einstein (São Paulo)

Membrane transporter genes predict chemoradiotherapy response in patients with cervical cancer

This study aimed to explore membrane transporter gene expression as a predictive biomarker of chemoradiotherapy response in cervical cancer. The differential expression of ATP1B3 and SLCO1B3 accurately classified patients as responders or non-responders with 90% accuracy, highlighting their potential for personalized treatment strategies. Two gene groups with contrasting expression profiles were identified. The ATP1B3 and SLCOB3 gene profiles classified patients with 90% accuracy. The ATP1B3 and SLCOB3 gene signature is a potential predictor of treatment response. Cervical cancer is the fourth most common cancer in women worldwide. Resistance to chemoradiotherapy in cervical cancer has been widely associated with membrane transport-related genes, particularly those encoding efflux transport proteins, such as the ATP-binding cassette family members (including P-glycoprotein), which act by expelling chemotherapeutic agents from tumor cells, as well as solute carrier proteins, whose expression impairs the uptake of antineoplastic drugs by cancer cells. This study aimed to identify specific membrane transport-related gene expression profiles as potential biomarkers for predicting chemoradiotherapy response in cervical cancer. Cervical biopsies were collected from 31 patients (21 responders and 10 non-responders) at Hospital Luxemburgo - Instituto Mário Penna. Fluorescence-activated cell sorting was used to separate non-stem cancer cells from cervical cancer biopsies. cDNA libraries from the 21 responders and 10 non-responders were sequenced using the Illumina platform. Expression analysis was performed using R and the DESeq2 package, with differentially expressed genes identified based on log fold change >1 or <-1 and padj ≤0.05. WEKA software and decision tree methods were used to analyze membrane transporters. The results revealed two major gene groups with contrasting differentially expressed genes profiles. The first group, comprising SLC35 and ATP13, was overexpressed in non-responders, while the second group, consisting of SLC25 and ATP6, was overexpressed in responders. Decision tree analysis revealed that ATP1B3 and SLCOB3 expression profiles accurately classified patients into responder and non-responder groups with 90% accuracy, indicating that ATP1B3 and SLCOB3 are potential predictors of chemoradiotherapy response. Our results strongly suggest the presence of a candidate gene signature comprising ATP1B3 and SLCO1B3 that holds predictive value for chemoradiotherapy response in cervical cancer.

Psychological impact of gestational trophoblastic disease: a cross-sectional study

To evaluate the psychological repercussions of gestational trophoblastic disease. A cross-sectional study including 100 women (50 with gestational trophoblastic disease and 50 without) was conducted between September 2020 and October 2021. Socio-demographic characteristics, quality of life, depression, and anxiety were evaluated and follow-up was performed at a referral center. Women with gestational trophoblastic disease had a mean age and body mass index of 28.8±6.4 years and 24.7±5.0kg/m2, respectively; the corresponding values for the Control Group were 30.1±6.9 years (p=0.27) and 28.9±4.6kg/m2 (p<0.001). The Gestational Trophoblastic Disease Group presented a better general health status (p=0.04) than the Control Group. Among women with gestational trophoblastic disease, 62% and 46% had anxiety and depression, respectively; the corresponding percentages for women without gestational trophoblastic disease were 52% and 24% (p=0.64 and 0.08, respectively). Multidisciplinary follow-up at a referral center may improve the mental health and quality of life scores of women with gestational trophoblastic disease.

Nodular vulvar lesions and its key differential diagnoses: a case report

The etiologies of vulvar nodules range from infectious to neoplastic. Owing to the wide spectrum of vulvar diseases, clinical differentiation of the lesions is crucial for adequate diagnosis and management. A 46-year-old patient presented with a nodular lesion in the vulvar region that had been growing slowly for 10 years. Gynecological examination revealed the presence of a solid nodular lesion measuring approximately 3 cm in the middle third of the right labia majora without phlogistic signs or secretion discharge. The lesion was excised and an anatomopathological study revealed a nodular hidradenoma. Nodular hidradenoma is a rare benign neoplasm of the apocrine glands that mainly affects women between 30 and 60 years of age. Although generally asymptomatic, some symptoms have been described, such as itching, pain, ulceration, or secretory discharge. The diagnosis was made by an anatomopathological study, and treatment consisted of total excision of the lesion without the need to enlarge the margin. During the investigation, malignant lesions such as liposarcoma of the vulvar region and non-melanoma skin cancers were excluded. Differential diagnosis is important because it requires a more invasive approach and surgical margins. This report aimed to expand the knowledge of the diagnosis of vulvar hidradenoma to exclude the possibility of malignant neoplasia while caring for vulvar nodules, thereby allowing proper management of the case.

HPV-independent vulvar squamous cell carcinoma: a case report and review of the literature

Vulvar cancer, a rare gynecological malignancy, accounts for 3-5% of cases and is most commonly squamous cell carcinoma. Prognosis is poorer in cancers unrelated to human papillomavirus (HPV), often associated with chronic inflammation. We report the case of a 42-year-old woman from São Paulo, Brazil, who presented with a vulvar lesion initially misdiagnosed as an ingrown hair. Despite treatment, the lesion progressed, and subsequent evaluation revealed invasive squamous cell carcinoma. Biopsy confirmed HPV-independent disease, with immunohistochemistry demonstrating aberrant p53 expression. Molecular analysis identified differentiated vulvar intraepithelial neoplasia, underscoring the distinct molecular pathways of HPV-related and HPV-independent carcinogenesis. This case emphasizes the importance of early diagnosis, comprehensive histopathological assessment, and further research to improve management and outcomes in HPV-independent vulvar cancer.

Is the colposcopic lesion size a predictor of high-grade lesions in young patients?

This study aimed to evaluate whether severity changes with colposcopic lesion size, regardless of age. This retrospective comparative study reviewed the records of 428 women with altered cytopathology reports who were directed by primary health care. Only those women with colposcopic alterations were evaluated (n=411). Histopathological analyses were restricted to patients who underwent excisional treatment (n=345). According to their age, they were grouped into the following: 35 years, and also, ≤24 and ≥25 years. The cytopathological, colposcopic, and histopathological findings were grouped according to severity. Lesion size was subjectively assessed from the colposcopic drawing recorded in the chart and according to the number of quadrants of the total cervical surface affected by colposcopic alterations in the transformation zone. Statistical significance was set at p<0.05. The evaluations suggested that the lesion size was directly related to the severity of the cytopathology, colposcopy, and histopathology reports for the age groups ≤24 or ≥25 years. We observed associations between lesion size and severity of the cytopathology (≤24 years, p=0.037) and histopathology (≥25 years, p=0.003) findings. The size of the lesion was directly related to the severity of the histopathological lesion in patients aged ≥25 years and cytopathological in patients aged ≤24 years.

T2-weighted imaging hypointensity in an ovarian lesion: is it a benign finding?

To evaluate whether the presence of a hypointense signal at T2-weighted imaging in a solid ovarian lesion on magnetic resonance imaging is a predictor of stability and benignity. This is a single center study, prospectively read with retrospective acquired data. The database was searched for patients who underwent magnetic resonance imaging between January 2008 and October 2019 and whose reports mentioned solid ovarian lesions with low signal on T2-weighted imaging. A total of 47 nodules were included. A radiologist who was blinded to the clinical indication for magnetic resonance imaging and original reports evaluated the cases. Objective and subjective criteria of ovarian lesions in magnetic resonance imaging were evaluated. Thirty-five nodules were considered benign/stable and 12 were considered non-stable. The analysis showed that the non-stable lesions showed statistically more hyperintensity at T1-weighted imaging compared to the stable lesions. T2-weighted imaging hypointensity can be considered a predictor of stability in solid ovarian lesions when associated with iso/hypointensity in T1-weighted imaging.