Isolated deep infiltrating endometriosis (DIE) of sacral nerve roots or major pelvic nerves, including the sciatic nerve, is considered to be extremely rare. Due to the overlap with sciatica symptoms, the diagnosis of sciatica DIE is difficult yet crucial, as it results in permanent neural damage if left untreated. We report a case of a 45-year-old woman who experienced a three-year-long and recently exacerbating pain in her right leg, accompanied by a tingling sensation and weakness in her right leg and foot, with difficulty walking. In between regular menstrual bleedings, when her aforementioned symptoms worsened, she had been experiencing mild 10-day extra-cyclical bleeding. Her neurologist’s, orthopedist’s, and gynecological examinations were unremarkable. Magnetic resonance imaging (MRI) showed an infiltrative lesion on the right sciatic nerve that was immunohistochemically confirmed to be endometriosis. The patient was treated with gonadotropin-releasing hormone analogues (GnRHa), which led to a significantly diminished size of the lesion on the control MRI, and endometriosis remission was obtained. For persistent mild, but cyclical, pain and muscle weakness, continuous progestagnes were administered, with advice for physical therapy provided for her neuro-muscle rehabilitation and a scheduled check-up in 6 months.

Background: Costello syndrome (CS) is a rare RASopathy, mostly caused by de novo heterozygous pathogenic variants in the HRAS gene. Over 80% of cases involve the germline p.Gly12Ser variant, resulting in a fairly uniform phenotype of neuro‐cardio‐facio‐cutaneous involvement with an increased risk of malignancy. Consequences of other rare HRAS variants are less well understood due to the limited number of reported cases. Methods: An adult, young woman was referred due to sparse, slow‐growing scalp hair, Blaschko‐linear hyperpigmentation, acanthosis nigricans, palmoplantar hyperkeratosis, and joint hyperlaxity. Molecular, imaging, and detailed laboratory studies were performed. Results: Although initial clinical exome‐ and whole‐exome sequencing (WES) were inconclusive, indicating possible mosaicism, subsequent WES from hair‐derived DNA samples revealed somatic mosaicism for the rare HRAS p.Gly13Asp variant. Brain MRIs showed a cerebral cavernoma, while cardiological evaluation, urinalysis, abdominal, and pelvic ultrasound were unremarkable. Nevertheless, she remains under close follow‐up. Conclusion: Among the ten reported individuals carrying the p.Gly13Asp variant, our patient is only the second with confirmed mosaicism and the fifth mosaic CS case described to date. This case expands the phenotypic spectrum of CS and highlights the need for multi‐tissue analysis in attenuated or atypical presentations to ensure a correct diagnosis, oncological risk assessment, and informed genetic and reproductive counseling.

Introduction: Redox imbalance is an important factor in both carcinogenesis and progression of renal cell carcinoma. Numerous studies are focused on finding potential biomarkers that can aid in early detection, as well as in monitoring disease progression. Among the candidates there are genes coding for antioxidant enzymes - superoxide dismutase 2 (SOD2) and glutathione S -transferase (GST). Aim: This study aims to assess the role of SOD2 and GST genes polymorphisms as risk biomarkers for papillary renal cell carcinoma (pRCC), along with their impact on the survival of these patients. Material and methods: This study included 39 patients and 336 controls. The following polymorphisms were determined by appropriate PCR methods: SOD2 (rs4880), GSTA1 C69T, GSTM1, GSTT1, and GSTP1 (rs1695) . ELISA method was used to measure 8-hydroxy-2'-deoxyguanosine (8-OHdG) and benzo(a)pyrene diol epoxide (BPDE)-DNA adducts plasma level. The effect of the polymorphisms on postoperative prognosis was examined using the available survival data. Results: There was no significant difference in the distribution of SOD2, GSTA1, GSTM1, and GSTT1 gene variants between patients and controls (p > 0.05). However GSTP1 variant (GSTP1 * IleVal + ValVal) genotype was statistically significantly more frequent in patients compared to controls (p < 0.05). Similarly, carriers of GSTP1 variant genotype were at significantly higher risk of developing carcinoma compared to carriers of GSTP1 reference genotype (OR = 16.103, 95% IP = 2.036 - 127.398). There was no association between the level of both 8-OHdG and BPDE-DNA adducts, and different genotypes (p > 0.05). The investigated polymorphisms did not show any prognostic significance (p > 0.05). Conclusion: These results indicate that the GSTP1 variant genotype was related to an increased risk of papillary renal cell carcinoma development. In order to fully understand the effect of investigated polymorphisms as a potential risk and prognostic biomarkers of this cancer, further research with a bigger sample size and longer follow-up are required.