Although most colorectal (CRC) and endometrial cancers (EC) are sporadic, a clinically relevant proportion results from hereditary cancer predisposition syndromes, particularly Lynch syndrome (LS). Next-generation sequencing (NGS) enables comprehensive germline testing; however, optimal diagnostic pathways for clinical practice remain under discussion. A germline NGS panel targeting 12 hereditary cancer predisposition genes (MLH1, MSH2, EPCAM, MSH3, MSH6, PMS2, APC, MUTYH, BMPR1A, SMAD4, STK11, PTEN) was applied to 430 individuals (340 cancer patients, 5 individuals with polyposis without cancer, and 85 unaffected family members) from the Polish (Lower Silesia) population. MLPA analysis was performed in 48 selected cases. Tumour-based data from 183 CRC/EC cases included MMR/MSI status, KRAS/NRAS/BRAF mutations, MLH1 promoter methylation, and POLE analysis in EC. NGS identified germline pathogenic/likely pathogenic variants (PV/LPV) in 32/430 individuals (7.44
Atypical teratoid rhabdoid tumor is a rare, highly aggressive embryonal neoplasm of the central nervous system, and primary spinal presentations in older adolescents are exceptionally uncommon, with very limited comparative data in the literature. We report a 17-year-old male with cauda equina syndrome due to an intradural lumbar lesion initially interpreted radiologically and intraoperatively as myxopapillary ependymoma or schwannoma. Histopathological findings revealed a highly cellular small round blue cell tumor with rhabdoid morphology, high proliferative activity and complete loss of nuclear SMARCB1/INI1 expression. DNA methylation profiling assigned the lesion to the atypical teratoid rhabdoid tumor MYC molecular subgroup with SMARCB1 loss-of-function. The patient received intensive multimodal therapy including craniospinal irradiation and multi-agent chemotherapy. This case highlights the diagnostic value of integrated histopathological and molecular classification in an unusual spinal tumor occurring in an adolescent. In particular, DNA methylation profiling was crucial for confirming the diagnosis and assigning the tumor to the ATRT-MYC subgroup.
Myxopapillary ependymoma (MPE) is an uncommon spinal ependymal tumor that usually arises as a solitary intradural extramedullary (IDEM) lesion in the conus medullaris, cauda equina, or filum terminale. MPE is designated WHO grade 2 since the 2021. Synchronous multifocal spinal MPE at initial presentation is rare and creates uncertainty regarding the extent and timing of surgery. A 34-year-old man with no significant medical history presented with sudden severe non-radicular low-back pain and no neurological deficit. Contrast-enhanced MRI of the brain and entire spine showed multiple enhancing IDEM lesions confined to the lumbosacral region (T12–L1, L2, L3–L4, L4–L5, and S1). The dominant right-sided T12–L1 lesion markedly compressed the conus medullaris/proximal cauda equina. Complete microsurgical resection of this lesion was performed, and histopathology confirmed MPE, WHO grade 2 (Ki-67 ≤ 2–3
Depression is highly prevalent among individuals diagnosed with cancer and associated with reduced wellbeing, physical function, and increased mortality risk. Emerging evidence suggests that physiological factors such as body composition and systemic inflammation are associated with symptom severity and may help identify individuals diagnosed with cancer who are at greater risk of depression. This study examined whether the skeletal muscle-to-visceral fat ratio (SVR) is associated with depressive symptom severity in cancer survivors, and whether inflammatory biomarkers and behavioral factors mediate this relationship. This cross-sectional analysis of 541 adult cancer survivors, obtained from National Health and Nutrition Examination Survey (NHANES, 2011–2018), examined associations between body composition, inflammation, and depression symptom severity. Body composition was indexed by SVR (DEXA-derived), inflammation was assessed via white blood cell (WBC) count and high sensitivity C-reactive proteins (HS-CRP), and depression symptom severity was measured using the Patient Health Questionnaire-9 (PHQ-9). Complex sample generalized linear models examined associations between predictors and PHQ-9, followed by mediation analyses testing WBC, HS-CRP, and physical activity as mediators. SVR was significantly and inversely associated with PHQ-9 scores in unadjusted (b = − 0.501, 95
