RESUMO
Accurate diagnosis of partial hydatidiform moles (PHMs) is crucial for improving outcomes of gestational trophoblastic neoplasia. The use of short tandem repeat (STR) polymorphism analysis to distinguish between PHM and hydropic abortuses is instrumental; however, its diagnostic power has not been comprehensively assessed. Herein, we evaluated the diagnostic efficacy of STR in differentiating between PHM and hydropic abortus, thus providing an opportunity for early measurement of human chorionic gonadotropin for PHMs. We reviewed charts of STR polymorphism analysis performed on fresh villous specimens and patient blood samples using a commercial kit for 16 loci. The genetic classification of 79 PHMs was confirmed. STR was reliable in differentiating PHMs when at least 15 loci were available. Typically, PHMs are characterized by their triploidy, including two paternal and one maternal haploid contribution. In our sample, seven PHMs lacked the three-allelic loci, requiring fluorescence in situ hybridization (FISH) analysis to investigate imbalanced biparental conceptus and single-nucleotide polymorphism array analysis to reveal cytogenetic details. Of these PHMs, two, three, and one were identified as androgenetic/biparental mosaics (diploids), monospermic diandric monogynic triploids, and a typical dispermic diandric monogynic triploid, respectively. The remaining case was monospermic origin, but its ploidy details could not be available. Therefore, STR differentiated PHM from a biparental diploid abortus in most cases. However, PHM diagnosis may be compromised when STR is used as the sole method for cases displaying distinct cytogenetic patterns lacking the three-allelic loci, including androgenetic/biparental mosaicism. Therefore, FISH should be considered to confirm the diagnosis.
Assuntos
Mola Hidatiforme , Hibridização in Situ Fluorescente , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Humanos , Mola Hidatiforme/genética , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/patologia , Repetições de Microssatélites/genética , Feminino , Gravidez , Hibridização in Situ Fluorescente/métodos , Adulto , Neoplasias Uterinas/genética , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Pessoa de Meia-IdadeRESUMO
Endometrial cancer (EC) is the most prevalent gynaecological cancer in high-income countries and its incidence is continuing to rise sharply. Simple and objective tools to reliably detect women with EC are urgently needed. We recently developed and validated the DNA methylation (DNAme)-based women's cancer risk identification-quantitative polymerase chain reaction test for endometrial cancer (WID-qEC) test that could address this need. Here, we demonstrate that the stability of the WID-qEC test remains consistent regardless of: (i) the cervicovaginal collection device and sample media used (Cervex brush and PreservCyt or FLOQSwab and eNAT), (ii) the collector of the specimen (gynaecologist- or patient-based), and (iii) the precise sampling site (cervical, cervicovaginal and vaginal). Furthermore, we demonstrate sample stability in eNAT medium for 7 days at room temperature, greatly facilitating the implementation of the test into diagnostic laboratory workflows. When applying FLOQSwabs (Copan) in combination with the eNAT (Copan) sample collection media, the sensitivity and specificity of the WID-qEC test to detect uterine (i.e., endometrial and cervical) cancers in gynaecologist-taken samples was 92.9% (95% confidence interval [CI] = 75.0%-98.8%) and 98.6% (95% CI = 91.7%-99.9%), respectively, whilst the sensitivity and specificity in patient collected self-samples was 75.0% (95% CI = 47.4%-91.7%) and 100.0% (95% CI = 93.9%-100.0%), respectively. Taken together these data confirm the robustness and clinical potential of the WID-qEC test.
Assuntos
Metilação de DNA , Neoplasias do Endométrio , Humanos , Feminino , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/diagnóstico , Manejo de Espécimes/métodos , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Neoplasias Uterinas/genética , Neoplasias Uterinas/diagnóstico , Idoso , Detecção Precoce de Câncer/métodos , Adulto , Biomarcadores Tumorais/genéticaRESUMO
The current understanding of inflammatory myofibroblastic tumours (IMTs) of the gynaecological tract has recently been enhanced by their increased recognition. This increase is largely due to greater accessibility to RNA-based molecular assays used to identify their defining ALK rearrangements. This review summarises the clinical characteristics, morphological spectrum, immunohistochemical profile and molecular underpinnings of uterine IMT. Additionally, this review discusses practical diagnostic considerations including overlap between uterine IMT and smooth muscle tumours as well as pregnancy-associated uterine IMT. Finally, we highlight recent literature demonstrating the potential for aggressive behaviour in uterine IMT, including a novel risk stratification model for identifying high-risk IMT.
Assuntos
Neoplasias Uterinas , Humanos , Feminino , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/patologia , Neoplasias de Tecido Muscular/genética , Gravidez , Medição de Risco , Miofibroblastos/patologiaRESUMO
AIMS: While epithelioid trophoblastic tumour (ETT) primarily arises from the uterus, cases have been increasingly documented at extrauterine sites, originating from an ectopic gestation or presenting as a metastatic tumour, leading to the major differential diagnosis of somatic carcinoma with trophoblastic differentiation. The precise separation of a gestational trophoblastic tumour from its somatic carcinoma mimics is highly relevant and crucial for patient management and prognosis. METHODS AND RESULTS: We summarise the clinicopathological and molecular features of four challenging epithelioid malignancies presenting at extrauterine sites, with ETT as the main differential diagnosis. All four tumours demonstrated histological and immunohistochemical features overlapping between a somatic carcinoma and an ETT, combined with inconclusive clinical and imaging findings. Serum beta-hCG elevation was documented in two cases. Short tandem repeat (STR) genotyping was performed and was informative in all cases. The presence of a unique paternal allelic pattern in the tumour tissue confirmed the diagnosis of ETT in two cases with an initial consideration of either somatic carcinoma or suspicion of a gestational trophoblastic tumour. The presence of matching genetic profile with the patient's paired normal tissue was seen in two other cases (both initially considered as ETT), confirming their somatic origin, including one metastatic triple-negative breast carcinoma and one primary lung carcinoma. CONCLUSIONS: Diagnostic separation of ETT at an extrauterine site from its somatic carcinoma mimics can be difficult at the histological and immunohistochemical levels. STR genotyping offers a robust ancillary tool that precisely separates ETT from somatic carcinomas with trophoblastic differentiation.
Assuntos
Carcinoma , Doença Trofoblástica Gestacional , Neoplasias Uterinas , Gravidez , Feminino , Humanos , Genótipo , Doença Trofoblástica Gestacional/diagnóstico , Doença Trofoblástica Gestacional/genética , Doença Trofoblástica Gestacional/patologia , Carcinoma/genética , Útero/patologia , Repetições de Microssatélites , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologiaRESUMO
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/diagnósticoRESUMO
OBJECTIVE: To identify correlations between disease recurrence and adherence to NCCN posttreatment surveillance guidelines in patients who develop recurrent uterine cancer. METHODS: Retrospective analysis identified patients (n = 60) with recurrent uterine cancer and at least one surveillance visit with a gynecologic oncologist between 2011 and 2020. Adherence to NCCN guidelines and details of recurrence were recorded. RESULTS: Recurrent uterine cancer was identified in 60 patients with an average time to recurrence (TTR) of 25 months. Of those, 39 (65%) were adherent to NCCN surveillance guidelines and 36 (60%) were symptomatic at the time of recurrence diagnosis. Asymptomatic recurrence was diagnosed by imaging in 11 (46%), physical exam in 7 (29%), and blood work in 6 (25%) patients. Patients who were adherent to NCCN guidelines were diagnosed with recurrence on average 11 months earlier (p = 0.0336). Adherence was an independent predictor of TTR for all patients regardless of symptoms. There was no significant effect of age, race, primary language, or stage of disease on adherence. CONCLUSION: Adherence to NCCN posttreatment surveillance guidelines for uterine cancer is independently associated with an earlier diagnosis of recurrence.
Assuntos
Neoplasias do Endométrio , Neoplasias Uterinas , Humanos , Feminino , Estudos Retrospectivos , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/terapia , Fidelidade a DiretrizesRESUMO
OBJECTIVE: To examine whether uterine cancer symptoms differ between Black and White patients and how this may influence their stage at diagnosis. METHODS: Using the Surveillance, Epidemiology and End Results-Medicare database, we identified 2328 Black and 21,774 White patients with uterine cancer in 2008-2017. Their symptoms in the 18 months before diagnosis were categorized as postmenopausal bleeding (PMB) alone, PMB together with other symptoms (e.g., abdominal/pelvic pain, bloating), non-PMB symptoms alone, or no symptoms. Stage at diagnosis was dichotomized as advanced (i.e., regional/distant) versus localized. The association between race and stage was analyzed using regression models incrementally adjusting for symptoms and other patient characteristics. RESULTS: A larger proportion of Black than White patients experienced PMB together with other symptoms (63.1% versus 58.0%) or experienced non-PMB symptoms alone (13.1% versus 9.4%) (p < 0.001). Black patients had a higher risk of advanced-stage diagnosis than White patients (45.0% versus 30.3%, unadjusted RR = 1.52, 95% CI: 1.44-1.59). Adjusting for Black-White differences in symptoms attenuated the RR to 1.46 (95% CI: 1.39-1.53). Compared to PMB symptoms alone, having additional non-PMB symptoms (RR = 1.21, 95% CI: 1.15-1.26) and having non-PMB symptoms alone (RR = 1.99, 95% CI: 1.88-2.10) were associated with increased risk of advanced-stage diagnosis. Further adjusting for histology and other patient characteristics reduced Black-White disparity in advanced-stage diagnosis to 1.08 (95% CI: 1.03-1.14) but symptoms remained significantly associated with stage at diagnosis. CONCLUSIONS: Having non-PMB symptoms was associated with more advanced stage at diagnosis. Non-PMB symptoms were more common among Black than White patients, which might hinder symptom recognition/evaluation.
Assuntos
Neoplasias Uterinas , Idoso , Feminino , Humanos , Medicare , Estados Unidos/epidemiologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/epidemiologia , Brancos , Negro ou Afro-AmericanoRESUMO
A captive marmoset developed metastatic endometrioid carcinoma (EnC), a rare uterine tumor in non-human primates (NHPs). The neoplasm showed marked microscopical malignant and tubulopapillary aspects, immunopositivity for pan-cytokeratin, CK7, estrogen receptor, and a high mitotic index (Ki-67). These features may contribute to the diagnosis and therapeutics of EnC in NHPs.
Assuntos
Callithrix , Carcinoma Endometrioide , Doenças dos Macacos , Animais , Feminino , Carcinoma Endometrioide/veterinária , Carcinoma Endometrioide/patologia , Carcinoma Endometrioide/diagnóstico , Doenças dos Macacos/patologia , Doenças dos Macacos/diagnóstico , Neoplasias Uterinas/veterinária , Neoplasias Uterinas/patologia , Neoplasias Uterinas/diagnósticoRESUMO
Leiomyosarcoma (LMS) with osteoclast-like giant cells (OLGCs) is a rare entity with only 18 reported cases thus far. It is not known whether these OLGCs are a reactive or malignant component of LMS. Herein we describe the clinical, histologic, and molecular characteristics of 2 cases of LMS with OLGCs and perform a brief literature review. In 2 of our cases, the OLGCs, marked with CD68, had a low proliferation index with Ki67 and did not show diffuse positivity for smooth muscle markers by immunohistochemistry. By next-generation sequencing, one case harbored a clinically significant TP53 mutation, which has been reported in a significant subset of conventional LMSs. In this case, based on immunohistochemistry, OLGCs showed different molecular alterations as compared with LMS. Although we did not show a distinct immunophenotype or molecular profile for LMS with OLGCs, this study provides additional data on this rare entity.
Assuntos
Leiomiossarcoma , Neoplasias Pélvicas , Neoplasias Uterinas , Feminino , Humanos , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/genética , Osteoclastos/patologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Neoplasias Pélvicas/patologia , Células Gigantes/patologiaRESUMO
Placental site nodules (PSNs) are non-neoplastic remnants of chorionic-type intermediate trophoblastic cells from a previous gestation that form a well-defined single nodule or multiple nodules in the uterine and extrauterine sites. As the cases of PSNs transformed into gestational trophoblastic tumors were described in the literature, "atypical placental site nodules" (APSNs) have been considered as putative transitional lesions between PSNs and gestational trophoblastic tumors. Although histologic criteria and cutoff point of Ki-67 proliferation index for differentiating an APSN from a typical PSN have not been clearly defined, nodules larger than 5 mm with increased cellularity, a corded or nested appearance, marked nuclear atypia, increased mitotic activity, and an increased Ki-67 proliferation index (>5% or >8%) of intermediate trophoblastic cells seem to be accepted as diagnostic criteria for APSNs. However, some of the criteria, including lesion size and histologic features of the trophoblastic cells in the nodule are not only subjective but have features inherent of the intermediate trophoblastic cells of the fetal membrane and a typical PSN. We thought that it is not reasonable to consider them as diagnostic features of APSNs, if not associated with cellular proliferation. We present 2 cases of incidentally identified PSNs that were larger than 10 mm in size with a corded or nested arrangement of trophoblastic cells, which could have been categorized as APSNs according to the currently proposed criteria to discuss whether the currently proposed diagnostic criteria for APSNs are appropriate.
Assuntos
Doença Trofoblástica Gestacional , Complicações na Gravidez , Tumor Trofoblástico de Localização Placentária , Neoplasias Uterinas , Feminino , Gravidez , Humanos , Placenta/patologia , Antígeno Ki-67 , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Complicações na Gravidez/patologia , Útero/patologia , Doença Trofoblástica Gestacional/diagnóstico , Doença Trofoblástica Gestacional/patologia , Tumor Trofoblástico de Localização Placentária/diagnóstico , Tumor Trofoblástico de Localização Placentária/patologiaRESUMO
The tissue factor pathway inhibitor-2 (TFPI2) was recently identified as a diagnostic serum marker for ovarian clear cell carcinoma. Moreover, the immunohistochemical expression of TFPI2 in ovarian clear cell carcinoma was recently reported. This single-center retrospective study aimed to evaluate whether TFPI2 can be a specific biomarker for immunohistological diagnosis of endometrial clear cell carcinoma (ECCC). Immunohistochemical staining of TFPI2 in 55 endometrial carcinomas was evaluated at Nara Medical University Hospital. Thirteen ECCC samples were included as cases and 42 samples were included as a control (endometrioid carcinoma grade 1, 11 cases; grade 2, 11 cases; grade 3, 10 cases; serous carcinoma, 10 cases). The mean ± SD TFPI2 histoscore for diagnosing ECCC was 115.4 ± 87.9, which was significantly higher than that of non-ECCC (21.3 ± 45.9, P = 0.002). The best TFPI2 histoscore value obtained from the analyses of receiver operating characteristic curves for immunohistochemical diagnosis of ECCC was 15. With TFPI2 histoscores ≥15.0 as positive and <15.0 as negative, all 13 ECCC cases (100%) were positive for TFPI2, whereas 11 (26.2%) non-ECCC cases were positive for TFPI2. The sensitivity and specificity of TFPI2 for diagnosing ECCC were 100% and 73.8%, respectively. TFPI2 is expressed in ECCC and is useful for histopathological diagnosis.
Assuntos
Adenocarcinoma de Células Claras , Carcinoma Endometrioide , Neoplasias do Endométrio , Neoplasias Uterinas , Feminino , Humanos , Estudos Retrospectivos , Biomarcadores Tumorais/metabolismo , Neoplasias Uterinas/diagnóstico , Neoplasias do Endométrio/patologia , Carcinoma Endometrioide/patologia , Adenocarcinoma de Células Claras/diagnóstico , Adenocarcinoma de Células Claras/patologiaRESUMO
NTRK gene fusions are part of a paradigm shift in oncology, arising as one of the main genomic alterations with actionability in the so-called "agnostic setting." In gynecologic pathology, the recent description of uterine sarcoma resembling fibrosarcoma and with NTRK rearrangements ( NTRK -rearranged uterine sarcoma) highlights the importance of recognizing clinicopathological cues that can lead to genomic profiling. Herein, we report the case of a 43-year-old woman presenting with vaginal bleeding and pelvic mass. Histopathology of the tumor showed moderately atypical spindle cells arranged in long fascicles reminiscent of fibrosarcoma, along with immunohistochemical positivity for S100, CD34, and pan-tropomyosin receptor kinase. This prompted RNA-sequencing and the finding of a rare EML4::NTRK3 fusion. Clinical, histologic, and molecular findings are described, in addition to discussions regarding differential diagnoses and possible implications of the findings in clinical practice.
Assuntos
Fibrossarcoma , Neoplasias de Tecido Conjuntivo e de Tecidos Moles , Neoplasias Pélvicas , Sarcoma , Neoplasias de Tecidos Moles , Neoplasias Uterinas , Humanos , Feminino , Adulto , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Fibrossarcoma/diagnóstico , Neoplasias de Tecidos Moles/patologia , Fusão Gênica , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Proteínas de Fusão Oncogênica/genética , Rearranjo GênicoRESUMO
OPINION STATEMENT: The cornerstone of treatment for uterine sarcoma, regardless of histologic type, remains en bloc surgical resection with total hysterectomy. In the case of incidental diagnosis during another procedure, such as myomectomy, where a hysterectomy was not performed initially, completion hysterectomy or cervical remnant removal is recommended. The completion of additional surgical procedures, including bilateral salpingo-oophorectomy and lymphadenectomy, remains nuanced. Bilateral salpingo-oophorectomy remains controversial in the setting of most subtypes of uterine sarcoma, except in the case of hormone-receptor positivity, such as in low grade endometrial stromal sarcoma, where it is indicated as part of definitive surgical treatment. In the absence of apparent nodal involvement, we do not recommend performing universal lymphadenectomy for patients with sarcoma. We recommend systemic therapy for patients with extra-uterine or advanced stage disease, high-grade histology, and recurrence. The most active chemotherapy regimens for advanced, high-grade disease remain doxorubicin or gemcitabine and docetaxol combination therapy. A notable exception is low grade endometrial stromal sarcoma, where we recommend anti-hormonal therapy in the front-line setting. Radiation therapy is reserved for selected cases where it can aid in palliating symptoms.
Assuntos
Sarcoma , Neoplasias Uterinas , Humanos , Feminino , Neoplasias Uterinas/terapia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Sarcoma/terapia , Sarcoma/diagnóstico , Terapia Combinada/métodos , Estadiamento de Neoplasias , Gerenciamento Clínico , Gradação de Tumores , Resultado do Tratamento , HisterectomiaRESUMO
Choriocarcinoma is a highly vascular and invasive tumor of anaplastic trophoblast, predominantly made up of cytotrophoblasts and syncytiotrophoblasts without villi. Based on its origin, choriocarcinoma can be either gestational or non-gestational. Non-gestational choriocarcinoma can be of germ cell origin, or can be seen in association with a somatic high-grade malignancy. It is difficult to differentiate gestational from non-gestational choriocarcinoma, especially in the reproductive age group. It is important to distinguish between the two, for accurate staging and prognostication, deciding the primary treatment modality, (ie, surgery or chemotherapy), and tailoring follow-up timeframes after diagnosis. An extensive literature search was performed regarding all cases of non-gestational choriocarcinoma, published before March 2023. A note was made of whether the origin of choriocarcinoma was ascertained and how gestational choriocarcinoma was differentiated from non-gestational choriocarcinoma. The keywords used for literature search were "non-gestational choriocarcinoma", "primary choriocarcinoma", "ovarian choriocarcinoma", "ovarian germ cell tumors", or "choriocarcinomatous differentiation". This review aims to summarize the similarities and differences in the epidemiology, pathogenesis, clinical presentation, and management guidelines between gestational and non-gestational choriocarcinoma, which can form an important educational resource for clinicians and laboratory physicians dealing with such cases.
Assuntos
Coriocarcinoma não Gestacional , Humanos , Feminino , Gravidez , Coriocarcinoma não Gestacional/diagnóstico , Coriocarcinoma não Gestacional/patologia , Coriocarcinoma não Gestacional/terapia , Coriocarcinoma/diagnóstico , Coriocarcinoma/patologia , Coriocarcinoma/terapia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Neoplasias Uterinas/patologia , Neoplasias Uterinas/diagnósticoRESUMO
OBJECTIVE: Uterine leiomyomas are the most common benign uterine tumors. They are difficult to distinguish from their malignant counterparts-smooth muscle tumors of unknown malignant potential (STUMP) and leiomyosarcoma. The purpose of this study is to propose and validate the diagnostic accuracy of the MRI-based Oman-Canada Scoring System of Myometrial Masses (OCSSMM) to differentiate uterine leiomyomas from STUMP/leiomyosarcomas. METHODS: This is a retrospective study performed at two tertiary care centers. All patients with a pathology-proven uterine mass who underwent pre-operative pelvic MRI between January 2010 and January 2020 were included. Using a 1.5T MRI machine, sequences included were axial/coronal/sagittal T2 and T1 weighted imaging, axial diffusion weighted and apparent diffusion coefficient map, and axial or sagittal dynamic contrast-enhanced sequences. A scoring system was designed based on previously published worrisome MRI features for uterine leiomyosarcoma. Each feature was allocated a score from 0 to 2 according to the strength of association with malignancy. Subsequently, the MR images were blindly and independently reviewed by a fellowship-trained radiologist and a clinical fellow/senior resident. Each uterine mass was scored according to their imaging features. The scores were divided into five categories according to the sum of scores. Category III and above was considered positive for leiomyosarcoma/STUMP. Sensitivity, specificity, and positive and negative predictive values were calculated. RESULTS: A total of 244 women were included (age range 20-74 years, mean 40). Of these, 218 patients had benign leiomyoma, 13 had STUMP, and 13 had leiomyosarcoma. The sensitivity and specificity of the scoring system were 92.3% and 64.7%, respectively. The negative predictive value was 98.6%. No leiomyosarcoma was missed using this scoring system. The presence of non-cystic T2 hyperintensity or diffusion restriction in a uterine mass were the most sensitive signs of a leiomyosarcoma/STUMP. CONCLUSION: The proposed multi-parametric MRI scoring system may be useful in differentiating benign uterine leiomyomas from leiomyosarcomas/STUMP.
Assuntos
Leiomioma , Leiomiossarcoma , Imageamento por Ressonância Magnética , Neoplasias Uterinas , Humanos , Feminino , Leiomiossarcoma/diagnóstico por imagem , Leiomiossarcoma/patologia , Leiomiossarcoma/diagnóstico , Estudos Retrospectivos , Leiomioma/diagnóstico por imagem , Leiomioma/patologia , Pessoa de Meia-Idade , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/patologia , Neoplasias Uterinas/diagnóstico , Imageamento por Ressonância Magnética/métodos , Diagnóstico Diferencial , Adulto , Idoso , Sensibilidade e EspecificidadeRESUMO
Uterine leiomyomas (ULM) are the most common benign tumors of the female genitalia, while uterine leiomyosarcomas (ULMS) are rare. The sarcoma is diffuse growth, prone to hematogenous metastasis, and has a poor prognosis. Due to their similar clinical symptoms and morphological features, it is sometimes difficult to distinguish them, and the final diagnosis depends on histological diagnosis. Misdiagnosis of ULM as ULMS will lead to more invasive and extensive surgery when it is not needed, while misdiagnosis of ULMS as ULM may lead to delayed treatment and poor prognosis. This review searched and studied the published articles on ULM and ULMS, and summarized the potential markers for the differential diagnosis of ULMS. These markers will facilitate differential diagnosis and personalized treatment, providing timely diagnosis and potentially better prognosis for patients.
Assuntos
Biomarcadores Tumorais , Leiomioma , Leiomiossarcoma , Neoplasias Uterinas , Humanos , Feminino , Leiomioma/diagnóstico , Leiomioma/patologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Diagnóstico Diferencial , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/patologia , PrognósticoRESUMO
BACKGROUND: Cervical mullerian adenosarcoma is a rare uterine sarcoma, especially in young women. Its pathological features are low-grade malignant tumors with bidirectional differentiation, and the degree of malignancy is similar to that of low-grade endometrial stromal sarcoma. This paper reports the case of a young asexual patient who has been closely followed up after tumor resection and has not had any recurrences. CASE PRESENTATION: A 20-year-old, young asexual woman was diagnosed with cervical mullerian adenosarcoma with sarcomatous overgrowth (MASO). Cervical tumor resection was performed after admission, and the resection margin was negative. After the operation, she refused to undergo secondary surgery due to fertility requirements and did not receive adjuvant treatment. The patient was closely followed up after the operation and has not yet relapsed. CONCLUSION: A young woman with cervical MASO did not receive adjuvant treatment after cervical tumor resection. For women with fertility requirements, close follow-ups should be conducted after the operation to guard against tumor recurrence and radical tumor resection should be performed as early as possible after the patient no longer requires their fertility.
Assuntos
Adenossarcoma , Neoplasias do Colo do Útero , Neoplasias Uterinas , Humanos , Feminino , Adenossarcoma/cirurgia , Adenossarcoma/patologia , Adenossarcoma/diagnóstico , Adulto Jovem , Neoplasias do Colo do Útero/cirurgia , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/diagnóstico , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/patologia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Comportamento SexualRESUMO
Pseudo-Meigs syndrome is a rare syndrome characterized by hydrothorax and ascites associated with pelvic masses, and patients occasionally present with elevated serum cancer antigen-125 (CA125) levels. Hydropic leiomyoma (HLM) is an uncommon subtype of uterine leiomyoma characterized by hydropic degeneration and secondary cystic changes. Rapidly enlarging HLMs accompanied by hydrothorax, ascites, and elevated CA125 levels may be misdiagnosed as malignant tumors. Here, we report a case of HLM in a 45-year-old Chinese woman who presented with ascites and hydrothorax. Preoperative abdominopelvic CT revealed a giant solid mass in the fundus uteri measuring 20 × 15 × 12 cm. Her serum CA125 level was elevated to 247.7 U/ml, while her hydrothorax CA125 level was 304.60 U/ml. The patient was initially diagnosed with uterine malignancy and underwent total abdominal hysterectomy and adhesiolysis. Pathological examination confirmed the presence of a uterine hydropic leiomyoma with cystic changes. After tumor removal, the ascites and hydrothorax subsided quickly, with no evidence of recurrence. The patient's serum CA125 level decreased to 116.90 U/mL on Day 7 and 5.6 U/mL on Day 40 postsurgery. Follow-up data were obtained at 6 months, 1 year, and 2 years after surgery, and no recurrence of ascites or hydrothorax was observed. This case highlights the importance of accurate diagnosis and appropriate management of HLM to achieve successful outcomes.
Assuntos
Antígeno Ca-125 , Leiomioma , Síndrome de Meigs , Neoplasias Ovarianas , Neoplasias Uterinas , Humanos , Feminino , Leiomioma/diagnóstico , Leiomioma/complicações , Pessoa de Meia-Idade , Antígeno Ca-125/sangue , Síndrome de Meigs/diagnóstico , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/complicações , Neoplasias Uterinas/patologia , Diagnóstico Diferencial , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/sangue , Ascite/etiologia , Ascite/diagnóstico , Hidrotórax/etiologia , Hidrotórax/diagnóstico , Histerectomia , Proteínas de MembranaRESUMO
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.
Assuntos
Leiomioma , Neoplasias Pulmonares , Insuficiência Respiratória , Neoplasias Uterinas , Humanos , Feminino , Adulto , Leiomioma/patologia , Leiomioma/complicações , Leiomioma/diagnóstico , Insuficiência Respiratória/etiologia , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/patologia , Neoplasias Uterinas/patologia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Tomografia Computadorizada por Raios X , Hipóxia/etiologia , Diagnóstico DiferencialRESUMO
AIMS: To present a case series of 11 rare uterine tumors resembling ovarian sex cord tumors (UTROSCTs), and review the literature on this topic to offer up-to-date treatment management for UTROSCTs. METHOD: Eight cases from Fujian Cancer Hospital between January 2017 and May 2023 and three patients from Fujian Union Hospital between October 2012 and October 2020 were retrospectively reviewed. All cases were pathologically confirmed as UTROSCTs by two senior and experienced pathologists. Clinical behaviors, medical data, histopathological features, therapy approaches, and survival outcomes were discussed. RESULTS: The median age at initial diagnosis was 53 years (29-70 years). 3 (27.3%) patients were under 40. Seven cases presented with abnormal vaginal bleeding, one with menstrual disorder, one with abnormal vaginal secretion, and two patients were accidentally found by physical examination without any symptoms. Three patients were initially misdiagnosed with endometrial cancer by MRI. Curettage was performed in all cases. Nine of them were well diagnosed by routine curettage, except for two samples, which were identified after surgery. Immunohistochemical biomarkers, such as CD99, Desmin, WT-1, CK, Vimentin, SMA, α-Inhibin, Ki67, CD56, ER, PR, and CR, tend to be positive in UTRO SCs patients. Six patients underwent hysterectomy with bilateral salpingo-oophorectomy. Two cases received a radical hysterectomy with bilateral salpingo-oophorectomy, retroperitoneal lymph node dissection, and omentum dissection. Three UTROSCTs were under observation after mass resection. The median PFS was 24 months (range 1-125 months). CONCLUSION: UTROSCT is a rare mesenchymal tumor with low malignant potential. Treatment modalities should be carefully considered to balance the therapy outcomes and patient needs. Surgery conservative management might be suitable for young women with fertility desires.