scholarly journals Fusion genes in gynecologic tumors: the occurrence, molecular mechanism and prospect for therapy

2021 ◽  
Vol 12 (8) ◽  
Author(s):  
Bingfeng Lu ◽  
Ruqi Jiang ◽  
Bumin Xie ◽  
Wu Wu ◽  
Yang Zhao
Keyword(s):  
Tumor Progression ◽  
Massively Parallel Sequencing ◽  
Gynecologic Cancer ◽  
Endometrial Stromal Sarcoma ◽  
Driver Mutations ◽  
Fusion Genes ◽  
Stromal Sarcoma ◽  
Uterine Tumors ◽  
Rearrangement Mechanism ◽  
Gynecologic Tumors

AbstractGene fusions are thought to be driver mutations in multiple cancers and are an important factor for poor patient prognosis. Most of them appear in specific cancers, thus satisfactory strategies can be developed for the precise treatment of these types of cancer. Currently, there are few targeted drugs to treat gynecologic tumors, and patients with gynecologic cancer often have a poor prognosis because of tumor progression or recurrence. With the application of massively parallel sequencing, a large number of fusion genes have been discovered in gynecologic tumors, and some fusions have been confirmed to be involved in the biological process of tumor progression. To this end, the present article reviews the current research status of all confirmed fusion genes in gynecologic tumors, including their rearrangement mechanism and frequency in ovarian cancer, endometrial cancer, endometrial stromal sarcoma, and other types of uterine tumors. We also describe the mechanisms by which fusion genes are generated and their oncogenic mechanism. Finally, we discuss the prospect of fusion genes as therapeutic targets in gynecologic tumors.

scholarly journals Pleural Metastasis of High-Grade Endometrial Stromal Sarcoma With YWHAE Gene (17p13.3) Rearrangement, A Rare Case Report

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S41-S41
Author(s):  
A C Re ◽  
M Enrique ◽  
S Ren
Keyword(s):  
Case Report ◽  
Spindle Cell ◽  
Malignant Neoplasm ◽  
Endometrial Stromal Sarcoma ◽  
Low Grade ◽  
High Grade ◽  
Stromal Sarcoma ◽  
Uterine Tumors ◽  
Uterine Neoplasm ◽  
Left Pleural Effusion

Abstract Introduction/Objective Endometrial stromal sarcoma (ESS), a rare malignant neoplasm of endometrial stroma, accounts for less than 1% of all uterine tumors. High grade ESS (HGESS) is aggressive and commonly relapses even after surgical and neoadjuvant therapy. Abdominal and pelvic regions are common sites of metastasis, however, distant metastases to the liver, lung, vertebrae, and brain have been reported. Methods/Case Report We encountered a 49-year-old female who presented with shortness of breath, found to have a left pleural effusion and multiple pleural masses. She initially presented three years ago with heavy irregular menses and left pelvic pain for one year. D&C revealed prominent small spindle cells for which a stromal nodule and low-grade or malignant process was probable. CT scan showed an enlarged uterus. Hysterectomy with bilateral salpingo- oophorectomy, bilateral pelvic and para-aortic lymph node dissection, and partial omentectomy were performed. The uterus revealed an intramural 7 cm mass with a serpiginous growth pattern and lymphovascular invasion. Tumor cells were plump to spindled with areas of high cellularity, rounded nuclei, increased atypia and mitosis. Atypical areas were positive for cyclin D1, focally positive for CD10, and negative for ER, PR, SMA, desmin, AE1/3 and CAM5.2. FISH studies showed rearrangement of YWHAE gene (17p13.3) and no rearrangement of JAZF1 or PHF1 gene regions. Findings supported the diagnosis of HGESS. The patient received post-operative chemotherapy. Biopsy of the current pleural lesion revealed a nonspecific malignant spindle cell neoplasm positive for BCL1, CD56, CD117, CD99, TLE1 and INI1, while negative for AE1/3, CAM5.2, EMA, ER, PR, CK5/6, calretinin, SMA, desmin and S100. The CD10 stain was inconclusive. FISH studies showed rearrangement of YWHAE gene (17p13.3) and no rearrangement involving JAZF1 or PHF1 gene regions. No rearrangement of the SS18 gene region was observed and synovial sarcoma was excluded. Overall findings support the diagnosis of metastatic HGESS. Results (if a Case Study enter NA) NA Conclusion HGESS, a rare tumor with a nonspecific immunostain profile, has the ability to metastasize to rare body sites, such as the pleura in our case. Display of spindle cell morphology is a nonspecific finding that raises broad differential diagnoses. In women, with or without a history of uterine neoplasm, HGESS is a clinically worthwhile diagnosis to be mindful of.

Gynecologic Cancer InterGroup (GCIG) Consensus Review for High-Grade Undifferentiated Sarcomas of the Uterus

2014 ◽  
Vol 24 (Supp 3) ◽  
pp. S73-S77 ◽  
Author(s):  
Patricia Pautier ◽  
Eun Ji Nam ◽  
Diane M. Provencher ◽  
Anne L. Hamilton ◽  
Giorgia Mangili ◽  
...  
Keyword(s):  
Gynecologic Cancer ◽  
Endometrial Stromal Sarcoma ◽  
Progression Free Survival ◽  
Low Grade ◽  
High Grade ◽  
Abdominal Girth ◽  
Endometrial Stroma ◽  
Systematic Lymphadenectomy ◽  
Stromal Sarcoma ◽  
Gynecology And Obstetrics

AbstractHigh-grade undifferentiated sarcomas (HGUSs) are rare uterine malignancies arising from the endometrial stroma. They are poorly differentiated sarcomas composed of cells that do not resemble proliferative-phase endometrial stroma. High-grade undifferentiated sarcomas are characterized by aggressive behavior and poor prognosis. Cyclin D1 has been reported as a diagnostic immunomarker for high-grade endometrial stromal sarcoma with an YWHAE-FAM22 rearrangement. YWHAE-FAM22 endometrial stromal sarcomas (ESS) represent a clinically aggressive subtype of ESS classified as high-grade endometrial sarcomas, and its distinction from the usual low-grade ESS with JAZF1 rearrangement and from HGUS with no identifiable molecular aberration may be important in guiding clinical management. Median age of the patients is between 55 and 60 years. The most common symptoms are vaginal bleeding, abdominal pain, and increasing abdominal girth.Disease is usually advanced with approximately 70% of the patients staged III to IV according to the International Federation of Gynecology and Obstetrics classification. Preferential metastatic locations include peritoneum, lungs, intra-abdominal lymph nodes, and bone. Median progression-free survival ranged from 7 to 10 months, and median overall survival ranged from 11 to 23 months. There is no clear prognostic factor identified for HGUS, not even stage. The standard management for HGUS consists of total hysterectomy and bilateral salpingo-oophorectomy. Systematic lymphadenectomy is not recommended. Adjuvant therapies, such as chemotherapy and radiotherapy, have to be discussed in multidisciplinary staff meetings.

scholarly journals Disseminated Endometriosis and Low-Grade Endometrioid Stromal Sarcoma in a Patient with a History of Uterine Morcellation for Adenomyosis

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Daniel P. Stefanko ◽  
Ramez Eskander ◽  
Omonigho Aisagbonhi
Keyword(s):  
Uterine Cavity ◽  
Endometrial Stromal Sarcoma ◽  
Unintended Consequence ◽  
Low Grade ◽  
Shared Decision ◽  
Patient Counseling ◽  
Stromal Sarcoma ◽  
Uterine Tumors ◽  
History Of ◽  
Pathologic Processes

Morcellation of benign uterine tumors allows for removal of the tumors via minimally invasive laparoscopic procedures. However, in rare cases, morcellation has been associated with upstaging of unexpected malignancies. Morcellation has also been associated with dissemination of benign pathologic processes such as endometriosis and leiomyomas. Endometrial stromal sarcoma typically arises in the uterine cavity, although cases of extrauterine endometrioid stromal sarcoma arising out of foci of endometriosis have been reported. Dissemination of endometrial stromal sarcomas can be an unintended consequence of morcellation procedures, as can dissemination of endometriosis, from which endometrioid stromal sarcomas can arise. Herein, we report a case of a 55-year-old woman who was found to have disseminated endometriosis and low-grade endometrioid stromal sarcoma, with bowel and liver parenchymal metastasis, 7 years after undergoing supracervical hysterectomy with unconfined uterine morcellation for adenomyosis. Our case highlights the potential for malignant transformation of disseminated adenomyosis/endometriosis and the importance of patient counseling and shared decision-making prior to morcellation procedures.

Gynecologic Cancer InterGroup (GCIG) Consensus Review for Mullerian Adenosarcoma of the Female Genital Tract

2014 ◽  
Vol 24 (Supp 3) ◽  
pp. S78-S82 ◽  
Author(s):  
Michael Leonard Friedlander ◽  
Alan Covens ◽  
Rosalind M. Glasspool ◽  
Felix Hilpert ◽  
Gunnar Kristensen ◽  
...  
Keyword(s):  
Genital Tract ◽  
Current Knowledge ◽  
Gynecologic Cancer ◽  
Female Genital Tract ◽  
Endometrial Stromal Sarcoma ◽  
Good Prognosis ◽  
Low Grade ◽  
High Grade ◽  
Stromal Sarcoma ◽  
Female Genital

Mullerian adenosarcomas of the female genital tract are rare malignancies, originally described in the uterus, the most common site of origin, but they may also arise in extrauterine locations. Uterine adenosarcomas make up 5% of uterine sarcomas and tend to occur in postmenopausal women. They are usually low-grade tumors and are characterized by a benign epithelial component with a malignant mesenchymal component, which is typically a low-grade endometrial stromal sarcoma but can also be a high-grade sarcoma. Tumors that exhibit a high-grade sarcomatous overgrowth have a worse outcome. Adenosarcomas have been described as being midway along the spectrum between benign adenofibromas and carcinosarcomas. They generally have a good prognosis with the exception of deeply invasive tumors or those with high-grade sarcomatous overgrowth. Extrauterine adenosarcomas also have a higher risk for recurrence. In view of their rarity, there have not been any clinical trials in mullerian adenosarcomas and relatively little research. This article reviews the current knowledge and provides recommendation for the management of mullerian adenosarcomas.

Endometrial Stromal Sarcoma Development after Hysterectomy and Tamoxifen Therapy

2008 ◽  
Vol 74 (8) ◽  
pp. 726-728
Author(s):  
D. Benjamin Christie ◽  
J. Daniel Day ◽  
Amy B. Moore ◽  
Jason R. Chapman ◽  
Don K. Nakayama ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Breast Carcinoma ◽  
Adjuvant Therapy ◽  
Endometrial Stromal Sarcoma ◽  
Tamoxifen Therapy ◽  
Endometrial Cell ◽  
Uterine Sarcomas ◽  
Stromal Sarcoma ◽  
Uterine Tumors

Tamoxifen therapy is well known for its success in adjuvant therapy for breast carcinoma; however, despite its benefits, the agents’ estrogenic influence on the uterus, and subsequent endometrial cell proliferation may result in development of invasive uterine tumors. It has been estimated that tamoxifen may increase the risk of endometrial-based cancer two- to threefold, but uterine sarcomas remain relatively rare, accounting for 2 to 5 per cent of all uterine malignancies. We report the case of a 72-year-old woman having received tamoxifen for a breast carcinoma and having a hysterectomy nearly 30 years prior who presented with an intra-abdominal, omentum-based mass that on excision was identified as an endometrial stromal sarcoma.

Rhabdomyosarcoma of the uterus: Report of two cases, including one of the spindle cell variant

2002 ◽  
Vol 12 (1) ◽  
pp. 128-132 ◽  
Author(s):  
W. G Mccluggage ◽  
T. F Lioe ◽  
H. R Mcclelland ◽  
H Lamki
Keyword(s):  
Skeletal Muscle ◽  
Spindle Cell ◽  
Stage Iv ◽  
Endometrial Stromal Sarcoma ◽  
Undifferentiated Sarcoma ◽  
Stromal Sarcoma ◽  
Uterine Tumors ◽  
Stage Iv Disease ◽  
Cell Variant ◽  
Short Time

Abstract.McCluggage WG, Lioe TF, McClelland HR, Lamki H. Rhabdomyosarcoma of the uterus: Report of two cases, including one of the spindle cell variant.Most uterine sarcomas fall into the category of leiomyosarcoma, endometrial stromal sarcoma, or undifferentiated sarcoma. Pure rhabdomyosarcomas are extremely rare, although a rhabdomyosarcomatous element may be present as a component of an adenosarcoma or carcinosarcoma (malignant mixed müllerian tumor). This report describes two uterine rhabdomyosarcomas in 28- and 67-year-old women. These were of spindle cell and pleomorphic types, respectively. At presentation the pleomorphic rhabdomyosaroma was stage IV, exhibiting massive pelvic and abdominal dissemination that mimicked an ovarian neoplasm. The spindle cell rhabdomyosarcoma was stage I, being confined to the uterus. Grossly, both uterine tumors had a polypoid appearance. Immunohistochemically, tumor cells were positive with the skeletal muscle markers sarcomeric actin, myoglobin, and myoD1. The patient with stage IV disease died within a short time of diagnosis and the other patient is alive and well at 2 years' follow-up. This report adds to the published literature on uterine rhabdomyosarcomas. This is the first reported uterine case of the spindle cell variant of embryonal rhabdomyosarcoma. Based on these cases and the published literature, rhabdomyosarcoma, especially the pleomorphic variant, appears to be a very aggressive neoplasm with an extremely poor prognosis. Immunohistochemical demonstration of skeletal muscle differentiation is necessary for a definitive diagnosis.

scholarly journals ENDOMETRIAL STROMAL SARCOMA PADA SERVIKS UTERI

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Poppy M. Lintong ◽  
Meilany F. Durry
Keyword(s):  
Abdominal Pain ◽  
Uterine Cervix ◽  
Histopathological Examination ◽  
Clinical Signs ◽  
Uterine Cavity ◽  
Endometrial Stromal Sarcoma ◽  
Pelvic Cavity ◽  
Stromal Sarcoma ◽  
Uterine Tumors ◽  
Exophytic Tumor

Abstract: Endometrial stromal sarcoma (ESS) is a rare malignant tumor, about 0.2% of all malignant uterine tumors. Around 75% of ESS cases occur in females under 50 years, with clinical signs such as abdominal pain and bleeding per vaginam. The uterus usually enlarges, associated with polypoid tumors protruding into the uterine cavity which can be misdiagnosed with a leiomyoma. ESS occurs in the cervix, ovarium, or retroperitoneal areas, and can be derived from endometriosis in the pelvic cavity. The immunohistochemical test of the tumor cells is positive for CD10, which is typical to differ it from a leiomyoma. We reported a case of ESS in a woman of 43 years old, with a clinical diagnosis of myoma geburt. She complained of abdominal pain and a mass that came out of her vagina. Post operation, she was diagnosed as having a cervical myoma. The macroscopic examination showed enlargement of uterus tissues 15x6x7 cm, thickened endometrium, and an exophytic tumor mass (8 cm) in the cervix, with cystic and necrotic parts in it. The microscopic examination showed endometrium hypertrophy in secretion phase, cervix with endometriosis, and ESS. ESS in uterine cervix is a rare case, and in this case it is related to endometriosis in the uterine cervix. Conclusion: This case was diagnosed as endometrial stromal sarcoma in the uterine cervix based on anamnesis, physical examination, histopathological examination, and immunohistochemistry positive for CD10.Keywords: endometrial stromal sarcoma, endometriosis, uterine cervixAbstrak: Endometrial stromal sarcoma (ESS) merupakan tumor ganas yang jarang terjadi, hanya 0,2 % dari semua tumor ganas di uterus. Sekitar 75% kasus terjadi pada wanita usia di bawah 50 tahun dengan gejala klinis nyeri perut dan perdarahan melalui jalan lahir. Uterus biasanya membesar disertai tumor polipoid menonjol dalam rongga uterus dan bisa disalah diagnosis sebagai leiomioma. ESS dapat terjadi juga di serviks uteri, ovarium, retroperitoneal, dan di rongga pelvis; dapat berasal dari endometriosis. Pemeriksaan imunohistokimia dari sel-sel tumor ESS yaitu positif untuk CD10, merupakan petanda tipikal untuk membedakannya dari leiomioma. Kami melaporkan kasus ESS pada seorang wanita berusia 43 tahun dengan keluhan nyeri perut dan adanya massa jaringan yang keluar dari jalan lahir. Diagnosis klinis ialah mioma geburt dan pasca operasi diduga sebagai mioma servikal. Pemeriksaan makroskopik menunjukkan jaringan uterus membesar berukuran 15x6x7 cm, dan pada serviks terdapat massa tumor berukuran 8 cm eksofitik, dengan fokus kistik dan nekrotik. Hasil pemeriksaan mikroskopik menunjukkan serviks dengan endometriosis dan ESS. Pemeriksaan imunohistokimia positif untuk CD10. ESS pada serviks uteri merupakan kasus jarang yang berkembang dari endometriosis serviks uteri. Simpulan: Pada kasus ini diagnosis ESS pada serviks uterus ditegakkan berdasarkan anamnesis, pemeriksaan klinis, pemeriksaan histopatlogik, dan imunohistokimia CD10 positif.Kata kunci: endometrial stromal sarcoma, endometriosis, serviks uteri

Gynecologic Cancer InterGroup (GCIG) Consensus Review for Endometrial Stromal Sarcoma

2014 ◽  
Vol 24 (Supp 3) ◽  
pp. S67-S72 ◽  
Author(s):  
Frédéric Amant ◽  
Anne Floquet ◽  
Michael Friedlander ◽  
Gunnar Kristensen ◽  
Sven Mahner ◽  
...  
Keyword(s):  
Recurrent Disease ◽  
Gynecologic Cancer ◽  
Hormonal Treatment ◽  
Endometrial Stromal Sarcoma ◽  
Figo Stage ◽  
Repeat Surgery ◽  
Systematic Lymphadenectomy ◽  
Stromal Sarcoma ◽  
Adjuvant Hormonal Treatment ◽  
Indolent Disease

AbstractEndometrial stromal sarcoma (ESS) accounts for approximately 20% of all uterine sarcomas and presents, at a mean age, around 50 years of age. Half of the patients are premenopausal. ESS often manifests as an endometrial polyp and 60% of cases present with FIGO stage I disease. The natural history is one of slow growing indolent disease. Typical microscopic findings include a uniform population of endometrial stromal-type cells invading the myometrium and myometrial vessels. Imaging studies cannot reliably diagnose ESS preoperatively, so surgical resection for a presumed fibroid is a common scenario. Hysterectomy is the cornerstone of treatment for localized ESS, but morcellation should be avoided. Systematic lymphadenectomy in ESS does not improve the outcome. Leaving the ovaries in situ does not worsen survival and this is of importance especially for young women. The data support the current practice to administer adjuvant hormonal treatment, although several questions remain, such as optimal doses, regimens (progestins or aromatase inhibitors) and duration of therapy. Repeat surgery for recurrent disease that is indolent and hormone sensitive appears to be an acceptable approach. Systemic treatment for recurrent disease is mainly hormonal.

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