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1.
Arch. argent. pediatr ; 122(2): e202310146, abr. 2024. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1537953

RESUMO

Los tumores de músculo liso que no pueden ser clasificados según su histología como leiomiomas o leiomiosarcomas se denominan tumores de músculo liso de comportamiento maligno incierto. La localización nasal de estos tumores es muy infrecuente y la extensión adecuada de la cirugía para tratar estas neoplasias no está bien definida. Se describe el caso clínico de una adolescente de 16 años, que consultó por padecer un tumor de aspecto vascular en la cavidad nasal derecha y que fue tratada con éxito mediante cirugía intranasal. El diagnóstico histológico fue tumor de músculo liso de comportamiento maligno incierto. Por la rareza de estas neoplasias, su infrecuente localización nasal y la falta de evidencia que soporte cuál debe ser la extensión de la cirugía, es relevante la descripción y discusión del caso clínico.


Smooth muscle tumors that cannot be histologically classified as leiomyomas or leiomyosarcomas are defined as smooth muscle tumors of uncertain malignant potential. The location of these tumors in the nose is very rare, and the appropriate surgical extent to manage these neoplasms has not been adequately defined. Here we describe the case of a 16-year-old female adolescent who consulted due to a vascular-like tumor in the right nasal cavity who was successfully treated with intranasal surgery. The histological diagnosis was smooth muscle tumor of uncertain malignant potential. Given that these neoplasms are rare, the uncommon location in the nose, and the lack of evidence indicating the extent of surgery, it is relevant to describe and discuss this clinical case.


Assuntos
Humanos , Feminino , Adolescente , Tumor de Músculo Liso/cirurgia , Tumor de Músculo Liso/diagnóstico , Tumor de Músculo Liso/patologia , Leiomioma/patologia , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/patologia
2.
Medicine (Baltimore) ; 103(16): e37877, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38640263

RESUMO

RATIONALE: Inflammatory fibroid polyp (IFP), also known as Vanek tumor, is a rare, benign gastrointestinal lesion characterized by its inflammatory and fibroid histological features. IFP is often discovered incidentally during endoscopic examinations. It is exceedingly rare for an IFP to prolapse into the duodenum and results in incomplete obstruction of the pylorus. PATIENT CONCERNS: A 64-year-old male patient was admitted to the hospital with recurrent episodes of melena over a 6-month period, along with complaints of dizziness and fatigue in the past 10 days. DIAGNOSES: Gastroscopy showed a giant polypoid mass on the posterior wall of the gastric antrum, prolapsing into the duodenum. Abdominal computer tomography (CT) confirmed the tumor protruding into the duodenum. Pathologic examination of the resected specimen confirmed the IFP diagnosis. INTERVENTIONS: The giant tumor was completely and successfully excised using endoscopic submucosal dissection (ESD). After the surgery, the patient underwent acid suppression and fluid replenishment therapy. OUTCOMES: The patient responded well to ESD and was discharged in stable condition. As of the submission of the case report, there has been no recurrence of the tumor after a 5-month follow-up, and the patient is still under follow-up. LESSONS: While IFPs have traditionally been managed surgically, ESD demonstrates promising treatment outcomes, avoiding the need for surgical distal gastrectomy, and emerges as a safe and effective treatment option.


Assuntos
Ressecção Endoscópica de Mucosa , Neoplasias Gastrointestinais , Leiomioma , Pólipos , Neoplasias Gástricas , Masculino , Humanos , Pessoa de Meia-Idade , Antro Pilórico/cirurgia , Antro Pilórico/patologia , Neoplasias Gástricas/complicações , Neoplasias Gástricas/cirurgia , Neoplasias Gástricas/diagnóstico , Pólipos/complicações , Pólipos/cirurgia , Gastroscopia , Neoplasias Gastrointestinais/patologia , Duodeno/patologia , Leiomioma/complicações , Leiomioma/cirurgia , Leiomioma/patologia
3.
Nutrients ; 16(6)2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38542717

RESUMO

Uterine fibroids (UFs) are the most common prevalent benign tumor among women of reproductive age, disproportionately affecting women of color. This paper introduces an innovative management strategy for UFs, emphasizing the curbing of disease prevention and progression. Traditionally, medical intervention is deferred until advanced stages, necessitating invasive surgeries such as hysterectomy or myomectomy, leading to high recurrence rates and increased healthcare costs. The strategy, outlined in this review, emphasizes UF disease management and is named LIFE UP awareness-standing for Lifestyle Interventions, Food Modifications, and Environmental Practices for UF Prevention. These cost-effective, safe, and accessible measures hold the potential to prevent UFs, improve overall reproductive health, reduce the need for invasive procedures, and generate substantial cost savings for both individuals and healthcare systems. This review underscores the importance of a proactive UF management method, paving the way for future research and policy initiatives in this domain.


Assuntos
Leiomioma , Miomectomia Uterina , Neoplasias Uterinas , Feminino , Humanos , Neoplasias Uterinas/prevenção & controle , Neoplasias Uterinas/patologia , Leiomioma/prevenção & controle , Leiomioma/patologia , Estilo de Vida , Poder Psicológico
4.
Genes Chromosomes Cancer ; 63(3): e23229, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38481055

RESUMO

A close relationship has been demonstrated between genomic complexity and clinical outcome in uterine smooth muscle tumors. We studied the genomic profiles by array-CGH of 28 fumarate hydratase deficient leiomyomas and 37 leiomyomas with bizarre nuclei (LMBN) from 64 patients. Follow-up was available for 46 patients (from three to 249 months, mean 87.3 months). All patients were alive without evidence of disease. For 51 array-CGH interpretable tumors the mean Genomic Index (GI) was 16.4 (median: 9.8; from 1 to 57.8), significantly lower than the mean GI in LMS (mean GI 51.8, p < 0.001). We described three groups: (1) a group with FH deletion (24/58) with low GI (mean GI: 11 vs. 22,4, p = 0.02), (2) a group with TP53 deletion (17/58) with higher GI (22.4 vs. 11 p = 0.02), and (3) a group without genomic events on FH or TP53 genes (17/58) (mean GI:18.3; from 1 to 57.8). Because none of these tumors recurred and none showed morphological features of LMS we concluded that GI at the cut-off of 10 was not applicable in these subtypes of LM. By integration of all those findings, a GI <10 in LMBN remains a valuable argument for benignity. Conversely, in LMBN a GI >10 or alteration in tumor suppressor genes, should not alone warrant a diagnosis of malignancy. Nine tumors were tested with Nanocind CINSARC® signature and all were classified in low risk of recurrence. We propose, based on our observations, a diagnostic approach of these challenging lesions.


Assuntos
Leiomioma , Neoplasias Uterinas , Feminino , Humanos , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Fumarato Hidratase/genética , Leiomioma/genética , Leiomioma/patologia , Genes p53 , Genômica
5.
Anticancer Res ; 44(4): 1465-1473, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38537953

RESUMO

BACKGROUND/AIM: Uterine leiomyosarcoma (uLMS) is a rare, highly malignant, and invasive cancer, with early metastasis. Mismatch repair (MMR) proteins and matrix metalloproteinases (MMPs) are associated with the occurrence, proliferation, and invasion of most malignant cancers; however, their abnormal expression in uLMS remains poorly clarified. PATIENTS AND METHODS: Immunohistochemistry was performed to assess MMR protein and MMP2/9 expression as well as Ki67 marker proliferation in benign and malignant uterine smooth muscle tumors. Data from 28 cases of uterine leiomyoma and 31 cases of uLMS were analyzed. RESULTS: Tumor tissues from patients with uLMS had higher expression levels of MMP2 (p<0.001), MMP9 (p<0.05), and Ki67 (p<0.001) than those from patients with uterine leiomyoma; MMR protein expression showed the opposite trend (p<0.05). uLMS proliferation and metastasis correlated positively with MMP2 (p=0.012 and 0.015, respectively) but negatively with MMP9 (p=0.021 and 0.04, respectively). MMR protein expression did not correlate with uLMS proliferation or metastasis (p>0.05). CONCLUSION: Expression levels of MMP2 and MMP9 were upregulated in malignant uLMS tumors when compared with those in benign uterine leiomyoma tumors. Increased MMP2 expression might promote uLMS invasion and migration. MMP9 overexpression might be related to uLMS occurrence; however, it protects against uLMS invasion and metastasis. MMP2 and MMP9 may be potential predictors of uLMS cell proliferation, metastasis, and prognosis. These findings could be helpful in developing new strategies for diagnosing and treating uLMS.


Assuntos
Leiomioma , Leiomiossarcoma , Neoplasias Pélvicas , Neoplasias Uterinas , Feminino , Humanos , Leiomiossarcoma/patologia , Metaloproteinase 9 da Matriz , Metaloproteinase 2 da Matriz , Antígeno Ki-67 , Neoplasias Uterinas/patologia , Leiomioma/patologia
6.
Nat Commun ; 15(1): 1169, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38326302

RESUMO

Uterine fibroids (UF), that can disrupt normal uterine function and cause significant physical and psychological health problems, are observed in nearly 70% of women of reproductive age. Although heritable genetics is a significant risk factor, specific genetic variations and gene targets causally associated with UF are poorly understood. Here, we performed a meta-analysis on existing fibroid genome-wide association studies (GWAS) and integrated the identified risk loci and potentially causal single nucleotide polymorphisms (SNPs) with epigenomics, transcriptomics, 3D chromatin organization from diverse cell types as well as primary UF patient's samples. This integrative analysis identifies 24 UF-associated risk loci that potentially target 394 genes, of which 168 are differentially expressed in UF tumors. Critically, integrating this data with single-cell gene expression data from UF patients reveales the causal cell types with aberrant expression of these target genes. Lastly, CRISPR-based epigenetic repression (dCas9-KRAB) or activation (dCas9-p300) in a UF disease-relevant cell type further refines and narrows down the potential gene targets. Our findings and the methodological approach indicate the effectiveness of integrating multi-omics data with locus-specific epigenetic editing approaches for identifying gene- and celt type-targets of disease-relevant risk loci.


Assuntos
Estudo de Associação Genômica Ampla , Leiomioma , Humanos , Feminino , Epigenômica , Leiomioma/patologia , Fatores de Risco , Perfilação da Expressão Gênica , Polimorfismo de Nucleotídeo Único
7.
Gynecol Obstet Invest ; 89(2): 73-86, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38382486

RESUMO

BACKGROUND: Uterine fibroids are benign monoclonal tumors originating from the smooth muscle cells of the myometrium, constituting the most prevalent pathology within the female genital tract. Uterine sarcomas, although rare, still represent a diagnostic challenge and should be managed in centers with adequate expertise in gynecological oncology. OBJECTIVES: This article is aimed to summarize and discuss cutting-edge elements about the diagnosis and management of uterine fibroids and sarcomas. METHODS: This paper is a report of the lectures presented in an expert meeting about uterine fibroids and sarcomas held in Palermo in February 2023. OUTCOME: Overall, the combination of novel molecular pathways may help combine biomarkers and expert ultrasound for the differential diagnosis of uterine fibroids and sarcomas. On the one hand, molecular and cellular maps of uterine fibroids and matched myometrium may enhance our understanding of tumor development compared to histologic analysis and whole tissue transcriptomics, and support the development of minimally invasive treatment strategies; on the other hand, ultrasound imaging allows in most of the cases a proper mapping the fibroids and to differentiate between benign and malignant lesions, which need appropriate management. CONCLUSIONS AND OUTLOOK: The choice of uterine fibroid management, including pharmacological approaches, surgical treatment, or other strategies, such as high-intensity focused ultrasound (HIFU), should be carefully considered, taking into account the characteristics of the patient and reproductive prognosis.


Assuntos
Ablação por Ultrassom Focalizado de Alta Intensidade , Leiomioma , Sarcoma , Miomectomia Uterina , Neoplasias Uterinas , Feminino , Humanos , Resultado do Tratamento , Leiomioma/diagnóstico , Leiomioma/terapia , Leiomioma/patologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/terapia , Neoplasias Uterinas/patologia , Prognóstico , Sarcoma/diagnóstico , Sarcoma/terapia , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos
8.
Artigo em Inglês | MEDLINE | ID: mdl-38359581

RESUMO

The worldwide growth of robot-assisted laparoscopic surgery has been exponential since its FDA approval for use in gynecologic surgery in the spring of 2005. This growth has spanned the entire gamut of gynecologic procedures and pathology. One area that has leveraged the unique aspects of robotics has been its application to the conservative surgical management of uterine fibroids. This manuscript will review the surgical technique and highlight the current situation regarding the scientific literature with an evidence-based focus on the role of robot-assisted laparoscopic myomectomy (RALM) with the daVinci Surgical System (Intuitive Surgical, Sunnyvale, CA).


Assuntos
Laparoscopia , Leiomioma , Robótica , Miomectomia Uterina , Neoplasias Uterinas , Feminino , Humanos , Miomectomia Uterina/métodos , Estudos Retrospectivos , Leiomioma/cirurgia , Leiomioma/patologia , Laparoscopia/métodos , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/patologia
9.
Arch Gynecol Obstet ; 309(3): 1043-1052, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38194092

RESUMO

PURPOSE: To determine the ablation efficacy of transabdominal ultrasound- and laparoscopy-guided percutaneous microwave ablation (PMWA), to investigate whether the risk of damage to adjacent organs and endometrium due to this technique can be reduced or even avoided. We also evaluated the clinical efficacy of this technique in the treatment of uterine fibroids of different sizes and at different locations over a 24-month follow-up period. METHODS: This study included 50 patients with uterine fibroids who underwent transabdominal ultrasound- and laparoscopy-guided PMWA from August 2018 to July 2020. Lesions were confirmed by pathology. The technical efficacy and complications of PMWA were assessed. The lesion diameter, lesion volume, lesion location, and contrast-enhanced ultrasound (CEUS) features before PMWA and within 24 h after PMWA were recorded. Magnetic resonance imaging (MRI) was used for follow-up at 3 and 6 months after PMWA. Transvaginal ultrasound was used for follow-up at 24 months after PMWA. RESULTS: A total of 50 patients with uterine fibroids received treatment. The median ablation rate of uterine fibroids was 97.21%. The mean lesion volume reduction rates were 32.63%, 57.26%, and 92.64% at 3, 6, and 24 months after treatment, respectively. The size and location of uterine fibroids did not significantly affect the ablation rate and the rate of lesion volume reduction. No major complication was found during and after the procedure. CONCLUSION: Transabdominal ultrasound- and laparoscopy-guided PMWA can be utilized to safely enhance the ablation rate while minimizing ablation time and avoiding harm to adjacent organs and the endometrium. This technique is applicable for treating uterine fibroids of different sizes and at varying locations. TRIAL REGISTRATION NUMBER: ChiCTR-IPR-17011910, and date of trial registration: 08/07/2017.


Assuntos
Ablação por Ultrassom Focalizado de Alta Intensidade , Laparoscopia , Leiomioma , Neoplasias Uterinas , Feminino , Humanos , Micro-Ondas/uso terapêutico , Seguimentos , Leiomioma/diagnóstico por imagem , Leiomioma/cirurgia , Leiomioma/patologia , Ultrassonografia , Laparoscopia/métodos , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Resultado do Tratamento , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/patologia
10.
BMC Womens Health ; 24(1): 7, 2024 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-38166995

RESUMO

BACKGROUND: In this study, the prognostic and reproductive outcomes of women who underwent excision of uterine myomas and were sutured using different techniques while undergoing a cesarean section were investigated. METHODS: A total of 299 females who underwent cesarean section between January 2015 and June 2022 due to a scarred uterus were enrolled in this study. These participants were segregated into two categories: the experimental group (comprising 155 cases) in which uterine myoma (single lesion) was excised during the cesarean procedure, and the control group (consisting of 144 cases) in which only the cesarean section was conducted. A comparison between the two groups was carried out based on the following parameters: volume of intraoperative bleeding (mL), additional measures taken for intraoperative hemostasis (n, %), percentage (%) of patients experiencing postoperative fever, duration required for the passage of gas (hours [h]), length of hospital stay (days [d]), weight of newborns (kg) and their Apgar scores, and the reproductive outcomes of the experimental group assessed two years after the surgical procedure. RESULTS: In the experimental group, the amount of bleeding during surgery, occurrence of postoperative fever among women, time taken for patients to resume passing gas, and length of hospital stay were 540.65 ± 269.12 mL, 9.03%, 15.99 ± 4.68 h, and 5.08 ± 1.18 days, respectively. In contrast, the control group had values of 409.03 ± 93.24 mL, 2.77%, 16.24 ± 4.92, and 4.47 ± 0.70 days, respectively (P < 0.05). No notable increase was observed in the need for additional intraoperative hemostasis measures, and there was no significant difference in the time it took for patients to pass gas after the surgery. All newborns had positive health status. In the experimental group, 25 patients underwent subsequent pregnancies, and 15 of them successfully reached full-term deliveries, all of which had positive outcomes. CONCLUSION: Combining myomectomy with various suture methods during cesarean delivery did not cause excessive bleeding and resulted in healthy newborns. This approach offers the advantage of avoiding additional surgeries under anesthesia and can be considered a viable option. Subsequent pregnancies after myomectomy were considered high-risk.


Assuntos
Leiomioma , Mioma , Miomectomia Uterina , Neoplasias Uterinas , Feminino , Humanos , Recém-Nascido , Gravidez , Cesárea , Leiomioma/cirurgia , Leiomioma/patologia , Prognóstico , Estudos Retrospectivos , Miomectomia Uterina/métodos , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/patologia , Complicações Neoplásicas na Gravidez/patologia , Complicações Neoplásicas na Gravidez/cirurgia
11.
Diagn Pathol ; 19(1): 2, 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38172926

RESUMO

BACKGROUND: Benign metastasizing leiomyoma (BML) is a rare disease with an unknown etiopathogenesis that mostly affects middle-aged women with uterine leiomyoma. Many metastatic nodules outside the uterus characterize the condition. The metastases are smooth muscle lesions without malignancy. Morphologically and immunohistochemically, they resemble uterine leiomyomas, indicating a shared clonal origin. The lungs are the most prevalent site for incidental metastasis detection. BML has a relatively slow progression and good prognosis, and historically, there has been a lack of established guidelines for its treatment. CASE PRESENTATION: Herein, we report a case of BML in a patient with multiple metastases. Through extensive histological and immunohistochemical analyses, this complex case enabled not only the definitive diagnosis of BML, but also shed light on its complex etiopathogenesis. CONCLUSION: This study presents novel histology evidence suggesting a potential causal relationship between metaplasia and the development of BML.


Assuntos
Leiomioma , Neoplasias Pulmonares , Neoplasias Uterinas , Pessoa de Meia-Idade , Feminino , Humanos , Neoplasias Uterinas/patologia , Doenças Raras , Neoplasias Pulmonares/patologia , Leiomioma/patologia
12.
Asian Cardiovasc Thorac Ann ; 32(1): 40-42, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37876213

RESUMO

Leiomyoma is the most common benign tumor of the esophagus. Open thoracotomy, the traditional approach adopted for the enucleation of the esophageal leiomyoma, over the years, has been gradually replaced by video-assisted thoracoscopic surgery. However, this minimally invasive approach has limitations, such as two-dimensional vision and reduced range of motion, which have recently been overcome by technical advantages of robot-assisted surgery. In the surgical management of circumferential esophageal leiomyoma, a combined use of robotic surgery and intraoperative endoscopy may be helpful to facilitate tumor enucleation and to prevent esophageal mucosal injury during the surgical procedure.


Assuntos
Neoplasias Esofágicas , Leiomioma , Procedimentos Cirúrgicos Robóticos , Humanos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Neoplasias Esofágicas/diagnóstico por imagem , Neoplasias Esofágicas/cirurgia , Neoplasias Esofágicas/patologia , Cirurgia Torácica Vídeoassistida/efeitos adversos , Cirurgia Torácica Vídeoassistida/métodos , Leiomioma/diagnóstico por imagem , Leiomioma/cirurgia , Leiomioma/patologia , Toracoscopia
13.
Cytokine Growth Factor Rev ; 75: 93-100, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37839993

RESUMO

Uterine fibroids (UF), also called uterine leiomyoma, is one of the most prevalent uterine tumors. UF represents a serious women's health global problem with a significant physical, emotional, and socioeconomic impact. Risk factors for UF include racial disparities, age, race, hormonal factors, obesity, and lifestyle (diet, physical activity, and stress. There are several biological contributors to UF pathogenesis such as cellular proliferation, angiogenesis, and extracellular matrix (ECM) accumulation. This review addresses tumor immune microenvironment as a novel mediator of ECM deposition. Polarization of immune microenvironment towards the immunosuppressive phenotype has been associated with ECM deposition. Immunosuppressive cells include M2 macrophage, myeloid-derived suppressor cells (MDSCs), and Th17 cells, and their secretomes include interleukin 4 (IL-4), IL-10, IL-13, IL-17, IL-22, arginase 1, and transforming growth factor-beta (TGF-ß1). The change in the immune microenvironment not only increase tumor growth but also aids in collagen synthesis and ECM disposition, which is one of the main hallmarks of UF pathogenesis. This review invites further investigations on the change in the UF immune microenvironment as well as a novel targeting approach instead of the traditional UF hormonal and supportive treatment.


Assuntos
Leiomioma , Neoplasias Uterinas , Feminino , Humanos , Microambiente Tumoral , Leiomioma/patologia , Leiomioma/terapia , Neoplasias Uterinas/patologia , Neoplasias Uterinas/terapia , Matriz Extracelular , Colágeno
14.
Arch Gynecol Obstet ; 309(4): 1551-1560, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38055011

RESUMO

PURPOSE: To evaluate the magnetic resonance imaging (MRI) features that may help distinguish leiomyosarcomas from atypical leiomyomas (those presenting hyperintensity on T2-W images equal or superior to 50% compared to the myometrium). MATERIALS AND METHODS: The authors conducted a retrospective single-centre study that included a total of 57 women diagnosed with smooth muscle tumour of the uterus, who were evaluated with pelvic MRI, between January 2009 and March 2020. All cases had a histologically proven diagnosis (31 Atypical Leiomyomas-ALM; 26 Leiomyosarcomas-LMS). The MRI features evaluated in this study included: age at presentation, dimension, contours, intra-tumoral haemorrhagic areas, T2-WI heterogeneity, T2-WI dark areas, flow voids, cyst areas, necrosis, restriction on diffusion-weighted imaging (DWI), apparent diffusion coefficient (ADC) values, signal intensity and heterogeneity after contrast administration in T1-WI, presence and location of unenhanced areas. The association between the MRI characteristics and the histological subtype was evaluated using Chi-Square and ANOVA tests. RESULTS: The MRI parameters that showed a statistically significance correlation with malignant histology and thus most strongly associated with LMS were found to be: irregular contours (p < 0.001), intra-tumoral haemorrhagic areas (p = 0.028), T2-WI dark areas (p = 0.016), high signal intensity after contrast administration (p = 0.005), necrosis (p = 0.001), central location for unenhanced areas (p = 0.026), and ADC value lower than 0.88 × 10-3 mm2/s (p = 0.002). CONCLUSION: With our work, we demonstrate the presence of seven MRI features that are statistically significant in differentiating between LMS and ALM.


Assuntos
Leiomioma , Leiomiossarcoma , Tumor de Músculo Liso , Neoplasias Uterinas , Feminino , Humanos , Leiomiossarcoma/diagnóstico por imagem , Leiomiossarcoma/patologia , Tumor de Músculo Liso/diagnóstico por imagem , Tumor de Músculo Liso/patologia , Neoplasias Uterinas/patologia , Estudos Retrospectivos , Portugal , Imageamento por Ressonância Magnética/métodos , Leiomioma/patologia , Imagem de Difusão por Ressonância Magnética , Miométrio/patologia , Diagnóstico Diferencial , Necrose
15.
Eur J Radiol ; 170: 111217, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38042020

RESUMO

PURPOSE: To assess the diagnostic performance of MRI in distinguishing between leiomyomas and malignant/potentially malignant mesenchymal neoplasms in patients with rapidly enlarging/sonographically suspicious uterine masses. METHODS: IRB-approved retrospective study including 88 patients (51 ± 11 years) who underwent MRI for rapidly enlarging/sonographically suspicious uterine mass at our Institution between January 2016 and December 2021, followed by surgery or >12 months follow-up. Qualitative image analysis was independently performed by 2 radiologists and included lesion's margins (sharp/irregular), architecture (homogeneous/inhomogeneous), presence of endometrial infiltration (yes/no), necrotic areas (yes/no), hemorrhagic areas (yes/no), predominant signal intensity on T1-WI, T2-WI, CE T1-WI, DWI, and ADC map. The same radiologists performed quantitative image analysis in consensus, which included lesion's maximum diameter, lesion/myometrium signal intensity ratio on T2-WI and CE T1-weighted images, lesion/endometrium signal intensity ratio on DWI and ADC map and necrosis percentage. Lesions were classified as benign or malignant. Imaging findings were compared with pathology and/or follow-up. RESULTS: After surgery (52/88 patients) or follow-up (36/88 patients, 33 ± 20 months), 83/88 (94.3%) lesions were classified as benign and 5/88 (5.7%) as malignant/potentially malignant. Presence of necrotic areas, high necrosis percentage, hyperintensity on DWI and high lesion/endometrium DWI signal intensity ratio were significantly associated with malignant/potentially malignant lesions (p = 0.027, 0.002, 0.008 and 0.015, respectively). The two readers identified malignant/potentially malignant lesions with 95.5% accuracy, 80.0% sensitivity, 96.4% specificity, 57.1 % PPV, 93.3% NPV. CONCLUSION: MRI has high accuracy in identifying malignant/potentially malignant myometrial masses. In everyday practice, however, MRI positive predictive value is relatively low given the low pre-test malignancy probability.


Assuntos
Leiomioma , Sarcoma , Neoplasias Uterinas , Feminino , Humanos , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/patologia , Estudos Retrospectivos , Diagnóstico Diferencial , Sensibilidade e Especificidade , Leiomioma/diagnóstico por imagem , Leiomioma/patologia , Imageamento por Ressonância Magnética/métodos , Necrose , Imagem de Difusão por Ressonância Magnética/métodos
16.
Reprod Sci ; 31(2): 291-308, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37516697

RESUMO

Uterine leiomyomas are the most common tumor of reproductive-age women worldwide. Although benign, uterine fibroids cause significant morbidity and adversely impact the quality of life for affected women. Somatic mutations in the exon 2 of the mediator complex subunit 12 (MED-12) gene represent the most common single gene mutation associated with uterine leiomyomas. The objective of this review was to evaluate the current role of MED-12 mutation in the pathophysiology of uterine fibroids, to assess the prevalence of MED-12 mutation among different populations, and to identify the most common subtypes of MED-12 mutations found in uterine fibroids. A comprehensive search was conducted using Pubmed, Embase, Scopus, and the Web of Science. English-language publications that evaluated MED-12 mutation and uterine fibroids in humans, whether experimental or clinical, were considered. We identified 380 studies, of which 23 were included, comprising 1353 patients and 1872 fibroid tumors. Of the total number of tumors analyzed, 1045 (55.8%) harbored a MED-12 mutation. Among the 23 studies included, the frequency of MED-12 mutation varied from 31.1 to 80% in fibroid samples. The most common type of MED-12 mutation was a heterozygous missense mutation affecting codon 44 of exon 2, specifically the nucleotide 131. Studies reported that MED-12 mutation acts by increasing levels of AKT and disrupting the cyclin C-CDK8/19 kinase activity. The overall average prevalence of MED-12 mutation in uterine fibroids was found to be 55.8% across the global population, though the frequency varied greatly among different countries.


Assuntos
Leiomioma , Neoplasias Uterinas , Humanos , Feminino , Neoplasias Uterinas/genética , Qualidade de Vida , Complexo Mediador/genética , Leiomioma/genética , Leiomioma/patologia , Mutação
17.
J Minim Invasive Gynecol ; 31(1): 28-36.e1, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37778636

RESUMO

BACKGROUND: Differential diagnosis between uterine leiomyomas and sarcomas is challenging. Ultrasound shows an uncertain role in the clinical practice given that pooled estimates about its diagnostic accuracy are lacking. OBJECTIVES: To assess the accuracy of ultrasound in the differential diagnosis between uterine leiomyomas and sarcomas. DATA SOURCES: A systematic review was performed searching 5 electronic databases (MEDLINE, Web of Sciences, Google Scholar, Scopus, and ClinicalTrial.gov) from their inception to June 2023. METHODS OF STUDY SELECTION: All peer-reviewed observational or randomized clinical trials that reported an unbiased postoperative histologic diagnosis of uterine leiomyoma or uterine sarcoma that also comprised a preoperative ultrasonographic evaluation of the uterine mass. TABULATION, INTEGRATION, AND RESULTS: Sensitivity, specificity, positive and negative likelihood ratios, diagnostic odds ratio, and area under the curve on summary receiver operating characteristic were calculated for each included study and as pooled estimate, with 95% confidence interval (CI); 972 women (694 with uterine leiomyomas and 278 with uterine sarcomas) were included. Ultrasound showed pooled sensitivity of 0.76 (95% CI, 0.70-0.81), specificity of 0.89 (95% CI, 0.87-0.92), positive and negative likelihood ratios of 6.65 (95% CI, 4.45-9.93) and 0.26 (95% CI, 0.07-1.0) respectively, diagnostic odds ratio of 23.06 (95% CI, 4.56-116.53), and area under the curve of 0.8925. CONCLUSIONS: Ultrasound seems to have only a moderate diagnostic accuracy in the differential diagnosis between uterine leiomyomas and sarcomas, with a lower sensitivity than specificity.


Assuntos
Leiomioma , Sarcoma , Neoplasias Uterinas , Feminino , Humanos , Sensibilidade e Especificidade , Leiomioma/diagnóstico por imagem , Leiomioma/patologia , Sarcoma/diagnóstico por imagem , Neoplasias Uterinas/cirurgia , Ultrassonografia
18.
Arch Argent Pediatr ; 122(2): e202310146, 2024 04 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37824330

RESUMO

Smooth muscle tumors that cannot be histologically classified as leiomyomas or leiomyosarcomas are defined as smooth muscle tumors of uncertain malignant potential. The location of these tumors in the nose is very rare, and the appropriate surgical extent to manage these neoplasms has not been adequately defined. Here we describe the case of a 16-year-old female adolescent who consulted due to a vascular-like tumor in the right nasal cavity who was successfully treated with intranasal surgery. The histological diagnosis was smooth muscle tumor of uncertain malignant potential. Given that these neoplasms are rare, the uncommon location in the nose, and the lack of evidence indicating the extent of surgery, it is relevant to describe and discuss this clinical case.


Los tumores de músculo liso que no pueden ser clasificados según su histología como leiomiomas o leiomiosarcomas se denominan tumores de músculo liso de comportamiento maligno incierto. La localización nasal de estos tumores es muy infrecuente y la extensión adecuada de la cirugía para tratar estas neoplasias no está bien definida. Se describe el caso clínico de una adolescente de 16 años, que consultó por padecer un tumor de aspecto vascular en la cavidad nasal derecha y que fue tratada con éxito mediante cirugía intranasal. El diagnóstico histológico fue tumor de músculo liso de comportamiento maligno incierto. Por la rareza de estas neoplasias, su infrecuente localización nasal y la falta de evidencia que soporte cuál debe ser la extensión de la cirugía, es relevante la descripción y discusión del caso clínico.


Assuntos
Leiomioma , Leiomiossarcoma , Tumor de Músculo Liso , Humanos , Feminino , Adolescente , Tumor de Músculo Liso/diagnóstico , Tumor de Músculo Liso/cirurgia , Tumor de Músculo Liso/patologia , Leiomioma/patologia , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/patologia
19.
Int J Gynecol Pathol ; 43(2): 176-181, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37562064

RESUMO

Leiomyomas are common hormone-responsive uterine neoplasms which can exhibit a variety of morphologic changes secondary to hormonal agents such as progestogens. They may increase in size during pregnancy as a result of hormonal stimulation but surprisingly the morphologic features of leiomyomas in pregnancy are not well described in the literature. In this report, we describe the morphologic features of a series of 29 uterine leiomyomas in pregnancy. The features include in decreasing order of frequency infarct-type necrosis, decidualization of the serosal surface, hyalinization, myxoid alteration of the stroma, edema (sometimes with cyst formation), and dystrophic calcification. We also report a feature which we term "deciduoid" change (seen in 10 of 29 leiomyomas) which takes the form of altered smooth muscle cells with an epithelioid morphology with abundant eosinophilic or clear cytoplasm. Furthermore, we show that the "deciduoid" cells commonly exhibit expression of sex cord markers inhibin and calretinin. We speculate on the pathogenesis of the "deciduoid" change which together with its "aberrant" immunophenotype may result in diagnostic problems and consideration of other neoplasms.


Assuntos
Leiomioma , Neoplasias Uterinas , Feminino , Gravidez , Humanos , Calbindina 2 , Leiomioma/diagnóstico , Leiomioma/patologia , Neoplasias Uterinas/patologia , Necrose , Imunofenotipagem
20.
Invest Radiol ; 59(1): 78-91, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37493356

RESUMO

ABSTRACT: Diffusion-weighted imaging (DWI) is an increasingly valuable sequence in daily clinical practice, providing both functional and morphological information. The use of DWI can help quantify diffusion using the apparent diffusion coefficient, which reflects the physiological features of the tissue and tumor microcirculation. This knowledge is crucial for understanding and interpreting gynecological imaging. This article reviews the clinical utility of DWI for gynecological imaging, highlighting its ability to aid in the detection of endometrial and cervical cancers, as well as tumor extension and metastasis. In addition, DWI can easily detect the solid components of ovarian cancer (including dissemination), assist in the diagnosis of adnexal torsion, and potentially show bone marrow status. Apparent diffusion coefficient measurement is useful for differentiating between endometrial lesions, uterine leiomyomas, and sarcomas, and may provide important information for predicting the prognosis of gynecological cancers.


Assuntos
Imagem de Difusão por Ressonância Magnética , Leiomioma , Humanos , Imagem de Difusão por Ressonância Magnética/métodos , Leiomioma/patologia
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