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1.
Ceska Gynekol ; 89(2): 144-150, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38704228

RESUMO

AIM: A review of diagnostic options and standardized methods for specifying clinical symptoms associated with uterine myomatosis. METHODS: A literature search of databases aimed at finding validated metrics for assessing myomas symptomatology. RESULTS: Summary of obligatory and optional examination methods in the diagnosis of uterine fibroids and methods of examination of reproductive parameters of the couple in relation to myomatosis. Defining the metrics of bleeding manifestations of myomatosis with emphasis on the "Pictorial Bleeding Assessment Chart". Reviewing metrics of algic manifestations of myomatosis and quality of life with emphasis on the "Quality of Life Questionnaire - Myomatosis - Severity Symptom Scale". CONCLUSION: The purpose of the applicable metrics, which summarize objective findings and subjective complaints of patients, is to describe and evaluate possible correlations and dynamics of changes in the health status, depending on the chosen therapy.


Assuntos
Leiomioma , Qualidade de Vida , Neoplasias Uterinas , Humanos , Feminino , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/complicações , Leiomioma/diagnóstico , Leiomioma/complicações
2.
J Med Case Rep ; 18(1): 222, 2024 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-38704583

RESUMO

BACKGROUND: The greater omentum comprises peritoneal, adipose, vascular, and lymphoid tissues. Most omental malignancies are metastatic tumors, and the incidence of primary tumors is rare. We report on a prior omental smooth muscle tumor case in an adult male patient. CASE PRESENTATION: A 54-year-old Japanese male patient with no relevant medical history was diagnosed with an abdominal mass during a routine medical checkup. Subsequent contrast-enhanced computed tomography revealed a mass of approximately 3 cm in size in the greater omentum, and a laparotomy was performed. A 27 × 25 × 20 mm raised lesion was found in the omentum. Microscopically, spindle cells were observed and arranged in whorls and fascicles. Individual tumor cells had short spindle-shaped nuclei with slightly increased chromatin and were characterized by a slightly eosinophilic, spindle-shaped cytoplasm. The mitotic count was less than 1 per 50 high-power fields. The tumor cells showed positive immunoreactivity for α smooth muscle actin, HHF35, and desmin on immunohistochemical examination. The Ki-67 labeling index using the average method was 1.76% (261/14806). No immunoreactivity was observed for any of the other tested markers. We considered leiomyoma owing to a lack of malignant findings. However, primary omental leiomyoma has rarely been reported, and it can be difficult to completely rule out the malignant potential of smooth muscle tumors in soft tissues. Our patient was decisively diagnosed with a primary omental smooth muscle tumor considering leiomyoma. Consequently, the patient did not undergo additional adjuvant therapy and was followed up. The patient was satisfied with treatment and showed neither recurrence nor metastasis at the 13-month postoperative follow-up. DISCUSSION AND CONCLUSION: We encountered a primary smooth muscle tumor of the greater omentum with no histological findings suggestive of malignancy in an adult male patient. However, omental smooth muscle tumors are extremely difficult to define as benign, requiring careful diagnosis. Further case reports with long-term follow-up and case series are required to determine whether a true omental benign smooth muscle tumor (leiomyoma) exists. In addition, proper interpretation of the Ki-67 labeling index should be established. This case study is a foundation for future research.


Assuntos
Leiomioma , Omento , Neoplasias Peritoneais , Tumor de Músculo Liso , Tomografia Computadorizada por Raios X , Humanos , Masculino , Omento/patologia , Pessoa de Meia-Idade , Leiomioma/patologia , Leiomioma/cirurgia , Leiomioma/diagnóstico por imagem , Leiomioma/diagnóstico , Tumor de Músculo Liso/patologia , Tumor de Músculo Liso/diagnóstico , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/cirurgia , Neoplasias Peritoneais/secundário , Diagnóstico Diferencial
4.
Cancer Prev Res (Phila) ; 17(5): 201-208, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38638033

RESUMO

Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata and have an increased risk of developing aggressive renal cell carcinomas. Many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed during a myomectomy or hysterectomy, making a streamlined genetic counseling process after a pathology-based atypical uterine leiomyoma diagnosis critical. However, the prevalence of germline pathogenic/likely PVs in FH among atypical uterine leiomyomata cases is unknown. To better understand FH germline PV prevalence and current patterns of genetic counseling and germline genetic testing, we undertook a retrospective review of atypical uterine leiomyomata cases at a single large center. We compared clinical characteristics between the FH PV, FH wild-type (WT), and unknown genetic testing cohorts. Of the 144 cases with atypical uterine leiomyomata with evaluable clinical data, only 49 (34%) had documented genetic test results, and 12 (8.3%) had a germline FH PV. There were 48 IHC-defined FH-deficient cases, of which 41 (85%) had FH testing and nine had a germline FH PV, representing 22% of the tested cohort and 18.8% of the FH-deficient cohort. Germline FH PVs were present in 8.3% of evaluable patients, representing 24.5% of the cohort that completed genetic testing. These data highlight the disconnect between pathology and genetic counseling, and help to refine risk estimates that can be used when counseling patients with atypical uterine leiomyomata. PREVENTION RELEVANCE: Women diagnosed with fumarate hydratase (FH)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of FH-deficient uterine leiomyomata in the absence of germline FH pathogenic/likely pathogenic variants is needed.


Assuntos
Fumarato Hidratase , Testes Genéticos , Mutação em Linhagem Germinativa , Leiomioma , Neoplasias Uterinas , Humanos , Feminino , Fumarato Hidratase/genética , Fumarato Hidratase/deficiência , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Neoplasias Uterinas/diagnóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto , Leiomioma/genética , Leiomioma/patologia , Leiomioma/diagnóstico , Predisposição Genética para Doença , Aconselhamento Genético , Leiomiomatose/genética , Leiomiomatose/patologia , Leiomiomatose/diagnóstico
5.
JAMA Netw Open ; 7(4): e246832, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38625699

RESUMO

Importance: Fibroids are benign neoplasms associated with severe gynecologic morbidity. There are no strategies to prevent fibroid development. Objective: To examine associations of hypertension, antihypertensive treatment, anthropometry, and blood biomarkers with incidence of reported fibroid diagnosis in midlife. Design, Setting, and Participants: The Study of Women's Health Across the Nation is a prospective, multisite cohort study in the US. Participants were followed-up from enrollment (1996-1997) through 13 semiannual visits (1998-2013). Participants had a menstrual period in the last 3 months, were not pregnant or lactating, were aged 42 to 52 years, were not using hormones, and had a uterus and at least 1 ovary. Participants with prior fibroid diagnoses were excluded. Data analysis was performed from November 2022 to February 2024. Exposures: Blood pressure, anthropometry, biomarkers (cholesterol, triglycerides, and C-reactive protein), and self-reported antihypertensive treatment at baseline and follow-up visits were measured. Hypertension status (new-onset, preexisting, or never [reference]) and hypertension treatment (untreated, treated, or no hypertension [reference]) were categorized. Main Outcomes and Measures: Participants reported fibroid diagnosis at each visit. Discrete-time survival models estimated hazard ratios (HRs) and 95% CIs for associations of time-varying hypertension status, antihypertensive treatment, anthropometry, and biomarkers with incident reported fibroid diagnoses. Results: Among 2570 participants without a history of diagnosed fibroids (median [IQR] age at screening, 45 [43-48] years; 1079 [42.1%] college educated), 526 (20%) reported a new fibroid diagnosis during follow-up. Risk varied by category of hypertension treatment: compared with those with no hypertension, participants with untreated hypertension had a 19% greater risk of newly diagnosed fibroids (HR, 1.19; 95% CI, 0.91-1.57), whereas those with treated hypertension had a 20% lower risk (HR, 0.80; 95% CI, 0.56-1.15). Among eligible participants with hypertension, those taking antihypertensive treatment had a 37% lower risk of newly diagnosed fibroids (HR, 0.63; 95% CI, 0.38-1.05). Risk also varied by hypertension status: compared with never-hypertensive participants, participants with new-onset hypertension had 45% greater risk of newly diagnosed fibroids (HR, 1.45; 95% CI, 0.96-2.20). Anthropometric factors and blood biomarkers were not associated with fibroid risk. Conclusions and Relevance: Participants with untreated and new-onset hypertension had increased risk of newly diagnosed fibroids, whereas those taking antihypertensive treatment had lower risk, suggesting that blood pressure control may provide new strategies for fibroid prevention.


Assuntos
Doenças Cardiovasculares , Hipertensão , Leiomioma , Feminino , Humanos , Gravidez , Anti-Hipertensivos , Estudos de Coortes , Lactação , Estudos Prospectivos , Fatores de Risco , Hipertensão/complicações , Hipertensão/tratamento farmacológico , Hipertensão/epidemiologia , Leiomioma/complicações , Leiomioma/diagnóstico , Leiomioma/epidemiologia , Fatores de Risco de Doenças Cardíacas , Biomarcadores
6.
BMJ Case Rep ; 17(3)2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38442969

RESUMO

Leiomyomas of the uterus are the most common benign tumours of women in the reproductive age group, affecting up to 40%-50% of women older than 35. In postmenopausal women, the incidence is much lower with an estimated incidence of 1%-2% in women in the 60-80 years old age group. Vulvar leiomyomas are much rarer than their uterine counterparts, accounting for only 0.03% of all gynaecological neoplasms and 0.07% of all vulvar tumours. These tumours are well-circumscribed, painless, solitary growths that affect females of all ages. Given the presentation and rarity of vulvar leiomyomas, they are often misdiagnosed as a Bartholin gland cyst, abscess or even cancer preoperatively. We present a case of a woman in her 70s with a 1.5 cm firm mass that was palpated on the left lower vaginal side wall and was initially suspected to be a Bartholin gland cyst or abscess. Initial treatment included antibiotics and an incision and drainage. Two weeks later, the mass had grown to 3 cm in size. Wide excisional biopsy revealed the mass to be a vulvar leiomyoma.


Assuntos
Cistos , Leiomioma , Neoplasias Vulvares , Idoso , Feminino , Humanos , Abscesso/diagnóstico , Abscesso/cirurgia , Cistos/diagnóstico , Cistos/cirurgia , Leiomioma/diagnóstico , Leiomioma/cirurgia , Pós-Menopausa , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/cirurgia
7.
BMJ Case Rep ; 17(3)2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38508605

RESUMO

Myomatous erythrocytosis syndrome (MES) is a rare form of secondary erythrocytosis seen with myomas. Here, we present a case of a postmenopausal, nulliparous woman in her 50s incidentally found to have asymptomatic erythrocytosis on routine laboratory work. She was found to have an 18.5 cm myoma and after surgical resection, the patient's haematological values returned to normal ranges after a few weeks. This established the diagnosis as MES. The aetiology of MES continues to remain unknown but is most likely caused by an autonomous production of erythropoietin from the myomatous tissue. This case highlights obtaining a detailed history and physical examination to differentiate between the different causes of erythrocytosis, considering MES as a rare cause of secondary erythrocytosis and to prevent unnecessary procedures such as phlebotomy as surgery is the mainstay of treatment.


Assuntos
Leiomioma , Mioma , Policitemia , Neoplasias Uterinas , Feminino , Humanos , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirurgia , Policitemia/complicações , Policitemia/diagnóstico , Leiomioma/complicações , Leiomioma/diagnóstico , Leiomioma/cirurgia , Síndrome
8.
J Med Case Rep ; 18(1): 173, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38515215

RESUMO

BACKGROUND: Bladder leiomyomas are rare benign growths in the bladder, comprising less than 0.5% of bladder tumors with only 250 cases reported globally. They are more common in women. This case involves a 70-year-old woman with recurrent leiomyoma, presenting with lower urinary tract symptoms and painless hematuria. A recurrent bladder leiomyoma is rarely reported, making its presence exceptionally rare. CASE PRESENTATION: A 70-year-old Pakistani woman with hypertension and diabetes presented with lower urinary tract symptoms (LUTS) and painless hematuria. She had a history of similar symptoms in 2010, leading to a diagnosis of bladder leiomyoma via cystoscopy and biopsy. Imaging studies revealed a substantial 3.7 × 4 × 4.0 cm isodense mass with calcifications at the bladder base, along with bladder wall thickening and diverticula. Pathological examination during Transurethral Resection of Bladder Tumor (TURBT) confirmed the presence of bladder tissue with smooth muscle, ruling out malignancy. Immunohistochemical studies supported the diagnosis. A successful TURBT was performed, and the patient recovered well. DISCUSSION: Recurrent bladder leiomyoma is a rarely-discussed topic in medical literature. This article primarily aims to review existing studies and present a detailed case study, shedding light on this rare phenomenon.


Assuntos
Neoplasias Renais , Leiomioma , Sintomas do Trato Urinário Inferior , Neoplasias da Bexiga Urinária , Humanos , Feminino , Idoso , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/cirurgia , Bexiga Urinária/patologia , Hematúria , Leiomioma/diagnóstico , Leiomioma/diagnóstico por imagem , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/diagnóstico por imagem , Neoplasias Renais/patologia
9.
BMJ Case Rep ; 17(3)2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38514162

RESUMO

Representing 0.43% of all urinary bladder neoplasms, leiomyomas are rare mesenchymal tumours with a benign pathophysiology. There have only been approximately 250 cases published on this subject, necessitating further inquiry into this disease and effective management protocols. Treatment options may include a broad spectrum of surgical interventions, from minimally invasive resection to radical cystectomy, depending on the location, size and symptoms associated with the tumour. To date, few cases of leiomyoma have resulted in recurrence after removal, and zero have reported malignant transformation. Described here in detail is a woman in her early 40s who presented with a history of chronic pelvic pain and irregular vaginal bleeding. The urology team completed further evaluation after imaging discovered a concerning bladder lesion. Eventually, she underwent transurethral resection, with the subsequent pathology revealing a rare diagnosis of leiomyoma in the urinary bladder.


Assuntos
Dor Crônica , Leiomioma , Neoplasias da Bexiga Urinária , Feminino , Humanos , Bexiga Urinária/patologia , Dismenorreia , Leiomioma/complicações , Leiomioma/cirurgia , Leiomioma/diagnóstico , Neoplasias da Bexiga Urinária/complicações , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/cirurgia , Cistectomia , Dor Pélvica/etiologia , Dor Pélvica/cirurgia , Dor Crônica/etiologia , Dor Crônica/cirurgia
10.
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
11.
Stomatologiia (Mosk) ; 103(1): 55-58, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38372608

RESUMO

The article describes a clinical case of a benign tumor from smooth muscle cells - piloleiomyoma. The incidence of leiomyoma in the skin is 3-5% of all leiomyomas. A 27-year-old patient applied to a medical institution with complaints about an intradermal formation in the ear region that occurred repeatedly within 5 months after surgical treatment. After the first surgical intervention, the patient was consulted in various medical organizations, where the following diagnoses were made: «nodular fasciitis¼, «smooth muscle tumor without signs of malignancy¼ and «non-epithelial spindle cell neoplasm¼. According to ultrasound examination, the formation with dimensions of 11×9×5 mm reached the mastoid process of the temporal bone and was characterized by increased internal blood flow. After surgical removal of the neoplasm, taking into account the difficulties of differential diagnosis, an immunohistochemical study was conducted. An accumulation of smooth muscle cells was detected in the surface layers of the dermis under the epidermis by the immunohistochemical study with the use of the marker SMA. A study on CD34 protein revealed a high density of blood capillaries and the absence of its expression in smooth muscle cells. The proliferative index (Ki-67) and mitotic activity (PHH-3) of cells was also studied. The index of proliferative activity was less than 2%, mitoses were isolated. Thus, the results of immunohistochemical study proved the conclusion of piloleiomyoma.


Assuntos
Fasciite , Leiomioma , Neoplasias Cutâneas , Humanos , Adulto , Leiomioma/diagnóstico , Leiomioma/cirurgia , Leiomioma/química , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia , Fasciite/metabolismo , Fasciite/patologia , Fasciite/cirurgia
12.
Hinyokika Kiyo ; 70(1): 7-11, 2024 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-38321743

RESUMO

A 49-year-old female was incidentally found to have a left renal tumor during a medical check-up. The tumor was too small to be fully diagnosed using computed tomography (CT) or magnetic resonance imaging (MRI). Since it was small and showed a homogenous enhancement pattern on contrast-enhanced CT, which made it difficult for us to distinguish the malignancy of the tumor, we performed regular CT follow-up. On the fifth year of her regular follow-up, the tumor had grown apparently larger and showed a heterogenous enhancement pattern, which suggested a malignant tumor. Since the tumor was exophytic, we decided to perform a laparoscopic partial nephrectomy. The operation was performed without any serious complications, and her renal function remained unchanged. The histopathology of the tumor was leiomyoma. Here, we discuss the characteristics of this tumor and the role of immunohistopathology in the diagnosis.


Assuntos
Neoplasias Renais , Laparoscopia , Leiomioma , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Renais/cirurgia , Rim , Nefrectomia , Leiomioma/diagnóstico , Leiomioma/cirurgia
13.
Obstet Gynecol ; 143(3): 456-458, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38207338

RESUMO

Uterine leiomyomas may affect the performance of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT). We conducted a retrospective cohort study of pregnant individuals with and without leiomyomas undergoing first-trimester cfDNA-based NIPT. Characteristics of NIPT in patients with leiomyomas (n=122) were compared with those in patients without leiomyomas (n=937). Mean fetal fraction was lower in patients with leiomyomas compared with patients without (10.0% vs 11.5%; P =.001); however, the rate of indeterminate results was different only in patients without obesity (body mass index [BMI] lower than 30) (5.3% vs 1.5%; P =0.03). Total cfDNA concentration was higher in patients with leiomyomas ( P =.002), suggesting possible dilution of the fetal fraction. Leiomyoma size did not affect NIPT metrics. In conclusion, uterine leiomyomas are associated with lower fetal fraction and, in patients without obesity, with a higher rate of indeterminate results independent of leiomyoma size.


Assuntos
Ácidos Nucleicos Livres , Leiomioma , Teste Pré-Natal não Invasivo , Gravidez , Feminino , Humanos , Primeiro Trimestre da Gravidez , Estudos Retrospectivos , Leiomioma/diagnóstico , Obesidade , Diagnóstico Pré-Natal/métodos
14.
BMC Cancer ; 24(1): 12, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38166889

RESUMO

BACKGROUND: This systematic review and meta-analysis aimed to determine the potential value of neutrophil to lymphocyte ratio (NLR) as an assessment tool in the clinical distinction between uterine sarcoma and uterine leiomyoma. METHODS: We comprehensively searched Web of Science, Scopus, and PubMed for relevant papers published before March 19, 2023. The standardized mean difference (SMD) was provided, along with a 95% confidence interval (CI). The random-effects model was employed to derive pooled effects due to the high levels of heterogeneity. The Newcastle-Ottawa scale was used for the quality assessment. Our study was registered in PROSPERO (CRD42023478331). RESULTS: Overall, seven articles were included in the analysis. A random-effect model revealed that patients with uterine sarcoma had higher NLR levels compared to those with uterine myoma (SMD = 0.60, 95% CI = 0.22-0.98; p = 0.002). In the subgroup analysis according to sample size, we found that patients with uterine sarcoma had elevated levels of NLR compared to those with uterine myoma in either large studies (SMD = 0.58, 95% CI = 0.04-1.13; P < 0.001) or small studies (SMD = 0.64, 95% CI = 0.33-0.96; P = 0.32). In the sensitivity analysis, we found that the final result was not significantly changed when single studies were removed, suggesting that the finding of this meta-analysis was stable. The pooled sensitivity of NLR was 0.68 (95% CI = 0.61-0.73), and the pooled specificity was 0.64 (95% CI = 0.59-0.69). CONCLUSION: NLR might be utilized as an assessment tool in clinics to help clinicians differentiate between patients with uterine sarcoma and those with myoma.


Assuntos
Leiomioma , Mioma , Neoplasias Pélvicas , Sarcoma , Neoplasias de Tecidos Moles , Neoplasias Uterinas , Feminino , Humanos , Neutrófilos , Linfócitos , Sarcoma/diagnóstico , Neoplasias Uterinas/diagnóstico , Leiomioma/diagnóstico
15.
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
16.
Georgian Med News ; (343): 119-126, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38096528

RESUMO

Benign uterine leiomyoma (U.LMA) and malignant uterine leiomyosarcoma (U.LMS), both uterine mesenchymal tumors, are distinguished by the number of cells exhibiting mitotic activity. However, uterine mesenchymal tumors contain tumor cells with various cell morphologies; therefore, making a diagnosis, including differentiating between benign and malignant tumors, is difficult. For example, cotyledonoid dissecting leiomyoma (CDL) or uterine smooth muscle tumors of uncertain malignant potential (STUMPs) are a group of uterine mesenchymal tumors for which a differential diagnosis is challenging. To date, a standardized classification system for uterine mesenchymal tumors has not yet been established. Furthermore, definitive preoperative imaging techniques or hematological examinations for the potential inclusion of CDL or STUMP in the differential diagnosis have not been defined. Several clinical studies have reported that there is no correlation between biomarker expression and mitotic rate or tumor recurrence. The immunohistochemical biomarkers reported so far cannot effectively help determine the malignant potential of CDL or STUMPs in patients who wish to become pregnant in the future. The establishment of gene expression profiles or detection of pathogenic variants by using next-generation molecular techniques can facilitate disease prediction, diagnosis, treatment, and prognosis. We examined the oncological properties of STUMP in adults using molecular pathological techniques on tissue excised from patients with uterine mesenchymal tumor. In a clinical study conducted by our medical team, the results of gene expression profiling indicated factors that may be associated with malignancy of uterine mesenchymal tumors. We herein describe the problems in diagnosing uterine mesenchymal tumors along with the results of the latest clinical studies. It is expected that the establishment of a diagnostic method targeting the characteristics of mesenchymal tumor cells will lead to the treatment of malignant tumors with a low risk of recurrence and metastasis.


Assuntos
Leiomioma , Leiomiossarcoma , Tumor de Músculo Liso , Neoplasias Uterinas , Adulto , Feminino , Humanos , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/metabolismo , Leiomiossarcoma/patologia , Prognóstico , Imuno-Histoquímica , Recidiva Local de Neoplasia/diagnóstico , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Leiomioma/diagnóstico , Biomarcadores Tumorais , Tumor de Músculo Liso/diagnóstico , Tumor de Músculo Liso/metabolismo , Tumor de Músculo Liso/patologia
17.
BMC Cancer ; 23(1): 1215, 2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38066476

RESUMO

BACKGROUND: The objective of this study was to estimate the accuracy of transcriptome-based classifier in differential diagnosis of uterine leiomyoma and leiomyosarcoma. We manually selected 114 normal uterine tissue and 31 leiomyosarcoma samples from publicly available transcriptome data in UCSC Xena as training/validation sets. We developed pre-processing procedure and gene selection method to sensitively find genes of larger variance in leiomyosarcoma than normal uterine tissues. Through our method, 17 genes were selected to build transcriptome-based classifier. The prediction accuracies of deep feedforward neural network (DNN), support vector machine (SVM), random forest (RF), and gradient boosting (GB) models were examined. We interpret the biological functionality of selected genes via network-based analysis using GeneMANIA. To validate the performance of trained model, we additionally collected 35 clinical samples of leiomyosarcoma and leiomyoma as a test set (18 + 17 as 1st and 2nd test sets). RESULTS: We discovered genes expressed in a highly variable way in leiomyosarcoma while these genes are expressed in a conserved way in normal uterine samples. These genes were mainly associated with DNA replication. As gene selection and model training were made in leiomyosarcoma and uterine normal tissue, proving discriminant of ability between leiomyosarcoma and leiomyoma is necessary. Thus, further validation of trained model was conducted in newly collected clinical samples of leiomyosarcoma and leiomyoma. The DNN classifier performed sensitivity 0.88, 0.77 (8/9, 7/9) while the specificity 1.0 (8/8, 8/8) in two test data set supporting that the selected genes in conjunction with DNN classifier are well discriminating the difference between leiomyosarcoma and leiomyoma in clinical sample. CONCLUSION: The transcriptome-based classifier accurately distinguished uterine leiomyosarcoma from leiomyoma. Our method can be helpful in clinical practice through the biopsy of sample in advance of surgery. Identification of leiomyosarcoma let the doctor avoid of laparoscopic surgery, thus it minimizes un-wanted tumor spread.


Assuntos
Leiomioma , Leiomiossarcoma , Neoplasias Uterinas , Feminino , Humanos , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/genética , Leiomiossarcoma/patologia , Diagnóstico Diferencial , Leiomioma/diagnóstico , Leiomioma/genética , Leiomioma/patologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Perfilação da Expressão Gênica/métodos
18.
JMIR Mhealth Uhealth ; 11: e46718, 2023 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-38051574

RESUMO

BACKGROUND: Reproductive health conditions such as endometriosis, uterine fibroids, and polycystic ovary syndrome (PCOS) affect a large proportion of women and people who menstruate worldwide. Prevalence estimates for these conditions range from 5% to 40% of women of reproductive age. Long diagnostic delays, up to 12 years, are common and contribute to health complications and increased health care costs. Symptom checker apps provide users with information and tools to better understand their symptoms and thus have the potential to reduce the time to diagnosis for reproductive health conditions. OBJECTIVE: This study aimed to evaluate the agreement between clinicians and 3 symptom checkers (developed by Flo Health UK Limited) in assessing symptoms of endometriosis, uterine fibroids, and PCOS using vignettes. We also aimed to present a robust example of vignette case creation, review, and classification in the context of predeployment testing and validation of digital health symptom checker tools. METHODS: Independent general practitioners were recruited to create clinical case vignettes of simulated users for the purpose of testing each condition symptom checker; vignettes created for each condition contained a mixture of condition-positive and condition-negative outcomes. A second panel of general practitioners then reviewed, approved, and modified (if necessary) each vignette. A third group of general practitioners reviewed each vignette case and designated a final classification. Vignettes were then entered into the symptom checkers by a fourth, different group of general practitioners. The outcomes of each symptom checker were then compared with the final classification of each vignette to produce accuracy metrics including percent agreement, sensitivity, specificity, positive predictive value, and negative predictive value. RESULTS: A total of 24 cases were created per condition. Overall, exact matches between the vignette general practitioner classification and the symptom checker outcome were 83% (n=20) for endometriosis, 83% (n=20) for uterine fibroids, and 88% (n=21) for PCOS. For each symptom checker, sensitivity was reported as 81.8% for endometriosis, 84.6% for uterine fibroids, and 100% for PCOS; specificity was reported as 84.6% for endometriosis, 81.8% for uterine fibroids, and 75% for PCOS; positive predictive value was reported as 81.8% for endometriosis, 84.6% for uterine fibroids, 80% for PCOS; and negative predictive value was reported as 84.6% for endometriosis, 81.8% for uterine fibroids, and 100% for PCOS. CONCLUSIONS: The single-condition symptom checkers have high levels of agreement with general practitioner classification for endometriosis, uterine fibroids, and PCOS. Given long delays in diagnosis for many reproductive health conditions, which lead to increased medical costs and potential health complications for individuals and health care providers, innovative health apps and symptom checkers hold the potential to improve care pathways.


Assuntos
Endometriose , Leiomioma , Humanos , Feminino , Endometriose/diagnóstico , Endometriose/complicações , Saúde Reprodutiva , Leiomioma/diagnóstico , Leiomioma/complicações , Prevalência
19.
Int J Mol Sci ; 24(21)2023 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-37958957

RESUMO

Uterine fibroids (UFs) are common tumors in women of reproductive age. It is imperative to comprehend UFs' associated risk factors to facilitate early detection and prevention. Simple relying on surgical/pharmacological treatment of advanced disease is not only highly expensive, but it also deprives patients of good quality of life (QOL). Unfortunately, even if the disease is discovered early, no medical intervention is traditionally initiated until the disease burden becomes high, and only then is surgical intervention performed. Furthermore, after myomectomy, the recurrence rate of UFs is extremely high with the need for additional surgeries and other interventions. This confused approach is invasive and extremely costly with an overall negative impact on women's health. Secondary prevention is the management of early disease to slow down its progression or even halt it completely. The current approach of watchful observation for early disease is considered a major missed opportunity in the literature. The aim of this article is to present an approach named the ESCAPE (Evidence-Based Approach for Secondary Prevention) of UF management. It comprises simple, inexpensive, and safe steps that can arrest the development of UFs, promote overall reproductive health, decrease the number of unnecessary surgeries, and save billions of health care systems' dollars worldwide.


Assuntos
Leiomioma , Miomectomia Uterina , Neoplasias Uterinas , Humanos , Feminino , Qualidade de Vida , Neoplasias Uterinas/prevenção & controle , Neoplasias Uterinas/patologia , Prevenção Secundária , Leiomioma/prevenção & controle , Leiomioma/diagnóstico , Miomectomia Uterina/efeitos adversos
20.
Obstet Gynecol Clin North Am ; 50(4): 663-675, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37914486

RESUMO

Uterine fibroids significantly impact women's reproductive health, influencing fertility potential and pregnancy outcomes. Their growth, often facilitated by hormonal influences like estrogen and progesterone, can cause considerable disruptions in the uterus, leading to symptoms and complications that impact the quality of life and reproductive prospects of women.This article provides an exhaustive discussion of uterine fibroids, including pathophysiology, their impact on endometrial function, receptivity, fertility, and pregnancy outcomes, and the management of infertility in patients with uterine fibroids. It underlines the critical role of uterine fibroids in women's reproductive health, emphasizing the importance of effective diagnosis and treatment to promote fertility and improve pregnancy outcomes.


Assuntos
Leiomioma , Miomectomia Uterina , Neoplasias Uterinas , Gravidez , Humanos , Feminino , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/terapia , Qualidade de Vida , Leiomioma/complicações , Leiomioma/diagnóstico , Leiomioma/terapia , Fertilidade
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