Endometrial stromal tumors: A clinico-histomorphological spectrum of endometrial stromal tumors with review of literature.

BACKGROUND: Endometrial stromal tumors (ESTs) are rare subset of mesenchymal uterine neoplasms. There are heterogeneous morphological, immunohistochemical, and genetic features. Approximately 50% of ESTs occur in perimenopausal women. In 2020, WHO sub-categorized ESTs into four groups: endometrial stromal nodule (ESN), low-grade endometrial stromal sarcoma (LGESS), high-grade endometrial stromal sarcoma (HGESS), and undifferentiated uterine sarcoma (UUS). OBJECTIVE: To review the morphological spectrum of endometrial stromal tumors. METHOD: This retrospective study reviewed the histomorphological features of 15 endometrial stromal tumors with respect to atypia, necrosis, mitosis, collagen bands, whorling around vessels, myometrial invasion, and inflammatory cells. Immunohistochemistry markers (CD10, SMA, and ER) along with special stains (Masson's trichrome, toluidine blue) were also studied. RESULTS: The age of the patients ranged from 32 to 60 years. Three patients were postmenopausal. The most common presenting symptom was vaginal bleeding. Five patients were operated with a clinical diagnosis of uterine fibroid. One patient presented with prolapse with no other complaint. All the 15 patients had total abdominal hysterectomy and salpingo-oophorectomy. One case showed necrosis, eight cases showed collagen bands, all the 15 cases showed whorling around vessels, one case showed vascular emboli, and seven cases showed inflammatory cells. In low-grade cases, one case showed focal atypia and one case showed focal coagulative necrosis indicating infarction. Thirteen cases were LGESS, and one case of ESN and HGESS. All cases were positive for ER and CD10. CONCLUSION: Endometrial stromal tumors demonstrate extensive permeation of the myometrium as irregular islands with frequent vascular invasion, whorling around vessels, collagen bands, and inflammatory cells. All these features should be observed thoroughly on microscopy by pathologists to clearly differentiate the low-grade and high-grade endometrial stromal tumors, and to understand the overlapping gray areas morphologically as it affects the prognosis of the patient.

An Unusual Endometrial Stromal Neoplasm With JAZF1-BCORL1 Rearrangement.

Endometrial stromal tumors represent the second most common category of uterine mesenchymal tumors. Several different histologic variants and underlying genetic alterations have been recognized, one such being a group associated with BCORL1 rearrangements. They are usually high-grade endometrial stromal sarcomas, often associated with prominent myxoid background and aggressive behavior. Here, we report an unusual endometrial stromal neoplasm with JAZF1-BCORL1 rearrangement and briefly review the literature. The neoplasm formed a well-circumscribed uterine mass in a 50-yr-old woman and had an unusual morphologic appearance that did not warrant a high-grade categorization. It was characterized by a predominant population of epithelioid cells with clear to focally eosinophilic cytoplasm growing in interanastomosing cords and trabeculae set in a hyalinized stroma as well as nested and fascicular growths imparting focal resemblance to a uterine tumor resembling ovarian sex-cord tumor, PEComa, and a smooth muscle neoplasm. A minor storiform growth of spindle cells reminiscent of the fibroblastic variant of low-grade endometrial stromal sarcoma was also noted but conventional areas of low-grade endometrial stromal neoplasm were not identified. This case expands the spectrum of morphologic features seen in endometrial stromal tumors, especially when associated with a BCORL1 fusion and highlights the utility of immunohistochemical and molecular techniques in the diagnosis of these tumors, not all of which are high grade.

A Case of Uterine Tumor Resembling Ovarian Sex Cord Tumor With Prominent Myxoid Features.

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare tumor with low malignant potential that commonly occurs in middle age. Although more than 100 cases have been reported to date, myxoid morphology is not well documented. Here, we present a 75-yr-old woman with abnormal vaginal bleeding, with an 8-cm mass in the uterine corpus detected by irregular, high-intensity signaling on T2-weighted imaging. The uterine mass had a glistening mucinous appearance on gross examination. Microscopically, most of the tumor cells were floating in the myxoid stroma. The tumor cells formed clusters or nests with abundant cytoplasm, while some exhibited trabecular or rhabdoid appearances. Immunohistochemically, tumor cells were positive for pancytokeratin (AE1/AE3), α-smooth muscle actin, CD10, progesterone receptor, and some sex cord markers such as calretinin, inhibin, CD56, steroidogenic factor-1. Electron microscopy demonstrated epithelial and sex cord differentiation. This tumor was negative for JAZF1-JJAZ1 fusion gene that is frequently found in low-grade endometrial stromal sarcoma. Fusion genes related to UTROSCT, including NCOA2/3 , were not detected by reverse transcription polymerase chain reaction. The present case suggests that UTROSCT should be included in the differential diagnosis of myxoid uterine tumors.

Nódulo del estroma endometrial: Reporte de un caso infrecuente / Endometrial stromal nodule: A rare case report

Introducción: Los tumores del estroma endometrial representan menos del 2% de los tumores uterinos, estando dentro de las neoplasias menos comunes del cuerpo uterino. Se pueden dividir en cuatro categorías principales: nódulo del estroma endometrial, sarcoma del estroma endometrial de bajo grado, sarcoma del estroma endometrial de alto grado y sarcoma uterino indiferenciado. En el presente trabajo se describe el caso de un paciente con diagnóstico de nódulo del estroma endometrial. Caso clínico : Paciente femenino de 50 años de edad, quien refiere inicio de enfermedad en marzo de 2022, caracterizado por presentar sangrado uterino anormal anemizante y aumento de volumen abdominal, por lo que acude a facultativo foráneo, donde indican paraclínicos. Para el día 12 de julio de 2022, presentó dolor abdominal de aparición brusca de moderada a severa intensidad. Motivo por el cual acudió a nuestro centro. Se determina anemia y leucocitosis. Estudios de imagen reportan masa voluminosa, densidad mixta, bien delimitada. Otra lesión hiperecogénica, que corresponde a quiste unicameral de ovario derecho. Se decide resolución quirúrgica, mediante la realización de laparotomía exploradora más protocolo de endometrio, con evolución satisfactoria de la paciente. Conclusión : La histerectomía es el tratamiento de elección. El estudio anatomopatológico es fundamental para su diagnóstico final y diferenciación de los sarcomas estromales, ya que su pronóstico, tratamiento y seguimiento es diferente(AU)

Introduction: Endometrial stromal tumors represent less than 2% of uterine tumors, being among the least common neoplasms of the uterine body. They can be divided into four main categories: endometrial stromal nodule, low-grade endometrial stromal sarcoma, high-grade endometrial stromal sarcoma and undifferentiated uterine sarcoma. This paper describes the case of a patient with a diagnosis of endometrial stromal nodule.Clinical case : A 50-year-old female patient, who reported the onset of the disease in March 2022, characterized by abnormal uterine bleeding with anemia and increased abdominal volume, for which she went to a foreign physician, where they indicated paraclinical tests. On July 12, 2022, he presented abdominal pain of sudden onset of moderate to severe intensity. Which is why she came to our center. Anemia and leukocytosis are determined. Imaging studies report a voluminous mass, mixed density, well delimited. Another hyperechoic lesion, which corresponds to a unicameral cyst of the right ovary. Surgical resolution was decided by performing an exploratory laparotomy and endometrial protocol, with satisfactory evolution of the patient.Conclusion : Hysterectomy is the treatment of choice. The anatomopathological study is fundamental for its final diagnosis and differentiation of stromal sarcomas, since its prognosis, treatment and follow-up are different(AU)

Intususcepción gastroduodenal como presentación de un tumor del estroma gastrointestinal gástrico / Gastroduodenal intussusception as a presentation of gastric gastrointestinal stromal tumor

Objetivo Presentar un caso de GIST con presentación clínica poco usual. Caso clínico Presentamos una paciente de género femenino, de 70 años, con 5 días de dolor en hemiabdomen superior y vómitos; se le diagnóstica por TC de abdomen y pelvis con contraste una intususcepción gastroduodenal. Se ingresa a pabellón; confirmando diagnóstico, se realiza gastrectomía subtotal más Y de Roux. La biopsia diferida con inmunohistoquímica confirma un GIST gástrico con 2 mitosis cada 50 campos. Se decide manejo conservador y control anual con endoscopia digestiva alta. Buena evolución.

Aim To present a case of GIST with unusual clinical presentation. Case report We present a 70-year old female patient with 5 days of upper abdominal pain and vomiting, being diagnosed with a gastroduodenal intussusceptions by contrasted CT scan. She was admitted to the operating room, confirming the diagnosis and a subtotal gastrectomy with Roux-en-Y reconstruction was performed. A deferred biopsy with immunohistochemical confirmed GIST with 2 mitoses/50 high-powerfields. Conservative management was proposed and annual control with upper endoscopy decided. Satisfactory evolution.

Tumores mesenquimales diagnosticados en la unidad de gastroenterología del HMPC entre los años 2007 aL 2009 / Mesenchymal tumors diagnosed in the gastroenterology unit of HPMC from 2007 to 2009

Se evaluaron las historias médicas con diagnóstico de tumores mesenquimales confirmados por análisis inmunohistoquímico entre los años 2007 y 2009. El objetivo fue describir a la población según características clínicas, epidemiológicas, diagnósticos por imágenes y análisis anatomopatológico. Se obtuvieron 11 pacientes con diagnósticos de GIST(7), Leiomiomas(2), GANT(1) y Leiomiosarcoma(1). Del género femenino (82%) y masculino (18%). Con un promedio de 55 años de edad. Clínicamente presentaron dolor abdominal (45%), mareos (27%), pirosis (9%) y disfagia (1%). El 18% permaneció asintomático. Entre los signos encontrados figuran: melena (36%), pérdida de peso (27%), palidez cutánea (9%) y vómitos (9%). El 36% de los pacientes no presentaron hallazgos al examen físico. Se realizó ultrasonido abdominal en el 100% de los pacientes, con hallazgos patológicos relacionados con el tumor en el 27 % de los casos. Al 90% de los pacientes se les realizó una Endoscopia Digestiva Superior, el 82% de los hallazgos se describieron como Tumores Submucosos y 9% se reportó como normal. Las lesiones se ubicaron en el estómago (60%), 27% en el intestino delgado ( duodeno y yeyuno); 9% en esófago y 9% en retroperitoneo. El ultrasonido endoscópico fue practicado al 82% de los pacientes, con un porcentaje de aciertos diagnósticos en el 90% de los tumores localizados en esófago, estómago e intestino delgado, y de 87,5% si se incluye el tumor retroperitoneal. La Tomografía Computada (TC) de abdomen fue practicada en 45% de los pacientes, con hallazgos patológicos en el 100% de los casos, descritos como Lesiones Ocupantes de Espacio (LOE), en estómago, intestino, esófago y retroperitoneo; y en el 20% de los pacientes se encontró enfermedad metastásica hepática Recibieron tratamiento quirúrgico el 82%, el 18% restante no se realizó por contraindicación médica o se encuentran en espera del procedimiento. Y un 18% de los pacientes recibieron tratamiento médico con Imatinib...

We evaluated the clinical records with a diagnosis of mesenchymal tumors confirmed by immunohistochemical analysis, from 2007 to 2009. The objective was to describe the population according to clinical and epidemiological features, diagnostic imaging and histopathological analysis. We found 11 patients with diagnoses of GIST(7), leiomyoma(2), leiomyosarcoma(1) and GANT(1); (82%) female and (18%) male, with a mean age of 55 years. They clinically presented abdominal pain (45%), dizziness (27%), heartburn (9%) and dysphagia (1%). 18% remained asymptomatic. Among the symptoms were: melena (36%), weight loss (27%), paleness (9%) and vomiting (9%). 36% of the patients had no findings at physical examination. Abdominal ultrasound was performed in 100% of the patients, with pathological findings related to the tumor in 27% of cases. In 90% of patients an upper digestive endoscopy was performed. 82% of findings were described as submucosal tumors and 9% was reported as normal. Lesions were located in stomach (60%); 27% in small bowel (duodenum and jejunum), 9% in esophagus and 9% in retroperitoneum. Endoscopic ultrasound was performed to 82% of patients, with a diagnostic accuracy of 90% for the tumors located in esophagus, stomach and small bowel; and 87,5% if the retroperitoneal tumor is included. The abdomen Computed Tomography (CT) was performed in 45% of patients with pathological findings in 100% of the cases, described as Space occupying lesion (SOL) in stomach, intestine, esophagus and retroperitoneum; and, in 20% of patients metastatic liver cancer was found. 82% received surgical treatment, the remaining 18% was not performed due to contraindication or are waiting for the procedure. And 18% of patients received medical therapy with Imatinib...

Adenocarcinoma endometrial concomitante con tumor estromal benigno del endometrio / Endometrial carcinoma concomitant with endometrial stromal tumor benign

La asociación de tumor epitelial y estromal maligno es muy infrecuente, habiendo pocos casos reportados, más infrecuente aún es la asociación de tumor epitelial maligno y tumor estromal benigno. Se presenta el caso de mujer de 65 años con diagnóstico preoperatorio de carcinoma endometrial, que durante el procesamiento de la pieza quirúrgica se encontró además una lesión intramural nodular estromal benigna, sin continuidad entre ambas lesiones.

The association of epithelial and stromal malignant neoplasm is very rare, with few reported cases, rarer still is the prescence of malignant epithelial tumor and stromal benign tumor. We present the case of women aged 65 with preoperative diagnosis of endometrial carcinoma, which in the pathological examination was found an intramural benign endometrial stromal lesión, without continuity between both tumors.

InmunohistoquÍmica en Tumores Estromales Intestinales / Inmunohistochemistry in intestinal stromal tumors

Se seleccionaron 19 muestras de tumores intestinales recibidas en el departamento y centro de Referencia Nacional de Anatomía Patológica del Hospital clínico quirúrgico de post-grado “Hermanos Ameijeiras”, que respondían desde el punto de vista histológico presuntivo a tumores fusocelulares, posibles GISTs (Gastrointestinal stromals tumors), con el objetivo de estudiarlos según características generales e inmunofenotípicas, comparándolos con los resultados obtenidos en la literatura mundial. Se encontró un predominio de lesiones entre los pacientes del sexo masculino 11/19, en las edades de 51 a 70 años. La localización más frecuente fue intestino delgado, presentándose dos casos en mesenterio y dos en recto (localización infrecuente para los GITSs.) Histológicamente se comprobó la variedad celular y el arreglo de las mismas predominando el patrón estoriforme. Los resultados del estudio inmunofenotípico fueron: Inmunofenotipo: Vim 16/19, Ene 7/19, S-100 5/19, Sinaptofisina y Cromogranina 0/19, Desmina 1/19, Alfa actina 3/19, p-53 0/19, k-67 2/19 (sin respuesta significativa), CD-34 y CD-117(c-kit) 19/19, estos últimos marcadores diagnósticos definitivos, también en nuestra casuística. Predominó la diferenciación nerviosa según la respuesta inmunofenotípica (12 casos)