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International Journal of Analytical... 2023Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade,...
Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mutations in UA, next-generation sequencing (NGS) technology analysis was performed. This study showed that two low-grade UAs with heterologous components had ATRX gene frameshift mutation, and one patient had a MED12 missense mutation. Copy number amplification genes were mainly observed on chromosome 12q. In this study, PIK3/AKT/PTEN pathway mutations were found to be common in adenosarcoma. In addition, a rare BCORL1-PRR14L fusion mutation was also identified. These findings provide a basis for future research into these molecular changes in tumorigenesis and targeted therapy.
PubMed: 37810911
DOI: 10.1155/2023/7436368 -
Journal of Hematology & Oncology Jun 2018Preclinical data have shown that ERBB2 activating mutations are responsive to HER2 tyrosine kinase inhibitors. The aim of this study is to characterize the landscape of...
Preclinical data have shown that ERBB2 activating mutations are responsive to HER2 tyrosine kinase inhibitors. The aim of this study is to characterize the landscape of ERBB2 mutations in solid tumors and the potential efficacy of ERBB2 targeting.We analyzed the next-generation sequencing results from 17,878 patients with solid tumors and reported the outcome of 4 patients with advanced ERBB2-mutated tumors treated with a combination of trastuzumab and lapatinib.ERBB2 mutations occurred in 510 patients (2.85%). The tumor types with the highest incidence of ERBB2 mutations were the following: bladder (16.6%), small bowel (8.6%), ampullar (6.5%), skin non-melanoma (6.1%), and cervical cancer (5.5%). 49.4% (n = 282) were known as activating mutations. ERBB2 mutation was not mutually exclusive of ERBB2 amplification which occurred in up to 10% of cases. PI3KCA activating mutations were associated with ERBB2 mutations in 12.4% of cases mainly in breast and lung cancer. Four patients (endometrial, colorectal, cholangiocarcinoma, and adenosarcoma of the uterus) were treated with a combination of trastuzumab and lapatinib. All of them experienced tumor shrinkage resulting in stable disease in three cases and partial response in one case. One patient developed secondary resistance. Sequencing of the progressing metastasis allowed the identification of the ERBB2 L869R mutation previously associated with resistance to lapatinib in vitro.These results support further clinical investigation aiming to demonstrate that ERBB2-mutational driven therapy can improve patient care irrespective of histology.
Topics: Female; Humans; Male; Mutation; Neoplasms; Receptor, ErbB-2
PubMed: 29941010
DOI: 10.1186/s13045-018-0630-4 -
Obstetrics and Gynecology Mar 2016To estimate the frequency of unsuspected sarcoma identified postoperatively in women undergoing surgery for benign gynecologic indications at our institution.
OBJECTIVE
To estimate the frequency of unsuspected sarcoma identified postoperatively in women undergoing surgery for benign gynecologic indications at our institution.
METHODS
Patients undergoing hysterectomy for benign gynecologic indications from 2000 to 2014 at our institution were identified. Patients who did not have a preoperative suspicion for malignancy and were found to have uterine sarcoma on pathology postoperatively were considered to have an occult uterine sarcoma. Relevant clinical and pathologic data were collected for this retrospective cohort study.
RESULTS
A total of 10,119 hysterectomies for benign gynecologic indications were performed between 2000 and 2014. Among these, nine patients were found to have uterine sarcoma, with an overall rate 1 in 1,124 (95% confidence interval 1/592-1/2,457). These malignancies included five leiomyosarcomas, two endometrial stromal sarcomas, and two uterine adenosarcomas. Median age was 39 years (range 25-53 years). Among women found to have occult sarcoma, hysterectomy was performed as a primary indication for abnormal bleeding (77.8%) and leiomyomas (22.2%). Cases included six total abdominal hysterectomies, two total vaginal hysterectomies, and one supracervical hysterectomy. One case required manual morcellation during abdominal hysterectomy. Power morcellation was not used in any of the cases.
CONCLUSION
In summary, occult uterine sarcoma occurs in 0.089% or 1 in 1,124 hysterectomies for benign indications in our population. The frequency is lower than the rate derived in earlier reports and by the U.S. Food and Drug Administration in their pooled analysis.
Topics: Adult; Female; Humans; Hysterectomy; Incidental Findings; Middle Aged; Retrospective Studies; Sarcoma; Texas; Uterine Neoplasms
PubMed: 26855091
DOI: 10.1097/AOG.0000000000001242 -
World Journal of Surgical Oncology Apr 2024To investigate the clinicopathological characteristics and prognosis of patients with primary sarcoma of the uterine cervix.
OBJECTIVES
To investigate the clinicopathological characteristics and prognosis of patients with primary sarcoma of the uterine cervix.
METHODS
We identified all patients with primary cervical sarcomas treated at our institution from 2002 to 2020 and analyzed the clinicopathological characteristics and prognosis.
RESULTS
34 patients were identified, 7 (20.6%) patients had leiomyosarcoma, 6 (17.6%) had carcinosarcoma, 5 (14.7%) had Ewing sarcoma, 4 (11.8%) had rhabdomyosarcoma, 4 (11.8%) had undifferentiated sarcoma, 2 (5.9%) had adenosarcoma, 2 (5.9%) had endometrial stromal sarcoma, 1 (2.9%) had dermatofibrosarcoma protuberans, 1 (2.9%) had alveolar soft tissue sarcoma and 2 (5.9%) had sarcoma not otherwise specified. The median age of the whole patients was 43.5 years (range, 13-63). The median age of patients with Ewing sarcoma or rhabdomyosarcoma was 22 years (range, 13-39) and 17 years (range, 13-36 years), respectively. The distribution by stage was: stage I in 21 (61.8%) patients, stage II in 4 (11.8%), stage III in 6 (17.6%) and stage IV in 3 (8.8%). Overall, 30 patients (88.2%) received surgical treatment. The median follow-up was 33.3 months (range 3.6-187.3 months). 11 patients died within 2 years after diagnosis, most of them were patients with carcinosarcoma or undifferentiated sarcoma (45.5%, 5/11). In the entire cohort, 2- and 5-year OS were 67.2% and 56.9%, respectively. 5-year OS was 25.0% for undifferentiated sarcoma, 50.0% for rhabdomyosarcoma, 50.0% for carcinosarcoma, 53.3% for Ewing sarcoma, 57.1% for leiomyosarcoma.
CONCLUSION
Cervical sarcomas are rare neoplasms with multiple histological subtypes and follow an aggressive course. Prognosis may be associated with tumor histology and stage.
Topics: Female; Humans; Adolescent; Young Adult; Adult; Middle Aged; Leiomyosarcoma; Sarcoma, Ewing; Uterine Cervical Neoplasms; Uterine Neoplasms; Sarcoma; Carcinosarcoma; Rhabdomyosarcoma; Prognosis
PubMed: 38637834
DOI: 10.1186/s12957-024-03376-8 -
The Journal of International Medical... Apr 2022Adenosarcoma is a rare type of tumor with a mixture of epithelial and stromal components and often occurs in the female reproductive system. Primary hepatic adenosarcoma...
Adenosarcoma is a rare type of tumor with a mixture of epithelial and stromal components and often occurs in the female reproductive system. Primary hepatic adenosarcoma (PHAS) is extremely rare, with only two cases reported so far. Both patients had poor outcomes. Here, we report the case of a 36-year-old man with pain under the xiphoid process who was diagnosed with a bile duct tumor. He was treated with adjuvant radiotherapy when surgery was performed on him. Pathologically, the tumor contained benign epithelial tissue, and the submucosa of the bile duct in the liver showed infiltrating growth of spindle cell components. The cells were dense, mildly heterotypic, and occasionally mitotic, and the patient was diagnosed with PHAS. Whole-exome sequencing results showed that a total of 12 mutations were shared by the two tissues. The patient received adjuvant radiotherapy and he was tumor-free until 31 months postoperatively. This case will provide some references of the disease to other researchers.
Topics: Adenosarcoma; Adult; Female; Humans; Liver; Radiotherapy, Adjuvant; Soft Tissue Neoplasms; Uterine Neoplasms
PubMed: 35400213
DOI: 10.1177/03000605221089546 -
Cancer Reports (Hoboken, N.J.) Oct 2023In patients with uterine adenosarcoma, a total abdominal hysterectomy (TAH) with bilateral salpingo-oophorectomy (BSO) is typically recommended as an initial treatment.... (Review)
Review
The uterine adenosarcoma with postoperative residual in a woman treated by total abdominal hysterectomy/bilateral salpingo-oophorectomy: A case report and review of literature.
BACKGROUND
In patients with uterine adenosarcoma, a total abdominal hysterectomy (TAH) with bilateral salpingo-oophorectomy (BSO) is typically recommended as an initial treatment. There is no consensus on adjuvant therapies.
CASE
We report the case of a patient with uterine adenosarcoma with postoperative residual disease. We performed four courses of adjuvant chemotherapy, including Ifosfamide, Mesna, and Adriamycin, and whole pelvic radiation with a dose of 50.4 Gy/28 Fr.
CONCLUSION
A combination of chemotherapy and radiotherapy may be a promising treatment option for uterine adenosarcoma with postoperative residual disease.
Topics: Female; Humans; Salpingo-oophorectomy; Uterine Neoplasms; Hysterectomy; Adenosarcoma
PubMed: 37592402
DOI: 10.1002/cnr2.1891 -
Facts, Views & Vision in ObGyn Jan 2021Adenosarcoma is an extremely rare malignancy of the female genital tract composed of stromal sarcoma with a benign epithelial component. Current treatment...
Adenosarcoma is an extremely rare malignancy of the female genital tract composed of stromal sarcoma with a benign epithelial component. Current treatment recommendations include total hysterectomy with bilateral salpingo-oophorectomy, precluding future fertility. Although most frequently diagnosed in postmenopausal women, it is occasionally present in younger women of reproductive age with desire for future fertility. In 2015, we reported the case of a 23-year-old patient diagnosed with uterine adenosarcoma, who having strong desire of future fertility, opted for fertility sparing surgery. At a follow-up five years later, we can now report her case of spontaneous pregnancy and livebirth. A review of the literature concerning fertility outcomes in patients with uterine adenosarcoma undergoing fertility sparing therapeutic options is presented.
PubMed: 33575681
DOI: No ID Found -
Gynecologic Oncology Mar 2017Uterine adenosarcoma (UAS) is a rare gynecologic malignancy and the significance of lymph node metastasis on survival has not been well studied.
OBJECTIVE
Uterine adenosarcoma (UAS) is a rare gynecologic malignancy and the significance of lymph node metastasis on survival has not been well studied.
METHODS
A retrospective study was performed utilizing the Surveillance, Epidemiology, End Results Program to examine UAS (n=994), endometrial stromal sarcoma (ESS, n=2910), and uterine leiomyosarcoma (LMS, n=5506) diagnosed between 1973 and 2013. The impact of lymph node metastasis on cause-specific survival (CSS) was cross-compared by multivariable analysis. Systematic literature review was conducted to examine the impact of nodal metastasis on progression-free survival (PFS) in UAS.
RESULTS
UAS had the lowest incidence of lymph node metastasis among the sarcoma subtypes examined (UAS 2.9%, LMS 3.4%, and ESS 6.6%, P<0.001). Lymph node metastasis was independently associated with decreased CSS in all three tumor types (all, P<0.01); however, magnitudes of statistical significance of lymph node metastasis for CSS were similar across the three tumor types: adjusted-hazard ratio (aHR) for UAS 2.34, ESS 2.43, and LMS 2.10. Systematic literature review identified 230 unique cases of surgically treated UAS. On multivariable analysis, lymph node metastasis (aHR 4.72) had the greatest degree of significance for PFS compared to other tumor factors including sarcomatous overgrowth (aHR 2.88), heterologous elements (aHR 2.08), and deep myometrial invasion (aHR 1.51). Large tumor, deep myometrial invasion, and sarcomatous overgrowth were associated with increased risk of lymph node metastasis (all, P<0.05).
CONCLUSION
While uterine adenosarcoma had a low incidence of lymph node metastasis, the impact of lymph node metastasis on survival was comparable to ESS or LMS.
Topics: Adenosarcoma; Disease-Free Survival; Female; Humans; Lymph Nodes; Middle Aged; Neoplasm Metastasis; Retrospective Studies; SEER Program; Survival Analysis; United States; Uterine Neoplasms
PubMed: 28109626
DOI: 10.1016/j.ygyno.2017.01.012 -
International Journal of Surgery Case... 2016Müllerian adenosarcoma of the cervix with sarcomatous overgrowth and lymphovascular invasion is a rare and aggressive disease. We report a case of a young patient with...
INTRODUCTION
Müllerian adenosarcoma of the cervix with sarcomatous overgrowth and lymphovascular invasion is a rare and aggressive disease. We report a case of a young patient with Müllerian adenosarcoma with sarcomatous overgrowth in the uterine cervix and pelvic lymph node involvement. The patient received radical surgery but not adjuvant treatment, and the disease was aggressive with rapid relapse.
PRESENTATION OF CASE
A 39-year-old woman was diagnosed with Müllerian adenosarcoma of the cervix with sarcomatous overgrowth, International Federation of Gynecology and Obstetrics (FIGO) stage IB2. She underwent abdominal radical hysterectomy and resection of the left external iliac lymph nodes for suspected metastatic involvement detected during surgical exploration but undetected via imaging. She refused adjuvant treatment, and the disease recurred 8 months after primary oncologic surgery, with rapid local, regional, and bone relapse.
DISCUSSION
Our report suggests that sarcomatous overgrowth, a high mitotic index, a rhabdomyoblastic component, and lymphovascular compromise are risk factors for aggressive recurrence. Positron emission tomography-computed tomography (PET-CT) was used to identify relapse locations in addition to those detected via clinical examination of the vaginal vault. However, whether PET-CT is indicated for the initial detection of lymph node and bone metastases in FIGO stage IB tumors with surgical indication is unclear.
CONCLUSION
A young woman with Müllerian adenosarcoma of the cervix with sarcomatous overgrowth presenting the risk factors for its recurrence experienced a rapid relapse after receiving radical surgery but not adjuvant therapy. Control of this aggressive disease via sequential radiotherapy and chemotherapy are recommended.
PubMed: 27621097
DOI: 10.1016/j.ijscr.2016.08.044 -
Diagnostic Pathology Apr 2024Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological...
BACKGROUND
Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological characteristics of 22 adenosarcomas, with a particular focus on screening for DICER1 hot mutations.
METHODS
The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022. Sanger sequencing was employed to screen for somatic Hotspot mutations in the RNase IIIb domain of DICER1 in the 22 adenosarcomas.
RESULTS
Only one patient exhibited a DICER1 mutation that was not a DICER1 Hotspot mutation. Among the 22 patients, all underwent total hysterectomy with bilateral salpingo-oophorectomy, and 14 out of these 22 patients received adjuvant treatment.
CONCLUSION
In summary, our study of 22 Müllerian adenosarcomas focused on the clinicopathological features and the presence of DICER1 Hotspot mutations. Although our findings did not reveal any DICER1 mutations in the studied samples, this negative result provides valuable information for the field by narrowing down the genetic landscape of adenosarcomas and highlighting the need for further research into alternative molecular pathways driving this malignancy.
Topics: Female; Humans; Adenosarcoma; Mutation; China; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 38570882
DOI: 10.1186/s13000-024-01477-2