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1.
Georgian Med News ; (350): 42-48, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-39089269

RESUMEN

Most mesenchymal tumors found in the uterine corpus are benign tumors; however, uterine leiomyosarcoma is a malignant tumor with unknown risk factors that repeatedly recurs and metastasizes. In some cases, the histopathologic findings of uterine leiomyoma and uterine leiomyosarcoma are similar and surgical pathological diagnosis using excised tissue samples is difficult. It is necessary to analyze the risk factors for human uterine leiomyosarcoma and establish diagnostic biomarkers and treatments. Female mice deficient in the proteasome subunit low molecular mass peptide 2 (LMP2)/ß1i develop uterine leiomyosarcoma spontaneously. MATERIAL AND METHODS: Out of 334 patients with suspected uterine mesenchymal tumors, patients diagnosed with smooth muscle tumors of the uterus were selected from the pathological file. To investigate the expression status of biomarker candidate factors, immunohistochemical staining was performed with antibodies of biomarker candidate factors on thin-cut slides of human uterine leiomyosarcoma, uterine leiomyoma, and other uterine mesenchymal tumors. RESULTS AND DISCUSSION: In human uterine leiomyosarcoma, there was a loss of LMP2/ß1i expression and enhanced cyclin E1 and Ki-67/MIB1 expression. In human uterine leiomyomas and normal uterine smooth muscle layers, enhanced LMP2/ß1i expression and the disappearance of the expression of E1 and Ki-67/MIB1 were noted. The pattern of expression of each factor in other uterine mesenchymal tumors was different from that of uterine leiomyosarcoma. CONCLUSIONS: LMP2/ß1i, cyclin E1, and Ki-67/MIB1 may be candidate factors for biomarkers of human uterine leiomyosarcoma. Further large-cohort clinical trials should be conducted to establish treatments and diagnostics for uterine mesenchymal tumors.


Asunto(s)
Biomarcadores de Tumor , Ciclina E , Leiomioma , Leiomiosarcoma , Proteínas Oncogénicas , Neoplasias Uterinas , Humanos , Femenino , Neoplasias Uterinas/patología , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Leiomiosarcoma/genética , Leiomiosarcoma/metabolismo , Leiomiosarcoma/patología , Leiomiosarcoma/diagnóstico , Leiomioma/metabolismo , Leiomioma/patología , Leiomioma/diagnóstico , Leiomioma/genética , Proteínas Oncogénicas/genética , Proteínas Oncogénicas/metabolismo , Ciclina E/metabolismo , Ciclina E/genética , Complejo de la Endopetidasa Proteasomal/metabolismo , Complejo de la Endopetidasa Proteasomal/genética , Antígeno Ki-67/genética , Antígeno Ki-67/metabolismo , Persona de Mediana Edad , Adulto , Cisteína Endopeptidasas
2.
BMC Pulm Med ; 24(1): 376, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39090648

RESUMEN

Pulmonary benign metastasizing leiomyoma is an uncommon condition, predominantly affecting women of childbearing age with a history of uterine smooth muscle tumors and uterine leiomyoma surgery for uterine leiomyoma. The progression of PBML is often unpredictable and depends on the extent of lung involvement. Generally, most patients remain asymptomatic, but a minority may experience coughing, wheezing, or shortness of breath, which are frequently misdiagnosed as pneumonia. consequently, this presents significant challenges in both treatment and nursing care before diagnosis. This paper reports the case of a 35-year-old woman primarily diagnosed with acute hypoxic respiratory failure who was transferred from the emergency room to the intensive care unit. The initial computed tomography scan of the patient's lungs indicated diffuse interstitial pneumonia, but the sequencing of the alveolar lavage fluid pathogen macro did not detect any bacteria, fungi, or viruses. Moreover, the patient remained in a persistent hypoxic state before the definitive diagnosis. Therefore, our focus was on maintaining the airway patency of the patient, using prone ventilation, inhaling nitric oxide, monitoring electrical impedance tomography, and preventing ventilator-associated pneumonia to improve oxygenation, while awaiting immunohistochemical staining of the patient's biopsied lung tissue. This would help us clarify the diagnosis and treat it based on etiology. After meticulous treatment and nursing care, the patient was weaned off the ventilator after 26 days and transferred to the respiratory ward after 40 days. This case study may serve as a reference for clinical practice and assist patients suffering from PBML.


Asunto(s)
Leiomioma , Neoplasias Pulmonares , Insuficiencia Respiratoria , Neoplasias Uterinas , Humanos , Femenino , Adulto , Leiomioma/patología , Leiomioma/complicaciones , Leiomioma/diagnóstico , Insuficiencia Respiratoria/etiología , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/patología , Neoplasias Uterinas/patología , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/diagnóstico , Tomografía Computarizada por Rayos X , Hipoxia/etiología , Diagnóstico Diferencial
3.
J Med Case Rep ; 18(1): 325, 2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-39010207

RESUMEN

BACKGROUND: Lymphoid neoplasm is a common disease, arising from lymphoid cells. It is divided into Hodgkin lymphoma and non-Hodgkin lymphoma. Non-Hodgkin lymphoma can be intranodular or extranodular, which happens in 25% of primary cases. The most common locations of extranodular non-Hodgkin lymphoma are the skin and gastrointestinal tract. The genital tract is a rare location; most lymphomas arise from the cervix and vagina, while the uterine corpus is an extremely rare location. In our case, the patient was diagnosed with primary extranodular non-Hodgkin lymphoma in different locations of her genital tract. CASE PRESENTATION: A 48-year-old nonparous Syrian woman complained of diffuse abdominal pain, fatigue, debility, high fever, vomiting, and urinary retention for a week. The last menstrual period of the patient was 5 years previously. The physical examination showed periodic abdominal pain with severe fatigue and increased abdominal size. The laboratory investigations were within normal limits except for a low level of hemoglobin and a high level of cancer antigen 125. The radiological investigations showed a uterine sizable lobulated mass with irregular borders and high and heterogeneous density, extending to the right and left ovaries, enlargement lymph nodes around the abdominal aortic and right iliac vessels, and severe right pleural effusion with right inferior lobe atelectasis. A total hysterectomy and oophorectomy were done. The histopathological examination showed that the patient had non-Hodgkin lymphoma (primary tumor). CONCLUSION: Primary non-Hodgkin lymphoma in the female genital tract is an extremely rare disease. Fast diagnosis and treatment can improve the outcomes, so this differential diagnosis should be in our minds even in the absence of systematic manifestations of lymphoma. More studies are needed to explain the pathology of this disease and to put guidelines that determine the perfect methods for diagnosis and treatment.


Asunto(s)
Linfoma de Células B Grandes Difuso , Neoplasias Uterinas , Humanos , Femenino , Persona de Mediana Edad , Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células B Grandes Difuso/patología , Linfoma de Células B Grandes Difuso/diagnóstico , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/patología , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/diagnóstico , Histerectomía , Dolor Abdominal/etiología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Tomografía Computarizada por Rayos X
4.
Int J Mol Sci ; 25(13)2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-39000274

RESUMEN

Understanding the molecular factors involved in the development of uterine myomas may result in the use of pharmacological drugs instead of aggressive surgical treatment. ANG1, CaSR, and FAK were examined in myoma and peripheral tissue samples taken from women after myoma surgery and in normal uterine muscle tissue samples taken from the control group. Tests were performed using tissue microarray immunohistochemistry. No statistically significant differences in ANG1 expression between the tissue of the myoma, the periphery, and the normal uterine muscle tissue of the control group were recorded. The CaSR value was reduced in the myoma and peripheral tissue and normal in the group of women without myomas. FAK expression was also lower in the myoma and periphery compared to the healthy uterine myometrium. Calcium supplementation could have an effect on stopping the growth of myomas.


Asunto(s)
Quinasa 1 de Adhesión Focal , Leiomioma , Receptores Sensibles al Calcio , Neoplasias Uterinas , Humanos , Femenino , Leiomioma/metabolismo , Leiomioma/patología , Leiomioma/genética , Receptores Sensibles al Calcio/metabolismo , Receptores Sensibles al Calcio/genética , Adulto , Quinasa 1 de Adhesión Focal/metabolismo , Quinasa 1 de Adhesión Focal/genética , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/patología , Neoplasias Uterinas/genética , Persona de Mediana Edad , Miometrio/metabolismo , Miometrio/patología , Inmunohistoquímica
5.
Cells ; 13(13)2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38994944

RESUMEN

Current medical therapies for fibroids have major limitations due to their hypoestrogenic side effects. Based on our previous work showing the activation of NF-kB in fibroids, we hypothesized that inhibiting NF-kB in vivo would result in the shrinkage of tumors and reduced inflammation. Fibroid xenografts were implanted in SCID mice and treated daily with Bay 11-7082 (Bay) or vehicle for two months. Bay treatment led to a 50% reduction in tumor weight. RNAseq revealed decreased expression of genes related to cell proliferation, inflammation, extracellular matrix (ECM) composition, and growth factor expression. Validation through qRT-PCR, Western blotting, ELISA, and immunohistochemistry (IHC) confirmed these findings. Bay treatment reduced mRNA expression of cell cycle regulators (CCND1, E2F1, and CKS2), inflammatory markers (SPARC, TDO2, MYD88, TLR3, TLR6, IL6, TNFα, TNFRSF11A, and IL1ß), ECM remodelers (COL3A1, FN1, LOX, and TGFß3), growth factors (PRL, PDGFA, and VEGFC), progesterone receptor, and miR-29c and miR-200c. Collagen levels were reduced in Bay-treated xenografts. Western blotting and IHC showed decreased protein abundance in certain ECM components and inflammatory markers, but not cleaved caspase three. Ki67, CCND1, and E2F1 expression decreased with Bay treatment. This preclinical study suggests NF-kB inhibition as an effective fibroid treatment, suppressing genes involved in proliferation, inflammation, and ECM remodeling.


Asunto(s)
Proliferación Celular , Leiomioma , Nitrilos , Sulfonas , Animales , Humanos , Sulfonas/farmacología , Sulfonas/uso terapéutico , Leiomioma/patología , Leiomioma/tratamiento farmacológico , Leiomioma/genética , Leiomioma/metabolismo , Femenino , Ratones , Nitrilos/farmacología , Proliferación Celular/efectos de los fármacos , Ratones SCID , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , FN-kappa B/metabolismo , Ensayos Antitumor por Modelo de Xenoinjerto , Línea Celular Tumoral , Neoplasias Uterinas/patología , Neoplasias Uterinas/genética , Neoplasias Uterinas/tratamiento farmacológico , Neoplasias Uterinas/metabolismo
6.
Cells ; 13(13)2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38994959

RESUMEN

Uterine leiomyosarcoma (uLMS) is the most common subtype of uterine sarcomas. They have a poor prognosis with high rates of recurrence and metastasis. The five-year survival for uLMS patients is between 25 and 76%, with survival rates approaching 10-15% for patients with metastatic disease at the initial diagnosis. Accumulating evidence suggests that several biological pathways are involved in uLMS pathogenesis. Notably, drugs that block abnormal functions of these pathways remarkably improve survival in uLMS patients. However, due to chemotherapy resistance, there remains a need for novel drugs that can target these pathways effectively. In this review article, we provide an overview of the recent progress in ascertaining the biological functions and regulatory mechanisms in uLMS from the perspective of aberrant biological pathways, including DNA repair, immune checkpoint blockade, protein kinase and intracellular signaling pathways, and the hedgehog pathway. We review the emerging role of epigenetics and epitranscriptome in the pathogenesis of uLMS. In addition, we discuss serum markers, artificial intelligence (AI) combined with machine learning, shear wave elastography, current management and medical treatment options, and ongoing clinical trials for patients with uLMS. Comprehensive, integrated, and deeper insights into the pathobiology and underlying molecular mechanisms of uLMS will help develop novel strategies to treat patients with this aggressive tumor.


Asunto(s)
Leiomiosarcoma , Neoplasias Uterinas , Humanos , Leiomiosarcoma/diagnóstico , Leiomiosarcoma/patología , Leiomiosarcoma/terapia , Leiomiosarcoma/tratamiento farmacológico , Leiomiosarcoma/genética , Femenino , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/tratamiento farmacológico , Neoplasias Uterinas/patología , Neoplasias Uterinas/genética , Neoplasias Uterinas/terapia , Pronóstico , Terapia Molecular Dirigida , Biomarcadores de Tumor/metabolismo
7.
J Med Case Rep ; 18(1): 323, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-39004746

RESUMEN

BACKGROUND: Diagnosing non-gestational uterine choriocarcinoma in children is challenging because of its rarity and nonspecific imaging findings. Herein, we report a case of non-gestational uterine choriocarcinoma in a child, which was unexpectedly found during exploratory laparotomy and confirmed by histopathological findings. However, the tumor did not respond to chemotherapy. CASE PRESENTATION: A 4-year-old Indonesian female patient was brought into the emergency unit with chief complaint of vaginal bleeding. She had suffered from vaginal spotting 4 months before being admitted to the hospital. Physical examination revealed a distended abdomen in the left lumbar region and a palpable fixed mass with a smooth surface. Abdominal computed tomography scans revealed a large mass (10 × 6 × 12 cm) with fluid density and calcification. Thus, we suspected left ovarian teratoma. The patient's luteinizing hormone, follicle-stimulating hormone, and lactate dehydrogenase levels were 25.2 mIU/ml, 0.1 mIU/ml, and 406 U/l, respectively. According to the clinical and radiological findings, we decided to perform an exploratory laparotomy and found a tumor originating from the uterus, not the ovarium. We did not observe liver nodules and any enlargement of abdominal lymph nodes. Subsequently, we performed hysterectomy. The histopathological findings supported the diagnosis of choriocarcinoma. The patient was discharged uneventfully on postoperative day 5. Thereafter, the patient underwent nine cycles of chemotherapy, including carboplatin (600 mg/m2 IV), etoposide (120 mg/m2 IV), and bleomycin (15 mg/m2 IV). However, on the basis of the clinical findings of a palpable mass and partial intestinal obstruction, the tumor relapsed soon after the ninth cycle of chemotherapy. Currently, the patient is undergoing chemotherapy again. CONCLUSIONS: Although pure non-gestational uterine choriocarcinoma is rare, it should be considered as one of the differential diagnoses for intraabdominal tumors in a child, so as to better guide and counsel families regarding the surgical plan and prognosis, respectively. In the present case, the patient's response to chemotherapy was poor, implying that the treatment of non-gestational choriocarcinoma is still challenging, particularly in the pediatric population.


Asunto(s)
Coriocarcinoma no Gestacional , Histerectomía , Neoplasias Uterinas , Humanos , Femenino , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/patología , Neoplasias Uterinas/tratamiento farmacológico , Neoplasias Uterinas/terapia , Preescolar , Coriocarcinoma no Gestacional/diagnóstico , Coriocarcinoma no Gestacional/patología , Coriocarcinoma no Gestacional/tratamiento farmacológico , Coriocarcinoma no Gestacional/terapia , Tomografía Computarizada por Rayos X , Diagnóstico Diferencial , Laparotomía , Hemorragia Uterina/etiología , Etopósido/uso terapéutico , Etopósido/administración & dosificación
8.
Rev Esp Patol ; 57(3): 176-181, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38971617

RESUMEN

Uterine mullerian adenosarcoma (MA) is a rare biphasic tumour that accounts for less than 0.5% of uterine neoplasms. The age range of presentation is wide, with the median age in the 5th decade of life. It usually has a good prognosis; however, it worsens when it presents with sarcomatous overgrowth, heterologous elements or infiltrates the myometrium. We report the case of a 63-year-old woman presenting with abnormal vaginal bleeding and a sensation of solid material coming out of the cervical canal who was diagnosed with mullerian adenosarcoma with sarcomatous overgrowth (MASO) and presence of heterologous elements after performing a mass biopsy and subsequent hysterectomy. We reviewed the literature, focusing especially on the differential diagnoses to be evaluated, as well as the differences in prognosis and treatment according to whether or not they present histologic features of poor prognosis.


Asunto(s)
Adenosarcoma , Neoplasias Uterinas , Humanos , Femenino , Adenosarcoma/patología , Persona de Mediana Edad , Neoplasias Uterinas/patología , Histerectomía , Sarcoma/patología , Diagnóstico Diferencial
9.
Vet Med Sci ; 10(4): e1520, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38979745

RESUMEN

An 11-year-old female cinnamon cockatiel (Nymphicus hollandicus) was presented with a coelomic distention. Dystocia was suspected, given its previous history of a calcium-deficient diet and multiple instances of nonobstructive dystocia. Exploratory coeliotomy revealed a large intraluminal mass extending through the magnum to the uterus (shell gland). Metastasis and multiorgan involvement were not seen. Histopathologically, malignant and invasive fascicles of spindle cells were associated with abundant myxoid matrix and hypocellular areas. Multinucleation, bizarre cells and atypical mitotic figures were prominent. Masson's trichrome staining verified the muscular origin, and the myxoid matrix was demonstrated utilizing Alcian blue. The neoplastic cells exhibited alpha-smooth muscle actin and desmin immunoreactivity and were negative for vimentin. Thus, the patient was diagnosed with oviductal and uterine myxoid leiomyosarcoma (LMS). The patient survived 34 days post-surgery before death associated with suspected enteritis. Myxoid LMS is an extremely rare neoplasm in animals. To our knowledge, myxoid LMS has not been reported previously in pet birds.


Asunto(s)
Enfermedades de las Aves , Cacatúas , Leiomiosarcoma , Oviductos , Neoplasias Uterinas , Femenino , Animales , Leiomiosarcoma/veterinaria , Leiomiosarcoma/patología , Leiomiosarcoma/cirugía , Neoplasias Uterinas/veterinaria , Neoplasias Uterinas/patología , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/diagnóstico , Enfermedades de las Aves/patología , Enfermedades de las Aves/cirugía , Enfermedades de las Aves/diagnóstico , Oviductos/patología , Resultado Fatal
10.
Diagn Pathol ; 19(1): 98, 2024 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-39020398

RESUMEN

BACKGROUND: Rhabdomyosarcomas are aggressive tumors that comprise a group of morphologically similar but biologically diverse lesions. Owing to its rarity, Mixed pattern RMS (ARMS and ERMS) constitutes a diagnostic and therapeutic dilemma. CASE: Herein is presented a very rare case of mixed alveolar & embryonal rhabdomyosarcoma in the uterus of a 68-year-old woman. The wall of the uterine corpus & cervix was replaced by multiple whitish-yellow, firm nodules, measuring up to 12 cm. Microscopically, the tumor was predominantly composed of round to polygonal cells arranged in nests with alveolar pattern intermingled with hypo- & hypercellular areas of more primitive cells with scattered multinucleated giant cells seen as well. Extensive sampling failed to show epithelial elements. Immunohistochemical staining showed positive staining for vimentin, desmin, myogenin, CD56 & WT-1. However, no staining was detected for CK, LCA, CD10, ER, SMA, CD99, S100, Cyclin-D1 & Olig-2. Metastatic deposits were found in the peritoneum. The patient received postoperative chemotherapy and radiotherapy but died of systemic metastases 3 months after surgery. CONCLUSION: The rarity of this histological tumor entity and its aggressive behavior and poor prognosis grab attention to improving recognition and treatment modalities in adults.


Asunto(s)
Biomarcadores de Tumor , Inmunohistoquímica , Neoplasias Uterinas , Humanos , Femenino , Anciano , Neoplasias Uterinas/patología , Biomarcadores de Tumor/análisis , Resultado Fatal , Rabdomiosarcoma Embrionario/patología , Rabdomiosarcoma Embrionario/terapia , Rabdomiosarcoma Embrionario/diagnóstico , Rabdomiosarcoma/patología , Rabdomiosarcoma/diagnóstico , Rabdomiosarcoma Alveolar/patología , Rabdomiosarcoma Alveolar/terapia
11.
Medicine (Baltimore) ; 103(28): e38885, 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38996160

RESUMEN

RATIONALE: Uterine adenomyomas (UAs) are common benign tumors, usually not exceeding 280 g or the weight of the uterus at 12 weeks gestation. Postmenopausal giant UAs of diameter larger than 20 cm are rare, as well as steatosis, but curable by surgical excision. Few cases of postmenopausal giant UAs have been reported. PATIENT CONCERNS: Herein, we report a case of a 70-year-old female patient who presented with a giant pelvic tumor of about 20 cm × 18 cm × 20 cm with postmenopausal vaginal bleeding, and whose radiographic manifestations did not exclude the possibility of uterine malignancy. DIAGNOSES: Histopathology confirms an adenomyoma with partial adipose metaplasia. INTERVENTIONS: We did an open laparotomy of hysterectomy, bi-adnexectomy, and pelvic adhesion release for the patient. OUTCOMES: Pathology revealed adenomyoma with adipose metaplasia. The patient recovered well and was discharged on postoperative day 7 with satisfactory follow-up.


Asunto(s)
Adenomioma , Metaplasia , Posmenopausia , Neoplasias Uterinas , Humanos , Femenino , Anciano , Adenomioma/patología , Adenomioma/cirugía , Adenomioma/diagnóstico por imagen , Metaplasia/patología , Neoplasias Uterinas/patología , Neoplasias Uterinas/cirugía , Tejido Adiposo/patología , Histerectomía
12.
Medicine (Baltimore) ; 103(28): e38800, 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38996113

RESUMEN

RATIONALE: Uterine carcinosarcoma (UCS) is a rare and highly invasive malignant tumor.It exhibits an ectopic growth pattern of the uterus,and its histological features are biphasic differentiation of malignant epithelial components (cancer) and malignant mesenchymal components (sarcoma). The pathological pattern of high-component neuroendocrine differentiation is extremely rare. Due to the inherent heterogeneity of tumors, it increases the difficulty of accurate identification and diagnosis. The author introduces a rare case of primary endometrial carcinosarcoma (heterologous) with small cell neuroendocrine carcinoma (SCNEC) components. There is limited literature on this rare pathological differentiation pattern and a lack of guidelines for the best treatment methods, which prompts reflection on the diagnosis, optimal treatment strategies, and how preoperative diagnosis can affect patient prognosis for endometrial carcinosarcoma with neuroendocrine differentiation. PATIENT CONCERNS: The patient is an elderly woman who presents with abnormal vaginal bleeding after menopause. Transvaginal ultrasound examination shows that the uterus is slightly enlarged, and there is a lack of homogeneous echogenicity in the uterine cavity. Subsequently, a hysteroscopic curettage was performed, and a space-occupying lesion was observed on the anterior wall of the uterine cavity. DIAGNOSES: Preoperative endometrial biopsy revealed SCNEC of the endometrium. The patient underwent radical hysterectomy, and the postoperative pathological results showed that UCS (heterologous) was accompanied by SCNEC components (about 80%). INTERVENTION: The patient received radical hysterectomy, followed by adjuvant chemotherapy. OUTCOME: After 7 months of follow-up, no tumor recurrence or metastasis was found at the time of writing this article. LESSONS: The histological type of UCS (heterologous) with cell neuroendocrine carcinoma components is rare and highly invasive, with a high misdiagnosis rate in preoperative biopsy. There are currently no effective treatment guidelines for this type of case. The unusual appearance of SCNEC components in this case poses a challenge for both pathologists and surgeon. The rare differentiation pattern of this case exposes the complexity of its management and the necessity of prospective trials to determine the optimal treatment plan.


Asunto(s)
Carcinosarcoma , Neoplasias Uterinas , Humanos , Femenino , Carcinosarcoma/diagnóstico , Carcinosarcoma/patología , Carcinosarcoma/terapia , Carcinosarcoma/cirugía , Neoplasias Uterinas/patología , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía , Carcinoma Neuroendocrino/patología , Carcinoma Neuroendocrino/diagnóstico , Carcinoma Neuroendocrino/cirugía , Anciano , Histerectomía/métodos , Neoplasias Endometriales/patología , Neoplasias Endometriales/diagnóstico , Neoplasias Endometriales/terapia
13.
Medicine (Baltimore) ; 103(27): e38824, 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38968462

RESUMEN

To investigate the clinicopathological features, diagnosis, surgical treatment and prognosis of uterine tumors similar to ovarian sex cord tumors (UTROSCT). The clinical data, surgical approach, histopathological, and immunohistochemical features of 7 cases of UTROSCTs were retrospectively reviewed and followed up. All 4 patients were premenopausal women. The most common clinical presentation was menorrhagia (n = 4) followed by postmenopausal lower abdominal mass (n = 2) and postmenopausal bleeding (n = 1). Gynecological ultrasonography suggested uterine fibroids in 4 cases, adenomyosis with uterine fibroids in 2 cases, and an intrauterine mass in 1 case. Pelvic MRI was performed preoperatively in only 2 cases, and both indicated uterine fibroid degeneration, including 1 patient with suspected malignancy. Preoperative serum tumor markers were measured in 6 patients, and only 1 patient had elevated CA125 levels, up to 158 U/mL. Total hysterectomy with bilateral adnexectomy or salpingectomy was the most common treatment pattern (n = 6). The tumors were located within the myometrium (n = 4), submucosa (n = 1), and isthmus to external cervical os (n = 1), with a range of 2 to 12 (mean = 8) cm. Edema and degeneration were observed in 2 cases, and necrosis in 1 case. Postoperative follow-up ranged from 31 to 82 (mean = 43) months. Unfortunately, 1 patient died at 54 months of follow-up without undergoing hysterectomy. The remaining 6 cases showed no tumor recurrence or metastasis after surgery. Histological examination revealed a tumor composed of epithelioid tumor-like cells arranged in cords, trabeculae, and nests. All 7 tumors showed expression of 2 sex cord differentiation markers. Furthermore, all tumors expressed the smooth muscle marker, while epithelial marker CK (4/7). endometrial stromal marker CD10(0/7). The Ki-67 proliferation index was found to be <5% (5/7). The option of total hysterectomy may be considered for women who do not have any fertility requirements. However, for young women who desire to maintain their reproductive capacity, surgery to preserve the uterus may be an alternative, although it necessitates careful postoperative monitoring. In terms of follow-up monitoring, MRI is more suitable than ultrasound. The diagnosis of UTROSCT heavily relies on histopathological examination and immunohistochemical analysis.


Asunto(s)
Neoplasias Ováricas , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Neoplasias Uterinas , Humanos , Femenino , Estudios Retrospectivos , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Adulto , Persona de Mediana Edad , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/patología , Neoplasias Uterinas/diagnóstico , Neoplasias Ováricas/patología , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Diagnóstico Diferencial , Histerectomía , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/análisis , Antígeno Ca-125/sangre
14.
Anticancer Res ; 44(8): 3331-3336, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39060085

RESUMEN

BACKGROUND/AIM: Uterine leiomyosarcomas (uLMS) are the most common mesenchymal tumors of the female genital tract. uLMS genetics encompass complex karyotypes with no specific molecular alterations. The Hippo pathway has been implicated in the pathogenesis of epithelioid hemangio-endotheliomas and endometrial sarcomas. Hippo pathway effectors are YAP1 and TAZ co-transcriptional factors. PATIENTS AND METHODS: We studied Hippo pathway in a series of 32 uLMS patients and its association with clinicopathological parameters. MATERIALS AND METHODS: Immunohistochemical analysis of YAP1 and TAZ proteins accompanied with fluorescent in situ hybridization study of YAP1 gene was performed in patient samples. Age, sex, tumor size, stage at the time of diagnosis and treatment have been analyzed. Overall survival (OS) was calculated from the time of diagnosis until death, loss of follow up or data cut-off. RESULTS: Hippo signaling was found to be dysregulated in 20 (62.5%) patients with uLMS. Regarding OS we detected a trend of Hippo deregulation, designating it as a positive prognostic factor. CONCLUSION: The Hippo pathway is implicated in uLMS oncogenesis, since nuclear expression of YAP1 was detected in 17 (53.1%) of the 32 patients with immunohistochemistry and YAP1 amplification was found in 8 (25%) patients.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Vía de Señalización Hippo , Leiomiosarcoma , Proteínas Serina-Treonina Quinasas , Transducción de Señal , Factores de Transcripción , Neoplasias Uterinas , Proteínas Señalizadoras YAP , Humanos , Femenino , Leiomiosarcoma/genética , Leiomiosarcoma/patología , Leiomiosarcoma/metabolismo , Neoplasias Uterinas/patología , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/genética , Persona de Mediana Edad , Proteínas Serina-Treonina Quinasas/genética , Proteínas Serina-Treonina Quinasas/metabolismo , Proteínas Señalizadoras YAP/metabolismo , Proteínas Señalizadoras YAP/genética , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Anciano , Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Adulto , Pronóstico , Inmunohistoquímica , Hibridación Fluorescente in Situ , Regulación Neoplásica de la Expresión Génica , Proteínas Coactivadoras Transcripcionales con Motivo de Unión a PDZ
15.
Medicina (Kaunas) ; 60(7)2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-39064514

RESUMEN

Background: Mesenchymal uterine tumors are a diverse group of neoplasms with varying biological potential. Many of these neoplasms can have overlapping morphologic similarities, which, in some instances, render their diagnosis and categorization thorough histomorphologic examination inconclusive. In the last decade, an exponential amount of molecular data aiming to more accurately characterize and, consequently, treat these tumors have accumulated. Objective: The goal of this narrative review is to provide a pathologic review, a genetic update, and to know the new therapeutic avenues of primary uterine mesenchymal neoplasms.


Asunto(s)
Neoplasias Uterinas , Humanos , Femenino , Neoplasias Uterinas/genética , Neoplasias Uterinas/terapia , Neoplasias Uterinas/patología
16.
Medicine (Baltimore) ; 103(27): e38108, 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38968534

RESUMEN

RATIONALE: Epithelioid trophoblastic tumor (ETT) is an extremely rare variant of gestational trophoblastic neoplasms (GTNs). The biological behavior and therapeutic schedule of ETT remains to be defined which frequently poses diagnostic and therapeutic challenges. Although ETT is a relatively indolent malignancy tumor, the therapeutic efficacy and survival rate decrease significantly when presented with metastases. The lung is the most common site of ETT metastasis. PATIENT CONCERNS: A 39-year-old female patient presented with irregular vaginal bleeding and slight distention pain in lower abdomen. DIAGNOSES: The patient was diagnosed ETT with lung metastasis after surgery and immunohistochemical staining. INTERVENTIONS: A total abdominal hysterectomy plus bilateral salpingectomy and histopathology were performed. The patient received 3 cycles of etoposide, methotrexate, actinomycin-D/etoposide, cisplatin (EMA/EP) regimen chemotherapy after surgery. Due to the presence of lung metastasis, she received pulmonary lesion resection and another cycle of postoperative chemotherapy. OUTCOMES: The patients showed a good response to treatment initially. However, the patient did not complete the full initial treatment for family reasons and had signs of recurrence after 2.5 months. The serum ß-hCG level gradually elevated and the lung imaging showed that the lesion area gradually expanded. After 15 months of follow-up, the patient declined further treatment due to a lack of presenting symptoms. LESSONS: The diagnosis of ETT should be taken into consideration in patients with abnormal vaginal bleeding and low levels of ß-hCG. Patients with metastatic disease should be treated with complete surgical resection and intensive combination chemotherapy to maximize the opportunity for cure. Targeted biological agents might be potential therapeutic strategies for chemotherapy-resistant or recurrent patients.


Asunto(s)
Neoplasias Pulmonares , Neoplasias Uterinas , Humanos , Femenino , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/patología , Adulto , Neoplasias Uterinas/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Trofoblásticas/secundario , Neoplasias Trofoblásticas/patología , Embarazo , Histerectomía/métodos
17.
Diagn Pathol ; 19(1): 94, 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38970112

RESUMEN

BACKGROUND: Uterine sarcoma is a rare and heterogeneous gynecological malignancy characterized by aggressive progression and poor prognosis. The current study aimed to investigate the relationship between clinicopathological characteristics and the prognosis of uterine sarcoma in Chinese patients. METHODS: In this single-center retrospective study, we reviewed the medical records of 75 patients with histologically verified uterine sarcoma treated at the First Affiliated Hospital of Xi'an Jiaotong University between 2011 and 2020. Information on clinical characteristics, treatments, pathology and survival was collected. Progression-free survival (PFS) and overall survival (OS) were visualized in Kaplan-Meier curves. Prognostic factors were identified using the log-rank test for univariate analysis and Cox-proportional hazards regression models for multivariate analysis. RESULTS: The histopathological types included 36 endometrial stromal sarcomas (ESS,48%), 33 leiomyosarcomas (LMS,44%) and 6 adenosarcomas (8%). The mean age at diagnosis was 50.2 ± 10.7 years. Stage I and low-grade accounted for the majority. There were 26 recurrences and 25 deaths at the last follow-up. The mean PFS and OS were 89.41 (95% CI: 76.07-102.75) and 94.03 (95% CI: 81.67-106.38) months, respectively. Univariate analysis showed that > 50 years, post-menopause, advanced stage, ≥ 1/2 myometrial invasion, lymphovascular space invasion and high grade were associated with shorter survival (P < 0.05). Color Doppler flow imaging positive signals were associated with shorter PFS in the LMS group (P = 0.046). The ESS group had longer PFS than that of the LMS group (99.56 vs. 76.05 months, P = 0.043). The multivariate analysis showed that post-menopause and advanced stage were independent risk factors of both PFS and OS in the total cohort and LMS group. In the ESS group, diagnosis age > 50 years and high-grade were independent risk factors of PFS, while high-grade and lymphovascular space invasion were independent risk factors of OS. CONCLUSION: In Chinese patients with uterine sarcoma, post-menopause and advanced stage were associated with a significantly poorer prognosis. The prognosis of ESS was better than that of LMS. Color Doppler flow imaging positive signals of the tumor helped to identify LMS, which needs to be further tested in a larger sample in the future.


Asunto(s)
Neoplasias Uterinas , Humanos , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias Uterinas/patología , Neoplasias Uterinas/mortalidad , China/epidemiología , Adulto , Pronóstico , Sarcoma Estromático Endometrial/patología , Sarcoma Estromático Endometrial/mortalidad , Sarcoma/patología , Sarcoma/mortalidad , Leiomiosarcoma/patología , Leiomiosarcoma/mortalidad , Anciano , Adenosarcoma/patología , Adenosarcoma/mortalidad , Adenosarcoma/terapia , Supervivencia sin Progresión
18.
Endocrinology ; 165(8)2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38946397

RESUMEN

Uterine leiomyoma or fibroids are prevalent noncancerous tumors of the uterine muscle layer, yet their origin and development remain poorly understood. We analyzed RNA expression profiles of 15 epigenetic mediators in uterine fibroids compared to myometrium using publicly available RNA sequencing (RNA-seq) data. To validate our findings, we performed RT-qPCR on a separate cohort of uterine fibroids targeting these modifiers confirming our RNA-seq data. We then examined protein profiles of key N6-methyladenosine (m6A) modifiers in fibroids and their matched myometrium, showing no significant differences in concordance with our RNA expression profiles. To determine RNA modification abundance, mRNA and small RNA from fibroids and matched myometrium were analyzed by ultra-high performance liquid chromatography-mass spectrometry identifying prevalent m6A and 11 other known modifiers. However, no aberrant expression in fibroids was detected. We then mined a previously published dataset and identified differential expression of m6A modifiers that were specific to fibroid genetic subtype. Our analysis also identified m6A consensus motifs on genes previously identified to be dysregulated in uterine fibroids. Overall, using state-of-the-art mass spectrometry, RNA expression, and protein profiles, we characterized and identified differentially expressed m6A modifiers in relation to driver mutations. Despite the use of several different approaches, we identified limited differential expression of RNA modifiers and associated modifications in uterine fibroids. However, considering the highly heterogenous genomic and cellular nature of fibroids, and the possible contribution of single molecule m6A modifications to fibroid pathology, there is a need for greater in-depth characterization of m6A marks and modifiers in a larger and diverse patient cohort.


Asunto(s)
Adenosina , Leiomioma , Neoplasias Uterinas , Leiomioma/genética , Leiomioma/metabolismo , Humanos , Femenino , Adenosina/análogos & derivados , Adenosina/metabolismo , Neoplasias Uterinas/genética , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/patología , Miometrio/metabolismo , Miometrio/patología , Persona de Mediana Edad , Adulto , ARN Mensajero/metabolismo , ARN Mensajero/genética , ARN/genética , ARN/metabolismo , Procesamiento Postranscripcional del ARN , Epigénesis Genética
19.
Front Immunol ; 15: 1422342, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39076998

RESUMEN

Invasive lobular breast cancer (ILC) is characterized by a relatively high risk for late recurrence and a unique metastatic pattern with an increased risk for metastasis to gynecologic organs and peritoneum. We present a unique case of recurrent ILC with metastasis to the abdominal peritoneum as well as the uterine myometrium and cervix. Treatment was complicated by the discovery of concomitant uterine carcinosarcoma. This patient was effectively treated with a combination of hormonal therapy for her metastatic ILC and a combination of chemotherapy and immunotherapy for uterine carcinosarcoma. Molecular evaluation revealed a characteristic CDH1 mutation within the ILC and a PI3KCA mutation within the uterine carcinosarcoma, both of which have been linked to epithelial-to-mesenchymal transitions. Examination of the tumor immune microenvironment revealed proportionally more cytotoxic NK cells. This robust immune infiltration may be an indicator of the response to immunotherapy observed in this tumor or a result of the metastatic breast cancer within the uterus. This report provides a characterization of the molecular and immunologic landscape in this case with metastatic ILC and uterine carcinosarcoma.


Asunto(s)
Neoplasias de la Mama , Carcinoma Lobular , Carcinosarcoma , Inmunoterapia , Neoplasias Uterinas , Humanos , Femenino , Carcinosarcoma/terapia , Carcinosarcoma/inmunología , Carcinosarcoma/genética , Neoplasias Uterinas/terapia , Neoplasias Uterinas/genética , Neoplasias Uterinas/inmunología , Neoplasias Uterinas/patología , Carcinoma Lobular/inmunología , Carcinoma Lobular/terapia , Carcinoma Lobular/secundario , Carcinoma Lobular/genética , Inmunoterapia/métodos , Neoplasias de la Mama/terapia , Neoplasias de la Mama/inmunología , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Persona de Mediana Edad , Antígenos CD/genética , Antígenos CD/inmunología , Mutación , Microambiente Tumoral/inmunología , Fosfatidilinositol 3-Quinasa Clase I/genética , Cadherinas/genética , Células Asesinas Naturales/inmunología
20.
J Int Med Res ; 52(6): 3000605241255810, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38886867

RESUMEN

Pelvic masses frequently originate from the pelvic cavity and are often associated with uterine, ovarian, or intestinal disorders. This report describes the case of a patient with a pelvic mass diagnosed as a retroperitoneal dermoid cyst at our hospital. We analyzed this case and conducted a literature review, to mitigate the risk of misdiagnosis and enhance the treatment of retroperitoneal masses.


Asunto(s)
Adenomioma , Quiste Dermoide , Neoplasias Retroperitoneales , Neoplasias Uterinas , Humanos , Femenino , Quiste Dermoide/cirugía , Quiste Dermoide/complicaciones , Quiste Dermoide/diagnóstico , Quiste Dermoide/patología , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/complicaciones , Neoplasias Retroperitoneales/diagnóstico por imagen , Neoplasias Retroperitoneales/diagnóstico , Neoplasias Retroperitoneales/cirugía , Neoplasias Uterinas/patología , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/diagnóstico por imagen , Adenomioma/patología , Adenomioma/cirugía , Adenomioma/complicaciones , Adenomioma/diagnóstico , Adenomioma/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adulto
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