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Journal of Pathology and Translational... Jul 2017Müllerian adenosarcomas usually arise as polypoid masses in the endometrium of post-menopausal women. Occasionally, these tumors arise in the cervix, vagina, broad and...
Müllerian adenosarcomas usually arise as polypoid masses in the endometrium of post-menopausal women. Occasionally, these tumors arise in the cervix, vagina, broad and round ligaments, ovaries and rarely in extragenital sites; these cases are generally associated with endometriosis. We experienced a rare case of extraendometrial, intramural adenosarcoma arising in a patient with adenomyosis. A 40-year-old woman presented with sudden-onset suprapubic pain. The imaging findings suggested leiomyoma with cystic degeneration in the uterine fundus. An ill-defined ovoid tumor with hemorrhagic degeneration, measuring 7.5 cm in diameter, was detected. The microscopic findings showed glandular cells without atypia and a sarcomatous component with pleomorphism and high mitotic rates. There was no evidence of endometrial origin. To recognize that adenosarcoma can, although rarely, arise from adenomyosis is important to avoid overstaging and inappropriate treatment.
PubMed: 28741605
DOI: 10.4132/jptm.2017.06.11 -
Cancer Reports (Hoboken, N.J.) Feb 2024Mesenchymal neoplasms of the uterus encompass a diverse group of tumors, with varying characteristics and origins, collectively accounting for 8% of uterine... (Review)
Review
BACKGROUND
Mesenchymal neoplasms of the uterus encompass a diverse group of tumors, with varying characteristics and origins, collectively accounting for 8% of uterine malignancies. The most common variants include uterine leiomyosarcoma, low-grade and high-grade endometrial stromal sarcoma, adenosarcoma, and undifferentiated sarcoma. Clinical presentation is often nonspecific and can lead to delayed diagnosis. Uterine sarcomas are generally aggressive, resulting in poorer prognosis compared to carcinomas. Recent advances in molecular techniques, such as next-generation sequencing (NGS), have led to the identification of new subtypes of uterine sarcomas, including COL1A1::PDGFB fusion-associated fibrosarcoma, which has a specific chromosomal translocation t(17;22)(q22;q13). Imatinib, a tyrosine kinase inhibitor (TKI), is an effective treatment for dermatofibrosarcoma protuberans (DFSP), marked by this translocation.
CASE
We present the case of a 42-year-old woman diagnosed with COL1A1::PDGFB fusion-associated uterine fibrosarcoma. The patient underwent total hysterectomy and excision of the tumor, initially misdiagnosed as a low-grade leiomyosarcoma. Subsequent histological examination, immunohistochemistry, and fluorescence in situ hybridization (FISH) confirmed the diagnosis. After 10 months, disease recurrence was detected, and Imatinib therapy was initiated at a dose of 400 mg daily. An allergic reaction led to a temporary discontinuation, but upon resumption with appropriate medication, a positive radiological response was observed. The patient achieved a complete remission after 2 years and is still on Imatinib treatment.
CONCLUSIONS
COL1A1::PDGFB fusion-associated uterine fibrosarcoma is an extremely rare mesenchymal neoplasm. In a case we present herein, we treated a patient with imatinib as first-line medical therapy. The patient is currently in complete remission after 37 months from treatment start. To the best of our knowledge, this represents a unique observation. We also provide a detailed literature review of the published cases so far. Prospective case series are needed to further understand the natural history of these tumors and optimize treatment strategies.
Topics: Female; Humans; Adult; Proto-Oncogene Proteins c-sis; Imatinib Mesylate; Dermatofibrosarcoma; In Situ Hybridization, Fluorescence; Leiomyosarcoma; Skin Neoplasms; Neoplasm Recurrence, Local; Fibrosarcoma; Soft Tissue Neoplasms; Translocation, Genetic; Uterus
PubMed: 38279510
DOI: 10.1002/cnr2.1969 -
Turkish Journal of Obstetrics and... Sep 2017The aim of this study is to present a rare case of Müllerian adenosarcoma of the cervix with ovarian metastasis and sarcomatous overgrowth. A gravida 2, para 2 woman...
The aim of this study is to present a rare case of Müllerian adenosarcoma of the cervix with ovarian metastasis and sarcomatous overgrowth. A gravida 2, para 2 woman aged 32 years with vaginal bleeding was admitted to the gynecology department. A 3-4 cm polypoid mass protruding from the cervix was detected in a pelvic examination. Total abdominal hysterectomy and bilateral salpingoopherectomy was performed because of metastatic implants on the right ovary. The pathologic evaluation revealed Müllerian adenosarcoma of the cervix with sarcomatous overgrowth and ovarian metastasis. After surgery, the patient was planned to undergo chemo- and radiotherapy. This is the first cervical Müllerian adenosarcoma case mentioned in the literature with metastasis to the ovary in a young woman. There is no optimal management option for cervical adenosarcomas due to the rarity of this phenomenon. Nevertheless, even if the patient is young and imaging techniques do not elucidate metastatic disease, surgeons should evaluate the ovaries for the spread of tumor, especially if histology reveals sarcomatous overgrowth.
PubMed: 29085712
DOI: 10.4274/tjod.75735 -
Cureus Jan 2024Uterine adenosarcoma remains a highly aggressive tumor and is less described in the literature, with an unfavorable prognosis and an increased risk of local and distant...
Uterine adenosarcoma remains a highly aggressive tumor and is less described in the literature, with an unfavorable prognosis and an increased risk of local and distant recurrence. However, surgery, chemotherapy, and radiotherapy offer local control of the disease, and overall survival remains reduced. We report the case of a 79-year-old patient with stage IIIB uterine adenosarcoma, confirmed by immunohistochemistry and initially diagnosed with postmenopausal metrorrhagia. The patient was managed through a multimodal treatment by conducting a multidisciplinary consultation.
PubMed: 38322085
DOI: 10.7759/cureus.51806 -
Frontiers in Oncology 2020Mullerian adenosarcoma (MAS) is a biphasic tumor with malignant stroma. It is most commonly of endometrial origin but occasionally originates in the cervix, ovary, or...
Mullerian adenosarcoma (MAS) is a biphasic tumor with malignant stroma. It is most commonly of endometrial origin but occasionally originates in the cervix, ovary, or other pelvic/peritoneal sites. The typical MAS is low grade with an indolent clinical course; however, tumors with sarcomatous overgrowth (SO) or a high-grade sarcoma tend to be aggressive. Tumor etiology is largely unknown. To better understand the global genome alterations and gene mutations in MAS, whole-genome sequencing (WGS) and target validation analysis were performed. MAS showed remarkable chromosome (chr) copy number variation (CNV), specifically, gains in chr 1q, 5p, 12p, 12q, and 17q and losses in chr 3p, 3q, 9p, and 11q. Gain of chr 12q13-15 was present in 50% of cases. The selected gene products in gain regions were upregulated as measured by immunohistochemistry. HMGA2 overexpression was significantly correlated with SO. While the structural variation (SV) rate was relatively low overall, a disproportionally high rate of break-ends at chr 7 was noted involving 6 in-frame rearrangement fusion genes. Among 40 frequently mutated genes detected by WGS and validated in 29 MAS by next generation sequencing (NGS), , and were frequently seen in MAS both with and without SO, while and were strongly associated with SO. Overall, a higher rate of frequently mutated genes was found in MAS with SO (33%) than MAS without (11%). This study uncovers the complex and specific genetic alterations in this malignancy. The findings provide a tool for future investigation of these molecular changes in tumorigenesis and target therapies.
PubMed: 32351899
DOI: 10.3389/fonc.2020.00538 -
Clinical Case Reports Mar 2024Adenosarcoma of the uterine cervix should be considered in the evaluation of post-menopausal bleeding, as it can be a potential underlying cause. Timely diagnosis and...
KEY CLINICAL MESSAGE
Adenosarcoma of the uterine cervix should be considered in the evaluation of post-menopausal bleeding, as it can be a potential underlying cause. Timely diagnosis and appropriate management are essential to optimize patient outcomes.
ABSTRACT
Adenosarcoma is a biphasic neoplasm comprising both a benign epithelial component and a typically low-grade sarcomatous stromal component. Adenosarcoma mainly affects the endometrium (71%), with a lesser incidence in the cervix (2%). Herein, the authors report a case of adenosarcoma of the uterine cervix with distinct gross features.
PubMed: 38523826
DOI: 10.1002/ccr3.8683 -
Journal of Gynecologic Oncology Jul 2017To evaluate the oncologic safety of ovarian preservation (OP) in premenopausal women diagnosed with the International Federation of Gynecology and Obstetrics (FIGO)...
OBJECTIVE
To evaluate the oncologic safety of ovarian preservation (OP) in premenopausal women diagnosed with the International Federation of Gynecology and Obstetrics (FIGO) stage I uterine sarcoma.
METHODS
The National Cancer Institute's Surveillance, Epidemiology, and End Results database was accessed and a cohort of women aged ≤50 diagnosed between 1988-2013 with a sarcoma limited to the uterus was drawn. Based on site-specific surgery codes, women who underwent hysterectomy with or without oophorectomy and did not receive radiation therapy were selected for further analysis. Overall (OS) and cancer-specific (CSS) survival were determined following generation of Kaplan-Meier curves; comparisons were made with the log-rank test. A Cox-proportional hazard model was constructed to control for possible confounders.
RESULTS
A total of 1,482 women were included in the analysis; 800 (54.0%) were diagnosed with leiomyosarcoma (LMS), 520 (35.1%) with low-grade endometrial stromal sarcoma (LG-ESS), and 162 (10.9%) with adenosarcoma (AS). The OP group included 418 women (28.2%). Differences in the rate of OP were noted based on histology (p=0.014), year of diagnosis (p=0.001), patient age (p<0.001) and race (p=0.012). There was no difference in OS (p=0.220) or CSS (p=0.210) between women who had OP and those who did not. Multivariate analysis confirmed that OP was not associated with a worse mortality.
CONCLUSION
In this population-based cohort of women with sarcoma limited to the uterus, OP was not associated with worse oncologic outcomes. OP could be considered for women with LMS, sparing them from the morbidity associated with iatrogenic menopause. No conclusions could be made for those with LG-ESS or AS.
Topics: Adenosarcoma; Adolescent; Adult; Female; Humans; Hysterectomy; Kaplan-Meier Estimate; Leiomyosarcoma; Middle Aged; Neoplasm Staging; Organ Sparing Treatments; Ovariectomy; Ovary; Premenopause; Proportional Hazards Models; Retrospective Studies; SEER Program; Survival Rate; Tumor Burden; Uterine Neoplasms; Young Adult
PubMed: 28541635
DOI: 10.3802/jgo.2017.28.e46 -
Modern Pathology : An Official Journal... Feb 2019Müllerian adenosarcomas are biphasic epithelial-mesenchymal tumors with benign epithelial and malignant mesenchymal components. The sarcoma component may be low or high...
Müllerian adenosarcomas are biphasic epithelial-mesenchymal tumors with benign epithelial and malignant mesenchymal components. The sarcoma component may be low or high grade; the latter is often seen in the presence of stromal overgrowth, which correlates with worse clinical outcome. Heterologous differentiation may also occur, usually in association with stromal overgrowth. DICER1 mutations have been reported primarily in a small subset of adenosarcomas with rhabdomyosarcomatous elements, but whether these are specific to the rhabdomyosarcomatous phenotype is unclear. In this study, we examined the clinical, pathologic, and genomic features of 19 müllerian adenosarcomas enriched for tumors with rhabdomyosarcomatous differentiation, as well as eight uterine carcinosarcomas with a rhabdomyosarcoma component. Somatic hotspot mutations in the RNase IIIb domain of DICER1 were identified in 8/19 (42%) adenosarcomas, of which four showed rhabdomyosarcomatous differentiation. DICER1 mutations were detected in 4/6 (67%) cases with a rhabdomyosarcoma component and in 4/11 (36%) cases without rhabdomyosarcoma. At least two DICER1 mutations were identified in 7/8 (88%) tumors, of which four had a truncating mutation. The hotspot DICER1 mutation in the remaining tumor was hemizygous and associated with loss of heterozygosity. Other less frequent recurrent somatic pathogenic alterations included Ras or PI3K/PTEN pathway aberrations (5/19 each, 26%), CDK4/MDM2 amplifications (3/19, 16%), and mutations in TP53 (3/19) and ARID1A (3/19). Two tumors demonstrated homozygous BAP1 deletion. One tumor harbored an ESR1-NCOA3 fusion gene. Carcinosarcomas with rhabdomyosarcomatous differentiation showed frequent mutations in TP53 (7/8, 88%) and the PI3K/PTEN pathway (6/8, 75%) but lacked DICER1 mutations. The findings highlight the importance of DICER1 mutations in müllerian adenosarcoma tumorigenesis and show that these alterations are not exclusive to heterologous rhabdomyosarcomatous differentiation.
Topics: Adenosarcoma; Adult; Aged; Aged, 80 and over; DEAD-box RNA Helicases; Female; Humans; Middle Aged; Mutation; Ribonuclease III; Uterine Neoplasms
PubMed: 30266945
DOI: 10.1038/s41379-018-0132-5 -
mutation in aggressive uterine adenosarcoma in which systemic chemotherapies had remarkable effects.International Cancer Conference Journal Apr 2023Uterine adenosarcoma is a rare gynecologic malignancy, and 10-25% of the cases exhibit clinically aggressive behaviors. Although mutations are frequently identified in...
Uterine adenosarcoma is a rare gynecologic malignancy, and 10-25% of the cases exhibit clinically aggressive behaviors. Although mutations are frequently identified in high-grade adenosarcomas of the uterus, definitive gene alterations have not been identified in uterine adenosarcomas. Specifically, no reports have described mutations in homologous recombination deficiency-related genes in uterine adenosarcomas. This study presents a case of uterine adenosarcoma without sarcomatous overgrowth but with mutation that exhibited clinically aggressive behaviors. The patient had an mutation, which is a gene associated with homologous recombination deficiency, and exhibited a good response against platinum-based chemotherapy and possible therapeutic target by poly(ADP-ribose) polymerase inhibitors.
PubMed: 36896195
DOI: 10.1007/s13691-022-00591-6 -
La Tunisie Medicale Feb 2024Eighty-five per cent of uterine inversions are puerperal. Non-puerperal uterine inversion is usually caused by tumours that exert a traction force on the fundus of the...
INTRODUCTION
Eighty-five per cent of uterine inversions are puerperal. Non-puerperal uterine inversion is usually caused by tumours that exert a traction force on the fundus of the uterus. This causes the uterus to be partially or completely inverted. It is commonly related to benign tumours like submucosal leiomyomas. Nevertheless, malignancies are an infrequent association.
CASE PRESENTATION
We report a case of a 35-year-old female patient, medically and surgically free, gravida0 para0, complaining of menometrorrhagia associated with pelvic pain for 2 years. A suprapubic ultrasound scan showed an enlarged, globular uterus with a heterogeneous, undefined mass of 49 mm in size. MRI scan showed the appearance of a U-shaped uterine cavity and a thickened inverted uterine fundus with an endometrial infiltrating mass of 25 mm. Intraoperative exploration showed uterine inversion involving the ovaries; the fallopian tubes and the round ligaments and a necrotic intracavitary mass. The malignancy of the tumor was confirmed through anatomopathological examination as Adenosarcoma.
CONCLUSIONS
Uterine inversion is rare outside the puerperal period, and malignant etiology must not be overlooked. Therefore, comprehensive care with meticulous etiological investigation is crucial.
Topics: Female; Humans; Adult; Uterine Inversion; Uterine Neoplasms; Adenosarcoma; Leiomyoma; Urogenital Abnormalities; Uterus
PubMed: 38567479
DOI: 10.62438/tunismed.v102i2.4352