-
Journal of Medical Cases Aug 2022Adenosarcomas are biphasic neoplasms that usually originate in the uterine corpus and comprise a benign epithelial component and a malignant stromal component. Uterine...
Adenosarcomas are biphasic neoplasms that usually originate in the uterine corpus and comprise a benign epithelial component and a malignant stromal component. Uterine adenosarcomas typically present with abnormal genital bleeding, an enlarged uterus, and a tumor that protrudes into the endometrial cavity. These tumors rarely protrude through the cervical os and are often misdiagnosed as cervical polyps. We present the case of a patient with cervical adenosarcoma with characteristics different from those reported in previous cases. This tumor showed endophytic growth, which is rare in cervical adenosarcomas. No watery discharge or obvious genital bleeding was noted. Although the tumor measured 4 cm, vaginal bleeding was noted only once at 6 months before diagnosis and was in the form of faint brown discharge.
PubMed: 36128067
DOI: 10.14740/jmc3952 -
Case Reports in Obstetrics and... 2014Adenosarcoma is a rare tumor which consists of benign glandular epithelium and malignant mesenchymal component. Here we report a case of adenosarcoma of the uterine...
Adenosarcoma is a rare tumor which consists of benign glandular epithelium and malignant mesenchymal component. Here we report a case of adenosarcoma of the uterine corpus. Case Presentation. A 59-year-old woman presented with vaginal bleeding and visited a local clinic. She had a uterine tumor pointed out and was referred to our hospital. Ultrasound scans revealed a large heterogeneous mass occupying the whole uterine cavity. Cytological test of endometrium was performed but the result was negative. A fractional endometrial curettage revealed no malignancy. Magnetic resonance imaging (MRI) revealed a heterogeneous solid tumor of 77 × 76 mm. Total abdominal hysterectomy with bilateral salpingo-oophorectomy and pelvic lymphadenectomy was performed. On gross examination, the tumor was arising from the uterine body and occupied the whole uterine cavity. Histopathological examination revealed phyllodes-like architecture on low magnificationandperiglandular cuffing of tumor cells. The lesion was confined to the uterus. Histopathological final diagnosis was adenosarcoma. Her postoperative course was uneventful and she was discharged without postoperative treatment and remains alive without disease 6 months after the surgery.
PubMed: 24592340
DOI: 10.1155/2014/342187 -
Modern Pathology : An Official Journal... Jun 2020Embryonal rhabdomyosarcomas (ERMS) account for 2-3% of cancers in pediatric and adolescent populations. They are rarer in adults. We and others have reported that ERMS...
Embryonal rhabdomyosarcomas (ERMS) account for 2-3% of cancers in pediatric and adolescent populations. They are rarer in adults. We and others have reported that ERMS arising in the uterine cervix may harbor mutations in the gene encoding the microRNA biogenesis enzyme, DICER1, but a large series of cases has not been published. In the uterus, distinguishing ERMS from adenosarcoma can be very challenging, even for expert pathologists, and DICER1 alterations have been identified in a variable subset of uterine adenosarcomas. We hypothesized that DICER1 genetic testing may be useful in distinguishing between ERMS and adenosarcoma. We conducted a central pathology review-based study of 64 tumors initially thought to be uterine ERMS or adenosarcoma; 19 neoplasms had a consensus diagnosis of ERMS, 27 of adenosarcoma and for 18, no consensus diagnosis was reached. The median age at diagnosis was 30 years (range 2.5-69) for ERMS, 57.5 years (range 27-82) for adenosarcoma, and 65.5 years (range 32-86) for no consensus cases. In our series, the DICER1 mutation prevalence differed between the three groups: DICER1 alterations were present in 18/19 (95%) ERMS, 7/27 (26%) adenosarcomas (p < 0.001), and 4/18 (22%) no consensus cases. A germline alteration was present in 6/12 ERMS patients tested versus 0/6 adenosarcoma patients. Thus, although DICER1 mutations are near ubiquitous in uterine ERMS and are significantly less common in uterine adenosarcoma, DICER1 testing is only of value in distinguishing between the two neoplasms when a DICER1 mutation is absent, as this is helpful in excluding ERMS. On review of the clinical and radiological features of the single DICER1 wild-type cervical ERMS, this was thought most likely to be of vaginal origin. Given the significant prevalence of DICER1 germline pathogenic variants in uterine ERMS, all patients with this diagnosis should be referred to a genetics service.
Topics: Adenosarcoma; Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; DEAD-box RNA Helicases; Female; Genetic Predisposition to Disease; Humans; Middle Aged; Mutation; Rhabdomyosarcoma; Ribonuclease III; Uterine Neoplasms; Young Adult
PubMed: 31900434
DOI: 10.1038/s41379-019-0436-0 -
World Journal of Clinical Cases Jul 2019Uterine sarcomas (US) are rare mesenchymal tumours accounting approximately for 3%-7% of all uterine cancers. Histologically, US are classified into mesenchymal tumours... (Review)
Review
Uterine sarcomas (US) are rare mesenchymal tumours accounting approximately for 3%-7% of all uterine cancers. Histologically, US are classified into mesenchymal tumours or mixed epithelial and mesenchymal tumours. The group of mesenchymal tumours includes uterine leiomyosarcoma (uLMS, 65% of cases), endometrial stromal sarcoma (ESS, 21%) - traditionally divided into low grade (LG-ESS) and high grade-undifferentiated uterine sarcoma (5%) and other rare subtypes such as alveolar or embryonal rhabdomyosarcoma. Despite the fact that several drugs demonstrated clinical activity in advanced or metastatic settings, the role of postoperative therapy in US remains controversial. In this review, we have summarised the current state of the art, including the chief trials on adjuvant treatment modalities in US, especially focusing on uLMS, LG-ESS and other rare histotypes.
PubMed: 31417921
DOI: 10.12998/wjcc.v7.i14.1753 -
Clinics (Sao Paulo, Brazil) 2021The present study aimed to contribute to the catalog of genetic mutations involved in the carcinogenic processes of uterine sarcomas (USs) and carcinosarcomas (UCSs),...
OBJECTIVES
The present study aimed to contribute to the catalog of genetic mutations involved in the carcinogenic processes of uterine sarcomas (USs) and carcinosarcomas (UCSs), which may assist in the accurate diagnosis of, and selection of treatment regimens for, these conditions.
METHODS
We performed gene-targeted next-generation sequencing (NGS) of 409 cancer-related genes in 15 US (7 uterine leiomyosarcoma [ULMS], 7 endometrial stromal sarcoma [ESS], 1 adenosarcoma [ADS]), 5 UCS, and 3 uterine leiomyoma (ULM) samples. Quality, frequency, and functional filters were applied to select putative somatic variants.
RESULTS
Among the 23 samples evaluated in this study, 42 loss-of-function (LOF) mutations and 111 missense mutations were detected, with a total of 153 mutations. Among them, 66 mutations were observed in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. TP53 (48%), ATM (22%), and PIK3CA (17%) were the most frequently mutated genes. With respect to specific tumor subtypes, ESS showed mutations in the PDE4DIP, IGTA10, and DST genes, UCS exhibited mutations in ERBB4, and ULMS showed exclusive alterations in NOTCH2 and HER2. Mutations in the KMT2A gene were observed exclusively in ULM and ULMS. In silico pathway analyses demonstrated that many genes mutated in ULMS and ESS have functions associated with the cellular response to hypoxia and cellular response to peptide hormone stimulus. In UCS and ADS, genes with most alterations have functions associated with phosphatidylinositol kinase activity and glycerophospholipid metabolic process.
CONCLUSION
This preliminary study observed pathogenic mutations in US and UCS samples. Further studies with a larger cohort and functional analyses will foster the development of a precision medicine-based approach for the treatment of US and UCS.
Topics: Brazil; Carcinosarcoma; Female; Humans; Mutation; Sarcoma; Uterine Neoplasms
PubMed: 33503190
DOI: 10.6061/clinics/2021/e2324 -
World Journal of Surgical Oncology Oct 2016Uterine adenosarcomas are rare malignant gynaecological tumours. Due to its submucous localization, they can be easily confound with benign tumours like endometrial...
BACKGROUND
Uterine adenosarcomas are rare malignant gynaecological tumours. Due to its submucous localization, they can be easily confound with benign tumours like endometrial polyps or submucous myomas. However, the treatment of uterine adenosarcomas requires an oncologic surgical approach.
CASE PRESENTATION
In the following case report, we present the minimally invasive treatment of a uterine adenosarcoma by hysteroscopy and laparoscopy in a 37-year-old patient and discuss the special role of hysteroscopy in such cases.
CONCLUSIONS
In case of unknown or suspect intrauterine tumours, a diagnostic and operative hysteroscopy with biopsy could be realized prior to laparoscopic hysterectomy especially when the use of a laparoscopic electric morcellation is planned. Thus, a correct oncologic approach can be guaranteed if an adenosarcoma is diagnosed.
TRIAL REGISTRATION
ISRCTN.
Topics: Actins; Adenosarcoma; Adult; Biopsy; Female; Humans; Hysterectomy; Hysteroscopy; Keratins; Neoplasm Staging; Neprilysin; Ovariectomy; Ovary; Salpingectomy; Ultrasonography; Uterine Neoplasms
PubMed: 27769260
DOI: 10.1186/s12957-016-1015-1 -
Frontiers in Oncology 2020The aim was to develop a personalized survival prediction deep learning model for adenosarcoma patients using the surveillance, epidemiology and end results (SEER)...
BACKGROUND
The aim was to develop a personalized survival prediction deep learning model for adenosarcoma patients using the surveillance, epidemiology and end results (SEER) database.
METHODS
A total of 797 uterine adenosarcoma patients were enrolled in this study. Duplicated and useless variables were excluded, and 15 variables were selected for further analyses, including age, grade, positive lymph nodes or not, marital status, race, tumor extension, stage, and surgery or not. We created our deep survival learning (DSL) model to manipulate the data, which was randomly split into a training set (n = 519, 65%), validation set (n = 143, 18%) and testing set (n = 143, 18%). The Cox proportional hazard (CPH) model was also included comparatively. Finally, personalized survival curves were plotted for randomly selected patients.
RESULTS
The c-index for the CPH model was 0.726, and the Brier score was 0.17. For our deep survival learning model, we achieved a c-index of 0.774 and a Brier score of 0.14 in the external testing set. In addition, the limitations of the traditional staging system were revealed, and a personalized survival prediction system based on our risk scoring grouping was developed.
CONCLUSIONS
Our study developed a deep neural network model for adenosarcoma. The performance of this model was superior to that of the traditional Cox proportional hazard model. In addition, a personalized survival prediction system was developed based on our deep survival learning model, which provided more accurate prognostic information for adenosarcoma patients.
PubMed: 33680946
DOI: 10.3389/fonc.2020.623818 -
Cancers Nov 2021Uterine sarcomas are rare cancers, sometimes diagnosed in women of childbearing age. Hysterectomy is the standard treatment in early stages. The option of lesion removal... (Review)
Review
Uterine sarcomas are rare cancers, sometimes diagnosed in women of childbearing age. Hysterectomy is the standard treatment in early stages. The option of lesion removal to save fertility is described in the literature, but it is still considered experimental. The objective of this systematic review is to report on the available evidence on the reproductive and oncological outcomes of fertility-sparing treatment in women with uterine sarcomas. PubMed, Scopus and Cochrane Central Register of Controlled Trials were searched between 1 January 2011 and 21 June 2021 for publications in English about women with uterine sarcoma treated with a fertility-sparing intervention. Thirty-seven studies were included for a total of 210 patients: 63 low-grade endometrial stromal sarcomas, 35 embryonal rhabdomyosarcomas of the cervix, 19 adenosarcomas, 7 leiomyosarcomas and 2 uterine tumors resembling an ovarian sex cord. Conservative treatment ensured pregnancy in 32% of cases. In terms of oncological outcomes, relapse was related to histology and the worst prognosis was reported for leiomyosarcoma, followed by low-grade endometrial stromal sarcoma, which relapsed in 71% and 54% of cases, respectively. The highest death rate was associated with leiomyosarcoma (57.1%). This study demonstrated that fertility-sparing treatments may be employed in selected cases of early stage uterine sarcoma.
PubMed: 34830960
DOI: 10.3390/cancers13225808 -
International Journal of Surgery Case... May 2023Mullerian adenosarcoma is a rare malignancy that generally occurs in the uterine corpus but uncommonly, it may be found extrauterine. Ovarian adenosarcoma is extremely...
INTRODUCTION AND IMPORTANCE
Mullerian adenosarcoma is a rare malignancy that generally occurs in the uterine corpus but uncommonly, it may be found extrauterine. Ovarian adenosarcoma is extremely rare and often is presented in reproductive age women. Most of them are low grade and have à good prognosis except for adenosarcoma with sarcomatous overgrowth.
CASE PRESENTATION
A 77-year-old menopausal woman presented with abdominal discomfort. She had severe ascites and elevated levels of CA-125, CA 19-9, and HE4 tumor markers. Adenosarcoma with sarcomatous overgrowth was diagnosed after the histopathological examination of the surgical biopsy.
CONCLUSION
The possibility of endometriosis transformation to malignancy even in postmenopausal women may warrant continuous follow-up for early diagnosis of ovarian cancer, this potentially fatal disease. More studies are needed to find the best therapeutic approach to adenosarcoma with sarcomatous overgrowth.
PubMed: 37148726
DOI: 10.1016/j.ijscr.2023.108244 -
International Journal of Endocrinology 2019Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and... (Review)
Review
Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and uterine and renal lesions. HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 () gene that encodes the parafibromin, a 531-amino acid protein with antiproliferative activity. Primary hyperparathyroidism is the main finding of HPT-JT syndrome, usually caused by a single-gland parathyroid involvement (80% of cases), at variance with other variants of hereditary hyperparathyroidism, in which a multiglandular involvement is more frequent. Moreover, parathyroid carcinoma may occur in approximately 20% of cases. Surgery is the treatment of choice for primary hyperparathyroidism, but the extent of surgery remains controversial, varying between bilateral neck and focused exploration, with subtotal or limited parathyroidectomy. Recently, more limited approaches and parathyroid excisions have been suggested in order to decrease the risk of permanent hypoparathyroidism, the main surgical morbidity following more extensive surgical approaches. Ossifying fibromas of the mandible or maxilla may present only in a minority of cases and, even if benign, they should be surgically treated to avoid tumor growth and subsequent functional limitations. Benign and malignant uterine involvement (including leiomyomas, endometrial hyperplasia, adenomyosis, multiple adenomyomatous polyps, and adenosarcomas) is the second most common clinical feature of the syndrome, affecting more than 50% of -carrier women. Genetic testing should be performed in all family members of affected individuals, in young patients undergoing surgery for primary hyperparathyroidism, or in presence of other associated tumors, allowing early diagnosis and prompt treatment with more tailored surgery. Moreover, mutation carriers should be also periodically screened for primary hyperparathyroidism and the other associated tumors. The present review was aimed to summarize the main clinical features of HPT-JT syndrome, focusing on genetic screening and surgical treatment, and to revise the available literature.
PubMed: 31929790
DOI: 10.1155/2019/1761030