and HMB45 were negative. To the best of our knowledge, mixed low-grade endometrial stromal and smooth muscle tumor with myxoid changes has not been described to date.     

Myxoid mesenchymal tumors of uterus: endometrial stromal and smooth muscle tumors, myxoid variant

Four myxoid variant of uterine mesenchymal tumors are reported. One was a low grade stromal sarcoma with infiltrative margins and the others were well circumscribed tumors corresponding to an endometrial stromal nodule and two leiomyomas. They were hypocellular neoplasms composed of stellated cells with an abundant Alcian Blue positive myxoid matrix. The myxoid nature of the neoplasms obscured their cellular nature and made the distinction between smooth muscle and endometrial stromal tumors difficult. Endometrial stromal tumors, showed very focal areas of small basophilic cells, characteristic of endometrial stroma. The diagnosis was based on the presence of a spiral arteriolar network, a CD10 positivity as well as the absence of h-caldesmon and desmin expression. The two myxoid leiomyomas showed more spindle cells and a desmin expression while h-caldesmon was negative and CD10 focally positive in both cases. Myxoid variant of endometrial stromal tumors does not necessarily exhibit the typical morphology of endometrial stroma. They may demonstrate morphological features of smooth muscle tumors in the uterus. Also, myxoid changes in uterin smooth muscle tumors may modify the classical immunoreactivity of smooth muscle markers in these tumors and make it difficult to distinguish between benign and malignant neoplasms. An immunohistochemical panel of antibodies including CD10, h-caldesmon and desmin may help in establishing the correct diagnosis.     

子宫内膜间质肉瘤9例临床病理分析

目的 探讨子宫内膜间质肉瘤(endometrial stromal sarcoma,ESS)的临床病理特征、诊断、鉴别诊断及预后.方法 对9例ESS患者进行临床、病理资料分析、免疫组化检测及随访.结果 患者年龄39～64岁,中位46.3岁.临床主要表现为阴道流血及子宫增大/占位.肿瘤直径2.3～11 cm,平均4.6 cm.光镜下8例呈低度恶性子宫内膜间质肉瘤(low grade endometrial stromal sarcoma,LGESS),均由类似增殖期子宫内膜间质肿瘤细胞构成,细胞密集,异型性不明显,呈不规则舌状或岛状浸润肌层,并伴较多薄壁螺旋小血管;1例为高度恶性子宫内膜间质肉瘤/未分化子宫内膜肉瘤(high grade endometrial stromal sarcoma/undifferentiated endometrial sarcoma,HGESS/UES),肿瘤细胞直接替代子宫肌层,具有明显的细胞异型性,无LGESS常见的螺旋小血管.免疫组化检测显示肿瘤细胞CD10、vimentin均阳性,PR、ER大部分阳性,SMA和desmin及h-Caldesmon为极少数局灶阳性,S-100、CD34均阴性.术后随访7例(平均53个月),只有1例HGESS/UES死亡.结论 ESS是女性生殖道很少见的一种恶性肿瘤,恶性度相差很大.确诊主要依靠其临床病理特点,并辅以免疫组化标记综合分析.诊断时要与子宫内膜间质结节、平滑肌肿瘤、低分化癌等鉴别.     

Uterine epithelioid endometrial stromal sarcoma presenting as a "cervical polyp"

Although appearance of conventional uterine endometrial stromal sarcoma is easily recognized on histology, it may uncommonly assume unusual appearances such as uterine tumor resembling ovarian sex-cord tumor, thereby hindering its diagnosis. Recently, its manifestation as an epithelioid neoplasm was described. In this report, we detail yet another instance where this tumor adopted an epithelioid morphology, presenting itself as a polyp extruding from the cervical os in a 41-year-old Chinese woman. Both the polypectomy and subsequent hysterectomy specimens revealed a predominant proliferation of CD10-negative, caldesmon-negative, and CD117-positive epithelioid cells set within a stroma containing vascular proliferation resembling endometrial stromal tumor. Areas of typical low-grade endometrial stromal sarcoma containing spindle cells that were focally positive for CD10 and negative for CD117 were present in close association with the epithelioid areas. The differential diagnoses and possible implication of CD117 positivity are discussed.     

Endometrial stromal sarcoma of the uterus with rhabdoid features

A case of endometrial stromal sarcoma of the uterus with rhabdoid features, occurring in a 57 year old woman is reported. Electron microscopy and immunohistochemistry revealed that the rhabdoid cells contained intermediate filaments which were positive for vimentin, cytokeratin, alpha-smooth muscle actin, and muscle specific actin, but not for myoglobin and desmin. This indicated that the tumor in this case differed somewhat from the three rhabdoid tumors and an endometrial stromal sarcoma with rhabdoid differentiation previously reported and that, therefore, these tumors were heterogeneous.     

Immunohistochemical profiling of cytokeratin expression by endometrial stroma sarcoma

Endometrial stromal sarcomas can be confused with several neoplasms because of their inconsistent and widely varied morphologic appearance and frequent immunohistochemical expression of a variety of antigens including cytokeratin. The resulting diagnostic challenge becomes problematic particularly in the diagnosis of metastases resulting from such tumors. Because of the sometime epithelioid appearance of the tumor cells and their expression of cytokeratin, the metastases may be misdiagnosed as poorly differentiated carcinoma. We therefore studied the profile of cytokeratin proteins expression in 17 cases of endometrial stromal sarcomas using a panel of antibodies including cytokeratin cocktail antibody (AE1/AE 3), CK5/6, CK7, CK14, CK16, Cam5.2 (CK8), CK19, CK20, and 34Ebeta12 (CK1, 5, 10, and 14). Of the 17 cases, 8 (47%) stained positive with the cytokeratin cocktail antibody (AE1/AE 3). Of the 8 cases with cytokeratin expression, 5 (63%) stained positive with CK19, and 3 of them stained positive with Cam5.2. The 3 cases that stained positive with Cam5.2 also expressed CK19. Of the 5 cases with CK19, 1 was focally positive for CK5/6, CK7, and 34Ebeta12. None of the cases expressed CK14, CK16, or CK20. These results show that CK19 is most commonly expressed cytokeratin in endometrial stromal tumors. Hence, the inclusion of CK19 in the panel of immunostains may help resolve the diagnostic confusion created by keratin expression in endometrial stromal sarcoma and may also help in the correct diagnosis of endometrial stromal sarcoma at extrauterine sites.     

Mixed endometrial stromal and smooth muscle tumor: Report of a case with focal anaplasia and early postoperative lung metastasis

A rare case of a mixed endometrial stromal and smooth muscle tumor arising in the uterus of a 74‐year‐old woman is reported. The patient underwent hysterectomy for an enlarging uterine mass, and a large intramural tumor, showing marked central hyaline necrosis with calcification, was found. The tumor consisted of an admixture of a low‐grade endometrial stromal sarcoma (ESS) and a fascicular proliferation of spindle cells suggesting smooth muscle differentiation, and a characteristic ‘star‐burst’ appearance was found. In the ESS region, there were a few small foci of anaplasia where large polygonal cells with atypical nuclei and abundant eosinophilic cytoplasm proliferated, and the proliferative activity was locally increased in these foci. A small metastatic nodule appeared in the lung nine months after the hysterectomy, and the resected metastatic lesion showed features of anaplastic spindle cell sarcoma which was immunoreactive for CD10 but not for smooth muscle markers. Mixed endometrial stromal and smooth muscle tumors should be regarded as malignant neoplasms with the potential for hematogenous metastasis, particularly when they contain foci of cellular anaplasia.     

Pulmonary synovial sarcoma with polypoid endobronchial growth: a case report, immunohistochemical and cytogenetic study

A rare case of primary pulmonary synovial sarcoma with polypoid endobronchial growth in a 42-year-old Japanese woman is described. Left upper sleeve lobectomy was performed for the polypoid tumor measuring 2.5 cm in the left major bronchus and the patient was treated with adjuvant chemotherapy. Three years later, a recurrent tumor was discovered. Microscopically, this tumor was characterized by a proliferation of oval to spindle-shaped cells arranged in sheets and fascicles and covered by the thin normal bronchial epithelium. Immunohistochemically, tumor cells were positive for vimentin, and focally positive for pancytokeratin recognized by AE1/AE3, cytokeratin 7 and epithelial membrane antigen. A chimera gene, SYT-SSX1, was detected. Recently, primary pulmonary synovial sarcoma is an increasingly recognized clinical entity; however, most of these tumors present as a parenchymal mass. The present case is a unique example of primary synovial sarcoma of endobronchial polypoid type. This case suggests that pulmonary synovial sarcoma might originate from bronchial submucosal stromal tissue.     

Low-grade periductal stromal sarcoma of the breast with myxoid features: Immunohistochemistry

A 52-year-old woman was admitted with a painful right breast tumor measuring more than 20 cm in largest diameter, which ulcerated the overlying skin. The lesion had appeared 4 years previously but the patient hesitated to seek medical care due to 'fear of cancer'. Microscopically, the tumor was composed of spindle cells that formed cuffs around multiple open tubules and ducts set in an abundant, myxoid stroma. The spindle cells had significant atypia with nuclear pleomorphism, occasional cytoplasmic vacuolation and moderate mitotic activity. The ducts and lobules surrounded by the proliferating tumor cells had minimal distortion, with a pericanalicular growth pattern devoid of the phyllodes pattern. The tumor had a multinodular growth pattern with coalesced and individual tumor nodules, the latter being found mostly at the periphery of the lesion. On immunohistochemistry the tumor cells were positive for smooth muscle actin, CD34, and vimentin, and focally positive for CD10. A diagnosis of low-grade periductal stromal sarcoma (PDSS) with myxoid features was established. PDSS is a distinct low-grade breast sarcoma, the appropriate diagnosis of which requires extensive tumor sampling and additional broad immunohistochemistry. PDSS should not be confused with other spindle cell breast tumors because they require different treatment.     

Myxoid variant of epithelioid leiomyosarcoma of the uterus.

A rare case of myxoid variant of epithelioid leiomyosarcoma of the uterus in a 76-year-old woman is reported. Palpation and computed tomography revealed an enlarged uterus. Total hysterectomy and bilateral salpingo-oophorectomy were performed, and a hemispheric tumor, measuring 2.7 x 2.5 x 1.8 cm, was found protruding into the uterine cavity of the upper uterine segment. The tumor contained a prominent myxoid stroma and epithelioid tumor cells, which were round and polygonal in shape and showed positive immunoreactivity for desmin and vimentin. High mitotic activity was observed in the tumor cells. Electron microscopic examination revealed bundles of filaments in the cytoplasm and fine reticular material in the extracellular matrix. Histochemically, the myxoid stroma contained abundant acid mucopolysaccharide. The tumor cells were considered to originate from smooth muscle cells, while the myxoid stroma expressed varying differentiation of uterine mesenchymal cells. The patient is currently well with no evidence of recurrence or metastasis one year after the operation.     

Dedifferentiated mixed stromal-smooth muscle tumor of the uterus. Report of a case

So-called dedifferentiation in mesenchymal neoplasms of the uterus is very rare. Among conventional low-grade stromal tumors only three cases of dedifferentiation were reported, whereas in mixed stromal-smooth muscle tumors the dedifferentiation was yet not described. Here we present such a case of low-grade mixed stromal-smooth muscle tumor with dedifferentiation. The tumor occurred in 52-years-old postmenopausal patient. The high-grade component representing a dedifferentiation showed morphology of undifferentiated sarcoma with myxoid change. The low-grade component with morphology of mixed stromal-smooth muscle tumor was limited to a few peripheral areas of the lesion. Immunohistochemically, the low-grade component showed typical positivity for CD10, estrogen receptor, progesterone receptor, and focal reactivity for myoid markers, whereas the dedifferentiated component expressed only vimentin, CD10 and estrogen receptor. This case demonstrates that low-grade mixed stromal-smooth muscle tumor of the uterus can dedifferentiate like a pure stromal tumor. It shows that extensive sampling/histological search may be needed for recognition of a minor component in a dedifferentiated tumor.     

Breakages at YWHAE,FAM22A,and FAM22B loci in uterine angiosarcoma: A case report with immunohistochemical and genetic analysis

Described herein is the first reported case of a uterine angiosarcoma with breakages at three loci, YWHAE (17p13), FAM22A (10q23) and FAM22B (10q22). A 62-year-old postmenopausal woman was found to have endometrial thickening of her uterus. An endometrial biopsy indicated a malignant, spindle cell neoplasm. A total hysterectomy with bilateral salpingooophorectomy was performed. Histologic examination of the uterine specimen showed a malignant tumor consisting of irregular rudimentary vascular channels and solid small nests diffusely infiltrating to the middle of the myometrial wall. The tumor cells were epithelioid, and displayed eosinophilic cytoplasm and vesicular nuclei in some areas of the tumor. Immunohistochemically, the tumor cells showed vascular differentiation; they were diffusely positive for CD31 and D2-40 but were negative for factor VIII and CD34. In the course of the procedure of differential diagnoses, we included fluorescence in situ hybridization analysis for detection of a FAM22B-YWHAE fusion gene resulting from t(10;17)(q22;p13), recently reported in a series of endometrial stromal sarcoma, and unexpectedly identified breakages at three loci, i.e. YWHAE (17p13), FAM22A (10q23) and FAM22B (10q22). Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma.     

Peritoneal washing cytology findings of disseminated myxoid leiomyosarcoma of uterus: report of a case with emphasis on possible differential diagnosis

We report the cytology findings of a rare case of myxoid leiomyosarcoma of the uterus with intraabdominal dissemination. The cytology showed uniformly dispersed spindly to polygonal "epithelioid" tumor cells focally linked by background matrix. Spindly tumor cells attaching to and radiating from branching capillary structures were also present. Occasionally, scattered "signet-ring" cells were found, mimicking metastatic poorly differentiated adenocarcinoma. The background mucoid substance was more conspicuous in the cell block sections. Gross and histologic examination of the surgical specimen revealed a large uterine leiomyosarcoma with prominent myxoid change. Ultrastructural study showed that the "signet-ring" appearance was mainly due to degenerative cytoplasmic change with ballooning of mitochondria, dilatation of endoplasmic reticulum, and elevation of outer nuclear membrane. In contrast to other spindle cell malignancies such as sarcomatoid mesothelioma, sarcomatoid carcinoma, or malignant melanoma, true sarcoma cells in general carry a distinctive cytologic appearance in washing/effusion fluid. In a correct clinical setting, the peculiar association with mucoid matrix and absence of classic lipoblasts should also raise the suspicion of metastatic myxoid leiomyosarcoma.     

Ultrastructure of mesodermal mixed tumor of the uterus.

A case of mesodermal mixed tumor arising in the uterus of a 57-year-old woman is presented. The tumor was a mixture of adenocarcinoma with occasional squamous metaplasia, stromal sarcoma, myxosarcoma and chondrosarcoma. Light and electron microscopic examinations of the tumor revealed close transition between stromal sarcomatous component and each of other sarcomatous and carcinomatous component. The histogenesis of mixed mesodermal tumor was discussed and it was concluded that the tumor might be derived from endometrial stromal cell which possessed the pluripotency to differentiate toward various epithelial and mesenchymal tissues including the heterologous mesenchymal tissue.     

Uterine tumors resembling ovarian sex-cord tumors producing parathyroid hormone-related protein of the uterine cervix

A case of uterine tumors resembling ovarian sex-cord tumors (UTROSCT) producing parathyroid hormone-related protein (PTH-rP) of the uterine cervix is reported. A 66-year-old woman underwent total hysterectomy with bilateral salpingo -oophorectomy due to the possibility of a malignant uterine tumor. A fairly well-circumscribed tumor, measuring 8 x 5 x 7 cm, was present in the myometrium of the cervix and extended into the endocervical mucosa. Histologically, the tumor showed predominantly sex-cord-like differentiation and the features of conventional endometrial low-grade stromal sarcoma were observed in part. Immunohistochemically, the tumor cells were negative for CD10. From these findings, we diagnosed the present case as Clement and Scully's group II UTROSCT arising from the uterine cervix. To our knowledge, this is the first report of the cervical occurrence of UTROSCT. Furthermore, in this tumor, production of PTH-rP was demonstrated by normalization of serum PTH-rP after the tumorectomy and immunoreactivity for PTH-rP in the tumor cells.     

ULTRASTRUCTURE OF MESODERMAL MIXED TUMOR OF THE UTERUS

A case of mesodermal mixed tumor arising in the uterus of a 57-year-old woman is presented. The tumor was a mixture of adenocarcinoma with occasional squamous metaplasia, stromal sarcoma, myxosarcoma and chondrosarcoma. Light and electron microscopic examinationsof the tumor revealed close transition between stromal sarcomatous component and each of other sarcomatous and carcinomatous component. The histogenesis of mixed mesodermal tumorwas discussed and it was concluded that the tumor might be derived from endometrial stromal cell which possessed the pluripotency to differentiate toward various epithelial and mesenchymal tissues including the heterologous mesenchymal tissue.     

High‐grade endometrial stromal sarcoma with smooth muscle and skeletal muscle differentiation: Report of a case with cytomorphologic and immunocytologic analysis

We report a case of high‐grade endometrial stromal sarcoma with cytological and immunocytochemical findings. Cytologically, major tumor cells showed round‐to‐short spindle shapes with round‐ to oval‐shaped nuclei and moderately abundant delicate cytoplasm. Tumor cells with tapered shapes and eccentric nuclei were also observed. A few spindle cells having enlarged cigar‐shaped nuclei with conspicuous nucleoli and delicate wispy cytoplasm, which resembled leiomyosarcoma, were intermingled. One rhabdomyoblast cell with both α‐sarcomeric muscle actin and myoglobin was also observed. Most of the tumor cells, including the leiomyosarcomatous spindle cells, were positive for CD10, and negative for desmin and h‐caldesmon. Accordingly, when relatively monotonous round‐to‐short spindle tumor cells and taper‐shaped tumor cells are observed in the female genital tract, high‐grade endometrial stromal sarcoma should be considered in the differential diagnosis. Immunocytochemistry contributed to the correct diagnosis. This case was high‐grade endometrial stromal sarcoma with smooth muscle and skeletal muscle differentiation. Diagn. Cytopathol. 2010. © 2010 Wiley‐Liss, Inc.     

Low-grade endometrial stromal sarcoma presenting as vaginal nodule

Endometrial stromal sarcoma is a rare neoplasm of the uterus. Extrauterine locations of this neoplasm, excluding metastases or local extension, are even more unusual and are usually associated with the presence of endometriosis. The authors report a case of endometrial stromal sarcoma presenting as a vaginal wall nodule, without any sign of primary uterine tumor after extensive evaluation or presence of endometriosis. The morphology, immunohistochemical profile, differential diagnoses, and pathogenesis are discussed, as well as a review of the literature on this issue.     

Soft tissue myoepithelioma,a rare tumor. A case report

Myoepithelioma of soft tissues is a rare and under-recognized tumor. We report a case of a myoepithelioma arising in the soft tissue of the wrist in a 37-year-old man. This 3cm, nodular, well circumscribed tumor consisted of a mixture of spindle and epithelioid cells in a fibrous or focally myxoid stroma. Nuclear atypia were mild and mitotic activity was 1 mitotic figure per 10 high-power fields. No tubular epithelial structure was found. The tumoral cells expressed cytokeratin (KL1) and S-100 protein. Smooth muscle actin and desmin were negative. The excision was complete. At 5 months, no recurrence was noted. Myoepithelioma of deep soft tissue has a predilection for extremity involvement. It has to be differentiated from extraskeletal myxoid chondrosarcoma, parachordoma and synovial sarcoma. Most of myoepitheliomas are benign. However, metastasis may occur in a minority of cases.