Genetic variation of YWHAE gene-"Switch" of disease control / 中南大学学报(医学版)

YWHAE gene is located on chromosome 17p13.3, and its product 14-3-3epsilon protein belongs to 14-3-3 protein family. As a molecular scaffold, YWHAE participates in biological processes such as cell adhesion, cell cycle regulation, signal transduction and malignant transformation, and is closely related to many diseases. Overexpression of YWHAE in breast cancer can increase the ability of proliferation, migration and invasion of breast cancer cells. In gastric cancer, YWHAE acts as a negative regulator of MYC and CDC25B, which reduces their expression and inhibits the proliferation, migration, and invasion of gastric cancer cells, and enhances YWHAE-mediated transactivation of NF-κB through CagA. In colorectal cancer, YWHAE lncRNA, as a sponge molecule of miR-323a-3p and miR-532-5p, can compete for endogenous RNA through direct interaction with miR-323a-3p and miR-532-5p, thus up-regulating K-RAS/ERK/1/2 and PI3K-AKT signaling pathways and promoting the cell cycle progression of the colorectal cancer. YWHAE not only mediates tumorigenesis as a competitive endogenous RNA, but also affects gene expression through chromosome variation. For example, the FAM22B-YWHAE fusion gene caused by t(10; 17) (q22; p13) may be associated with the development of endometrial stromal sarcoma. At the same time, the fusion transcript of YWHAE and NUTM2B/E may also lead to the occurrence of endometrial stromal sarcoma. To understand the relationship between YWHAE, NUTM2A, and NUTM2B gene rearrangement/fusion and malignant tumor, YWHAE-FAM22 fusion gene/translocation and tumor, YWHAE gene polymorphism and mental illness, as well as the relationship between 17p13.3 region change and disease occurrence. It provides new idea and basis for understanding the effect of YWHAE gene molecular mechanism and genetic variation on the disease progression, and for the targeted for the diseases.

Low-grade Endometrial Stromal Sarcoma with Unusual Metastasis to the Skull

Background Endometrial stromal sarcomas (ESSs) are the second most common uterine sarcomas. Although ESSs are often indolent, they have metastatic potential. To the best of our knowledge, there are only three reports of brain metastasis, and the present report is the first to describe a late skull metastasis of an ESS. Case Report We describe the case of a 51-year-old woman who presented abnormal vaginal bleeding 14 years ago; she was diagnosed with an uterine mass and submitted to a hysterectomy. One year ago she presented ESS lung metastasis followed by a left parietal calvarial metastasis. The optimal treatment for metastatic ESS is controversial, but the use of progesterone and aromatase inhibitors is advisable.

Introdução Sarcoma endometrial estromal (SEE) é a segunda lesão mais frequente dentre os sarcomas uterinos. Geralmente são lesões indolentes, mas com potencial de desenvolver metástase. Até o momento há apenas três relatos de metástase cerebral, sendo este o primeiro estudo a descrever uma metástase craniana tardia dessas lesões. Relato de caso Nós descrevemos o caso de uma paciente de 51 anos de idade que apresentou há 14 anos um quadro de sangramento vaginal anormal, sendo diagnosticada uma massa uterina; a paciente foi submetida a uma histerectomia. Há um ano ela evoluiu com metástase pulmonar, seguida por metástase craniana parietal esquerda. O tratamento ideal do SEE metastático ainda é controverso, mas o uso de inibidores de aromatase é aconselhável.

Endometrial Stromal Sarcomas: a clinico-pathological analysis of 27 patients

To evaluate clinico-pathological features and prognostic valuses of Endometrial stromal sarcomas [ESS] through comparison of the two grade groups [low- and high-grade disease]. We retrospectively analyzed the medical records of 27 patients who were diagnosed with ESS at a single institute between March 1988 and November 2009. Our retrospective chart review was approved by our local institutional Review Board [IRB]. The median age of the patients was 44.0 years, the median follow-up period was 101.0 months and the 10-year survival rate was 74.2%. The median uterine weight was 215.0 gm. Twenty-three [70.4%] and four patients [29.6%] had low- and high-grade disease, respectively. As primary treatment, twenty-four [70.4%] and three patients [11.1%] underwent type I hysterectomy and type III hysterectomy, respectively. Total six cases were recurred and two cases of the six-recurred patients were distant metastasis [lung] and four cases were died of the disease. Univariate analysis revealed that the histologic grade and the uterine tumor weight were significantly related with longer disease-free survival [p=0.025 and 0.043 respectively]. ESSs with high-grade or larger tumor size have to be carefully and sufficiently managed, because of its rarity and aggressive behavior. To determine the proper adjuvant treatment of ESS with high risks, further clinical data should be collected and studied

Sonographic Findings of Uterine Endometrial Stromal Sarcoma

OBJECTIVE: The study was performed to present the sonographic findings of uterine endometrial stromal sarcoma (ESS). MATERIALS AND METHODS: We conducted a retrospective review of sonographic findings of 10 cases that were diagnosed as uterine ESS. The patients' ages ranged from 25 to 51 years (mean age: 36.1 years). The reviews focused on the location, margin, size, number and echotexture of the lesions. Hysterectomy (n = 9) and myomectomy (n = 1) were performed and a pathologic diagnosis was obtained in all cases. RESULTS: The masses were located in the uterine wall (n = 6), or they presented as a polypoid mass protruding into the endometrial cavity from the myometrium (n = 3) or as a central cavity mass (n = 1). The lesion margins were smooth (n = 5), ill defined (n = 2), or smooth with partially nodular extensions (n = 3). The maximal mass length was 38 mm to 160 mm with a mean mass length of 83.5 mm. There were single lesions in eight cases and multiple lesions in two cases. The lesion echotextures were hypoechoic solid (n = 3), heterogeneously intermediate echoic (n = 5), diffuse myometrial thickening with heterogeneous echogenicity (n = 1) and septated cystic (n = 1). CONCLUSION: Endometrial stromal sarcoma presents with four patterns of its sonographic appearance; a polypoid mass with nodular myometrial extension, an intramural mass with an ill defined margin and heterogeneous echogenicity, an ill defined large central cavity mass or, diffuse myometrial thickening.

Pulmonary Metastases of Uterine Endometrial Stromal Sarcoma: Diffuse Micronodular and Ground Glass Opacities: A Case Report

Pulmonary metastases of uterine endometrial stromal sarcoma (ESS) are un com-mon. The patterns of uterine ESS metastasis to the lung are multiple pulmonary nodules, single nodule, or cystic lesions. Pulmonary intraalveolar micronodular metastases of uterine ESS are unusual and have not been reported. We experienced a case of metastatic uterine ESS presenting as pulmonary diffuse micronodules with ground glass opacities on chest computed tomography of a 37-yr-old woman who previously underwent hysterectomy due to low grade ESS of the uterus four years ago. The histologic findings of video assisted thoracotomy biopsy showed numerous intraalveolar polypoid micronodules protruding from the alveolar septums. All tumor nodules were composed of short spindle cells arranged in ill-defined whorls, and nuclear feature and sparse cytoplasm were seen in uterine ESS. Immunohistochemically, these cells showed strong nuclear staining for estrogen receptor and progesterone receptor, and diffuse cytoplasmic staining for CD10.

Endometrial Stromal Sarcoma of the Sigmoid Colon Arising in Endometriosis :A Case Report with a Review of Literatures

Most of malignant tumors arising in ovarian and extraovarian endometriosis are carcinomas. Mixed mullerian tumor and endometrial stromal sarcoma arising in intestinal endometriosis are rarely described, but its clinicopathologic features have not been well characterized. Here we report a case of endometrial stromal sarcoma of the sigmoid colon arising in endometriosis with a review of six additional cases of endometrial stromal sarcoma arising in intestinal endometriosis found in English literatures. The patients ranged in age from 36 to 64 yr. Presenting symptoms were pain, bloody diarrhea, and tenesmus. Some patients had a previous history of endometriosis. Most of the tumors arose in the rectosigmoid colon. The histologic features were the same as their uterine counterpart. No death of disease had been reported. This rare tumor should not be confused with gastrointestinal stromal tumor clinically and histologically.

Uterine endometrial stromal sarcoma with rhabdoid and smooth muscle differentiation

Uterine and extrauterine tumors composed of cells featuring endometrial stromal cells often show ovarian sex cord-like structures and smooth muscle differentiation. A few cases of endometrial stromal tumors showing rhabdoid differentiation have been reported. The present case is a 20-year-old woman with endometrial stromal sarcoma that had sex cord-like structures, smooth muscle components and rhabdoid differentiation.