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.     

Aspiration biopsy cytology of metastatic endometrial stromal sarcoma and extragenital mixed mesodermal tumor

Aspiration biopsy from metastatic tumors in two cases of endometrial stromal sarcoma and one case of endometrial adenosarcoma revealed malignant endometrial stromal cells with ill-defined cytoplasm and round or oval hyperchromatic nuclei showing irregular chromatin clumping and conspicuous nucleoli. They were seen mainly in clusters. Aspirate from a metastatic tumor of a mixed mesodermal tumor arising from the omentum showed similar malignant endometrial stroma cells, irregular tight clusters of malignant glandular cells having scanty but well-defined cytoplasm and vesicular nuclei with conspicuous nucleoli, and fragments of atypical smooth muscle tissue. The diagnostic malignant endometrial stromal cells in those reported cases did not display any distinctive cellular features permitting their cytologic identification. They were difficult to differentiate from those of other types of sarcoma. In a clinical setting, with a known primary endometrial stromal sarcoma or mixed mesodermal tumor, however, a cytodiagnosis of its metastases may be suggested when malignant endometrial stromal-cell-like cells are seen in aspirated material, oviating an open-tissue biopsy.     

Synovial sarcoma presenting as a lung mass and diagnosed by cytology

Synovial sarcoma is a common soft tissue sarcoma with variable fibrous and epithelial differentiation that rarely arises from other body sites, such as within the lung. A case of a 68‐year‐old male with an extensive smoking history who presented with chest pain and a primary, central, metabolically active lung mass was reported. The mass was biopsied by bronchial brushing, bronchoalveolar lavage (BAL), and transbronchial fine‐needle aspiration (FNA). Cytologic analysis of bronchial brushing, BAL, and FNA revealed single and clusters of atypical spindle cells, oval, or spindle‐shaped nuclei with smooth nuclear membranes, hyperchromatic and granular chromatin, scant to moderate and delicate cytoplasm, a high degree of mitotic figures, and a lack of necrosis. Immunohistochemical studies showed that the tumor cells were positive for CD99, BCL2, and CK7. A diagnosis of synovial sarcoma was rendered. The differential diagnosis of primary pulmonary synovial sarcoma is discussed, including neuroendocrine tumors, squamous cell carcinoma, and various sarcomatous tumors. Diagn. Cytopathol. 2016;44:434–437. © 2016 Wiley Periodicals, Inc.     

Cytological features of basal cell adenocarcinoma of the salivary glands

The cytological features of basal cell adenocarcinoma (BAC) of the salivary gland, a rare carcinoma, have not been well described. This study included patients who were histopathologically diagnosed with BAC and who underwent preoperative fine‐needle aspiration cytological examination. Cytological characteristics, including background, arrangement and shape of the neoplastic cells, nuclear and cytoplasmic features, and presence of stromal spindle cells, were reviewed. Seven patients were enrolled in the study. The cytological specimens were cellular and composed of large or small clusters with occasional discohesive neoplastic cells at the periphery. The predominant cellular morphology was spindle‐shaped in four cases, and small round‐shaped in three cases. These neoplastic cells were tightly packed, showed high cellularity and overlapping nuclei, and had mildly to moderately enlarged round to oval nuclei with occasional small nucleoli and scant cytoplasm. Stromal spindle cells were observed around the basaloid cells in three cases (42.9%). All histology‐proven stromal spindle cell‐positive cases had stromal spindle cells in the cytological specimens. The study findings clearly demonstrate the relatively high frequency of stromal spindle cells in cytological specimens of BAC. This finding is characteristic of BAC, although basal cell adenoma of salivary gland frequently has stromal spindle cells in the cytological specimens. The characteristic that differentiates BAC from basal cell adenoma is the presence of tightly packed and high cellular clusters with discohesive neoplastic cells. An understanding of these cytological features can aid the cytodiagnosis of BAC.     

Low-grade endometrial stromal sarcoma with intracardiac extension. Evolution of extensive smooth muscle differentiation and usefulness of immunohistochemistry for its recognition and distinction from intravenous leiomyomatosis.

This case, a rare example of low-grade endometrial stroma sarcoma with extensive smooth muscle differentiation which extended to the inferior vena cava and cardiac chambers closely resembling intravenous leiomyomatosis grossly and microscopically, illustrates the importance of extensive sectioning and the usefulness of immunohistochemistry. Although spindle cell components arranged in interlacing bundles consistent with smooth muscle differentiation were recognizable in the primary tumor (on retrospective review), extensive smooth muscle differentiation in the recurrent tumors masked prototypical morphologic features of stromal sarcoma and only small neoplastic stromal components were preserved in limited areas, leading to initial failure to distinguish the lesion from intravenous leiomyomatosis. The immunophenotyping disclosed two distinct cell populations in the tumor: i.e. vimentin-positive and smooth muscle marker negative stromal cells, and vimentin-negative spindle-shaped desmin-positive smooth muscle cells. Our observation suggests that the predominance of a smooth muscle component in such a tumor can be misleading and does not always warrant a diagnosis of intravenous leiomyomatosis, nor does it predict a benign clinical course. This case also provides an insight into the relationship of the endometrial stroma and myometrium, and their cell of origin and the histogenesis of endometrial stromal sarcoma.     

Role of fine needle aspiration cytology in the diagnosis of a rare case of a poorly differentiated synovial sarcoma with “Rhabdoid” features,including treatment implications

Synovial sarcoma is a high‐grade, soft tissue sarcoma that is relatively chemosensitive. Its exact diagnosis is crucial, including differentiation from its closest diagnostic mimic, ie, Ewing sarcoma, in view of different treatment options, including chemotherapy regimens, for both these tumors. A 15‐year‐old girl presented with a recurrent soft tissue mass in her right popliteal region, which was diagnosed as Ewing sarcoma, based on positive immunoexpression of MIC2/CD99, Fli1 and negative expression of LCA and desmin. During her metastatic “work‐up”, a popliteal lymph node was identified, which was aspirated and examined. Fine needle aspiration cytology smears showed singly scattered and loose, cohesive clusters of cells containing round to polygonal, to short spindle‐shaped nuclei with prominent nuclei, and moderate to abundant cytoplasm, including several “rhabdoid” cells. These features prompted a review of the biopsy of the recurrent tumor, and additional immunohistochemical stains, which revealed positive co‐expression of pan cytokeratin (AE1/AE3), epithelial membrane antigen (EMA), along with a characteristic variable staining pattern of INI11/SMARCB1. Subsequently, by fluorescent in situ hybridization (FISH) technique, performed on the paraffin section of the recurrent tumor, 100% tumor nuclei displayed SS18 rearrangement, while none of the tumor cells displayed EWSR1 rearrangement. Diagnosis of poorly differentiated SS with “rhabdoid” features was confirmed. This constitutes as the first case, describing cytopathologic features of a poorly differentiated SS with “rhabdoid” features, initially misdiagnosed as a Ewing sarcoma, on biopsy and confirmed as SS by FISH technique. The diagnostic and treatment implications in this case are discussed herewith. Diagn. Cytopathol. 2017;45:662–667. © 2017 Wiley Periodicals, Inc.     

Malignant uterine perivascular epithelioid cell tumor: histopathologic and immunohistochemical characterization of a rare tumor in a post-menopausal woman

Background: Perivascular epithelioid cell tumors (PEComas) are rare, mesenchymal neoplasms composed of epithelioid cells exhibiting myogenic and melanocytic differentiation. The uterus is an infrequent site of involvement. The most common histopathologic mimics include leiomyosarcoma, endometrial stromal sarcoma, undifferentiated uterine sarcoma, and malignant melanoma. Rendering an accurate histopathologic diagnosis is essential, owing to the prognostic and therapeutic implications. Case: A 65-years-old post-menopausal woman presented with post-menopausal bleeding, abdominal pain, and heaviness for the last four months. Ultrasound abdomen revealed a large uterine mass replacing the endometrial cavity. She underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy. Result: Microscopically, a circumscribed tumor with tumor cells arranged in sheets and interlacing fascicles, with interspersed fine capillary network, was seen. The individual tumor cells were epithelioid to spindle with moderate pleomorphism, round nuclei, vesicular chromatin, prominent macronucleoli, and moderate cytoplasm. Mitosis was 2-3/50 HPFs. On immunohistochemistry, tumor cells were positive for HMB-45, Melan-A, and smooth muscle actin and were negative for h-caldesmon, TFE3, S-100, CD10, and pan-cytokeratin. Based on the histopathologic and immunohistochemical features, a final diagnosis of malignant uterine PEComa was rendered. Conclusions: This index report describes the characteristic histopathologic and immunohistochemical features of malignant uterine PEComa and highlights the salient features that distinguish it from other commonly encountered histopathologic mimics.     

低度恶性子宫内膜间质肉瘤临床病理分析

目的 探讨低度恶性子宫内膜问质肉瘤(LESS)的临床病理学特征、诊断和鉴别诊断。方法 分析17例LESS的临床病理特点,通过网织纤维染色、免疫组化染色和电镜观察来研究其病理学特征。结果 LESS临床上主要表现为阴道不规则流血。HE染色见肿瘤组织成巢团样浸润,肿瘤细胞圆形、卵圆形或梭形。肿瘤内有大量的小血管。网织纤维染色见网状纤维丰富,围绕瘤细胞生长。肿瘤细胞14例CD10阳性,12例ER阳性,13例PR阳性,3例actin阳性,C1934、CDll7、Melan—A肿瘤细胞均阴性。电镜观察见肿瘤细胞胞质内的中间丝呈杂乱无序的排列。结论 LESS易误诊,确诊主要依靠组织病理学和免疫组织化学;病理形态上看似良好的低度恶性子宫内膜间质肉瘤,预后不一定好。     

Nuclear features in endometrial cytology: Comparison of endometrial glandular and stromal breakdown and endometrioid adenocarcinoma grade 1

This study was to clarify the nuclear features of “condensed clusters of stromal cells (EGBD‐stromal cells)” and “metaplastic clumps with irregular protrusions (EGBD‐metaplastic cells)” which may be recognized in endometrial glandular and stromal breakdown (EGBD) cases in liquid‐based cytologic (LBC) preparations of endometrial brushings. The material consists of cytologic smears of 20 cases of proliferative endometrium (PE), 20 cases of EGBD, and 20 cases of endometrioid adenocarcinoma grade 1 (G1) for which histopathological diagnosis was obtained by endometrial curettage. Nuclear findings were examined in PE cells, EGBD‐stromal cells, EGBD‐metaplastic cells, and G1 cells, respectively. It was examined about the following items: (1) Nuclear shape; (2) A long/minor axis ratio in cell nuclei; (3) An area of cell nuclei; (4) Overlapping nuclei; (5) The distribution pattern of nuclei within cell clusters. The following observations were made: (1) In PE cells, round‐oval nuclei appeared to predominate, overlapping nuclei were not observed, and a slightly abnormal distribution pattern of nuclei was recorded; (2) In EGBD‐stromal cells, reniform nuclei were characteristically observed, nuclei had small size and a generally elongated appearance, overlapping nuclei were recognized, and a remarkable abnormal distribution pattern of nuclei was found; (3) In EGBD‐metaplastic cells, spindle nuclei were a characteristic feature, nuclei were larger in size and had a bipolar appearance, overlapping nuclei with moderately abnormal distribution pattern of nuclei were identified; (4) In G1 cells round‐oval nuclei predominated, overlapping nuclei with moderately abnormal distribution pattern of nuclei were found. The study demonstrates that the analysis of selected nuclear findings appears to be very useful in the cytopathological assessment of endometrial lesions in LBC samples, especially for the discrimination of EGBD and G1. Diagn. Cytopathol. 2012. © 2012 Wiley Periodicals, Inc.     

A case of uterine adenomyoma with bizarre smooth muscle cells mimicking leiomyosarcoma

We report a case of adenomyoma of the uterus that was cytologically difficult to distinguish from leiomyosarcoma. Examination of a uterine cervical smear revealed numerous spindle cells that were present in cell clusters or as isolated cells. These cells contained nuclei that were oval-shaped/elongated with nucleoli and delicate wispy cytoplasm. Large and bizarre nuclei were also identified. Based on these cytological findings leiomyosarcoma was considered: however, this diagnosis remained uncertain because of the absence of mitosis and/or necrotic substance. Histologically, we recognized leiomyomatous smooth muscle cells growing in a solid pattern and intermingled with endometrial-type glands. Moreover, bizarre smooth muscle cells were observed in the surface layer of the tumor. These observations suggest that for a diagnosis of uterine leiomyosarcoma the presence of mitosis and/or necrosis is important in addition to nuclear atypia.     

Pulmonary adenofibroma: Cytologic and clinicopathologic features of a rare benign primary lung lesion

We report a case of pulmonary adenofibroma in a 29‐year‐old female found by CT scan during work‐up for midline chest pain. To our knowledge, the cytological features of this entity have not been previously reported. Cytology demonstrated bland epithelial and stromal cells of varying size without karyorrhexis, pyknosis, or necrosis and with very rare mitoses. Stromal cells were present as either naked bipolar nuclei, as spindle cells with fragile eosinophilic cytoplasm, or as rare larger carrot shaped nuclei. Epithelial cells were present as small loosely cohesive groups with smooth round nuclei and moderate amounts of cytoplasm. Histologically, this lesion consisted of a leaf‐like fibroepithelial pattern in which the clefts were lined by a single layer of cuboidal epithelium reminiscent of adenofibroma occurring in the female genital tract. Immunohistochemical analysis demonstrated epithelium that stained positively for pan‐cytokeratin and TTF‐1. The stroma stained positively for vimentin and desmin, and was weakly positive for SMA‐1. The lesion was confirmed to be pulmonary adenofibroma with a smooth muscle component. The differential diagnosis for this lesion includes, but is not limited to, pulmonary hamartoma, pulmonary blastoma, adenomyofibroma, synovial sarcoma, and visceral metastases. It is important for cytopathologists to be aware of this benign entity because it can be encountered on lung FNA specimens. Considering this benign lesion in the differential diagnosis may help plan for minimal lung resection. Confirmatory intraoperative frozen section is a reasonable option. Diagn. Cytopathol. 2013;41:991–996. © 2012 Wiley Periodicals, Inc.     

Cytological features of atypical polypoid adenomyoma of the endometrium: A case report with literature review

Atypical polypoid adenomyoma (APA) is a rare mixed epithelial and mesenchymal tumor characterized histopathologically by the presence of disorganized hyperplastic glands with cytological atypia embedded in intersecting fascicles of fibromuscular stromal cells. Herein, we report the first documented endometrial cytological case of APA. A 35‐year‐old Japanese female presented with irregular menstrual cycles and then was found to have polypoid lesions of the endometrium. Cytological examination of the endometrium and endometrial curettage were performed. The Papanicolaou smear revealed the presence of abundant clusters of crowded glandular cells in a clean background. These clusters exhibited irregular branching and dilatation, and these glandular cells had mild to moderately enlarged round to oval nuclei. Within the dilated glands, metaplastic squamous cells (squamous morules) were observed. The most striking feature was the presence of short fascicles of the spindle cells without atypia around the dilated atypical glandular cell clusters with squamous morules. Histopathological and immunohistochemical examinations revealed a diagnosis of APA. Our report demonstrates that the characteristic cytological feature suggestive of APA is the presence of short fascicles of the spindle cells without atypia surrounding dilated atypical glandular cell clusters with squamous morules in a clean background, and their appearance can allow cytologists/cytopathologists to consider APA in differential diagnosis in the endometrial cytological specimens. Diagn. Cytopathol. 2017;45:345–349. © 2016 Wiley Periodicals, Inc.     

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.     

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.     

Mesenchymale Uterustumoren

Uterine stromal neoplasms are classified into endometrial stromal nodules and stromal sarcomas, as well as undifferentiated sarcomas. The two former groups demonstrate identical histological composition, consisting of small monomorphous cells with scant cytoplasm and round nuclei and typically contain numerous arteriolar-type vessels. Stromal tumors are distinct from stromal nodules by virtue of their myometrial and vascular invasion. Undifferentiated sarcomas consist of polymorphic cells and lack any cytological similarity to the stroma of normal proliferative endometrium. There is no smooth or striated muscle differentiation. Adenosarcomas are mixed neoplasms with a low grade stromal sarcoma component containing benign glands, which are surrounded by condensed neoplastic stroma. Typical uterine tumors resembling ovarian sex cord tumors (UTROSCT Type2) show predominant sex cord differentiation in a well circumscribed nodule. Focal sex cord differentiation may occur in stromal nodules and stromal sarcomas (UTROSCT Type2).     

Hepatic endometriosis diagnosed by liquid‐based cytology: A Case Report

A 44‐year‐old woman presented to Emergency Department with sudden onset of severe upper abdominal pain. T2‐weighted MRI image showed a large cystic mass with a thickened wall measuring 9.5 × 9.1 × 11.2 cm in the right hepatic lobe. It was radiologically interpreted as a cystic mass with differential diagnosis including echinococcal cyst, biliary cystadenoma, and malignant neoplasm. The cystic mass was intraoperatively aspirated and a liquid‐based cytology preparation (ThinPrep) and a cell block were made. The ThinPrep slides showed three dimensional clusters of epithelioid cells with scant delicate cytoplasm and tissue fragments composed of small stromal cells with round to oval shaped nuclei and a small amount of dense cytoplasm lined by the cuboidal epithelial cells. Occasional ciliated cells and abundant hemosiderin laden macrophages were also present. The cell block showed many tissue fragments containing glands and stroma with associated hemorrhage and hemosiderin laden macrophages, typical of endometrial tissue. Although it is uncommon, hepatic endometriosis should be considered in the differential diagnosis of cystic liver mass in women, especially those with a history of endometriosis or obstetric/gynecologic surgery. Diagn. Cytopathol. 2014;42:441–444. © 2013 Wiley Periodicals, Inc.     

Cytomorphologic features of low-grade endometrial stromal sarcoma

Endometrial stromal sarcomas are uncommon tumors of the uterus, and the cytologic features have only been reported in a number of case reports that mostly discuss the features of higher grade undifferentiated sarcomas. This article discusses the cytologic features of a large series of low-grade endometrial stromal sarcomas (ESSs) sampled by a variety of methods. We reviewed our histologic files for all confirmed cases of low-grade ESS, and followed this by a computerized search for any corresponding cytologic specimens. We identified 12 Papanicolaou tests and 9 nongynecologic specimens. Most cases showed moderate to marked cellularity with a combination of single cells and stromal fragments. Blood vessels, interspersed between the clusters of stromal cells, were seen in 15 cases; 4 of these had supporting hyaline matrix. The cells were predominantly spindle shaped with scant to moderate cytoplasm, round to ovoid nuclei, and fine chromatin. Mitotic figures and nucleoli were rare. Most cases had a clean background.     

子宫上皮样平滑肌瘤的临床病理观察

目的 探讨子宫上皮样平滑肌瘤(epithelioid leiomyoma，EL)的临床病理特征和生物学特性。方法 收集14例子宫EL的临床和病理资料。随机抽取同期l0例子宫低度恶性间质细胞肉瘤作为对照。采用二步法进行actin、Des、EMA和CDl0免疫组化染色。结果 子宫EL临床表现无特征性。镜下显示肿瘤细胞呈类似上皮细胞样的圆形、卵圆形或多边形，核呈圆形或卵圆形，胞质嗜伊红染色或部分伴空泡化改变似核周晕，也可表现为富含糖原的透明细胞。平均核分裂象0～1个10HPF。14例EL的actin、Des全部阳性表达，EMA9例阳性，CDl0有2例呈弱阳性。l0例子宫低度恶性间质细胞肉瘤actin、Des、EMA和CDl0分别有5例、3例、2例和7例阳性表达。结论 子宫EL有特殊的病理形态特征；免疫组化有助于鉴别诊断。     

Uterine endometrial stromal sarcoma with smooth muscle and glandular differentiation

This report describes a uterine tumour exhibiting areas of both endometrial stromal and smooth muscle differentiation. There was extensive intravascular permeation within the myometrium as well as extrauterine vascular involvement. The endometrial stromal component had a myxoid appearance and the smooth muscle component exhibited the typical features of intravenous leiomyomatosis. An additional feature was the presence of numerous benign endometrial-type glands within the neoplasm. In many areas a "zoning" phenomenon was present, with endometrial glands surrounded by endometrial stroma, which was in turn surrounded by smooth muscle. This unique combination of endometrial glands, endometrial stroma, and smooth muscle has, to the best of our knowledge, not been described previously and adds to the morphological spectrum of mixed endometrial stromal-smooth muscle tumours. This report discusses the differential diagnosis of this lesion, which has been designated a low grade endometrial stromal sarcoma with smooth muscle and glandular differentiation.