-
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 -
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 -
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 -
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 -
Clinical Case Reports Jun 2024Endometriosis may contribute to Mullerian adenosarcoma development but makes diagnosis challenging given similar symptoms. Survival benefit has not been definitively...
Rare Mullerian adenosarcoma of the uterine cervix arising on a background of endometriosis: A diagnostic challenge with risk of malignant transformation-A case report and review of the current literature.
Endometriosis may contribute to Mullerian adenosarcoma development but makes diagnosis challenging given similar symptoms. Survival benefit has not been definitively shown for chemotherapy, hormonal therapy, or radiotherapy, consolidating surgery as the mainstay treatment. Local excision may be a treatment option for patients with confined tumors wishing to preserve their fertility.
PubMed: 38883216
DOI: 10.1002/ccr3.9075 -
Gynecologic Oncology Reports Jun 2024•Non-puerperal uterine inversion can be associated with uterine sarcomas.•Adenosarcoma is a tumor composed of benign epithelium and malignant stroma.•If malignancy...
•Non-puerperal uterine inversion can be associated with uterine sarcomas.•Adenosarcoma is a tumor composed of benign epithelium and malignant stroma.•If malignancy is suspected or confirmed treatment of uterine inversion with hysterectomy is advised.
PubMed: 38681981
DOI: 10.1016/j.gore.2024.101398 -
Frontiers in Oncology 2024Polypoid lesions in the uterus are very common. There are a lot of benign lesions and malignant tumor should be considered. Adenosarcoma, one of the differential...
Polypoid lesions in the uterus are very common. There are a lot of benign lesions and malignant tumor should be considered. Adenosarcoma, one of the differential diagnoses, is a rare mixed epithelial and mesenchymal tumor consisting of benign epithelial components and sarcoma stroma. Here, we present a case of atypical adenosarcoma that has never been reported. This tumor was composed of benign endometrial epithelium and hyperplastic stroma with extensive bizarre stromal cells. But the cleft-like spaces and papillary stomal fronds which were the typical histological images of adenosarcoma were absent. These stomal cells, including bizarre cells, were positive for vimentin, CD10, ER, PR, cyclin D1 and P16 but were immunonegative for caldesmon. Furthermore, this tumor harbored amplification of MDM2, as revealed by fluorescence hybridization testing (FISH) and next-generation DNA sequencing (NGS).
PubMed: 38549925
DOI: 10.3389/fonc.2024.1351646 -
Case Reports in Oncology 2023Uterine adenosarcoma (AS) is a rare biphasic neoplasm composed of a malignant, usually low-grade stromal component and benign epithelial component, usually endometrioid....
Uterine adenosarcoma (AS) is a rare biphasic neoplasm composed of a malignant, usually low-grade stromal component and benign epithelial component, usually endometrioid. Pathogenesis is unknown; some cases are undoubtably associated with tamoxifen use. Endometrial clear cell carcinoma (CCC) is an aggressive subtype of endometrial cancer, accounting for less than 10% of all uterine carcinomas. The etiology is unknown but can rarely be associated with Lynch syndrome and tamoxifen administration. The development of a composite neoplasm consisting of adenocarcinoma in AS is extremely rare. Endometrioid carcinoma typically represents the epithelial component of the composite tumor. Here we present the very first case of composite tumor, namely, AS with CCC in which next-generation sequencing was performed. Patient was an 85-year-old woman treated with tamoxifen for 5 years. To better understand the pathobiology of two tumors, a targeted genomic analysis of both components was performed. We found seven identical somatic variants in the samples of both tumors, indicating that the tumors have a high probability of having the same origin. Dual amplification of CDK4 and MDM2 was the most likely primary cause of tumor formation, but also one driver variant in the DHX15 gene that was present in both tumor components, suggesting that DHX15 may play an important role in the initiation and development of sarcoma and carcinoma. The patient is followed by regular clinical controls and is alive without signs of disease recurrence 18 months after surgery.
PubMed: 37946747
DOI: 10.1159/000531988 -
Clinical Case Reports Mar 2024Rhabdomyosarcoma of the female genital tract often involves the vagina and cervix. It usually occurs in infants and children. Such tumors are uncommon in the uterus,...
KEY CLINICAL MESSAGE
Rhabdomyosarcoma of the female genital tract often involves the vagina and cervix. It usually occurs in infants and children. Such tumors are uncommon in the uterus, especially in adults. Treatment options are based on studies of younger individuals.
ABSTRACT
Rhabdomyosarcoma (RMS) is a malignant mesenchymal neoplasm with a tendency to differentiate into skeletal muscle cells. RMS is an aggressive tumor that tends to develop in children and younger patients. A vast majority of genital tract RMSs occur in the vagina and cervix. Such tumors rarely occur in adults. Usually, these tumors either occur as a component of a biphasic uterine tumor (carcinosarcoma or adenosarcoma) or can be a pure heterologous tumor. Pure uterine RMSs are extremely rare in adult patients and difficult to diagnose. Accurate diagnosis of these tumors depends on precise histopathological evaluation. The present report describes a rare case of embryonal RMS of the uterus in a postmenopausal female and explores the most recent literature. The aim is to strengthen the existing literature and aid clinicians in the management of similar cases. A 64-year-old postmenopausal female presented with a history of abdominal pain associated with abdominal distension, per vaginal bleeding, and foul-smelling discharge for 6 months. A transabdominal ultrasound revealed a bulky uterus with a well-circumscribed heterogeneous lesion. Histopathology confirmed the diagnosis of high-grade embryonal RMS within the corpus region of the uterus. A total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed, followed by adjuvant chemotherapy to prevent relapse of the disease. Six months after oncological care has passed, the patient remains symptoms-free without evidence of recurrence or metastasis.
PubMed: 38455863
DOI: 10.1002/ccr3.8631