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Gut-associated lymphoid tissue carcinoma analyzed using next-generation sequencing: A case report.

Pathol Res Pract

November 2024

Department of Pathology, Iwate Medical University School of Medicine, Morioka, Iwate 028-03694, Japan; Department of Pathology, Southern Tohoku Hospital, Koriyama, Fukushima 963-8052, Japan.

Article Synopsis
  • GALT carcinomas (GCs) are tumors derived from gut-associated lymphoid tissue, typically appearing as dome-shaped lesions with distinct microscopic features like dilated glands and lymphocyte-rich stroma.
  • A case study highlighted a 54-year-old man with a protruding rectal lesion, diagnosed as a GC after surgery, showing atypical tumor characteristics including a lack of common mucin markers.
  • Genetic analysis revealed mutations in the EGFR and TP53 genes, differing from standard adenoma-carcinoma mutations, suggesting further investigation is needed to understand the nature and origin of GCs.
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Article Synopsis
  • Diabetes is a serious health problem worldwide, with many patients developing kidney issues called diabetic nephropathy (DN) quickly after being diagnosed.
  • Researchers studied the genes of 113 patients with severe DN to see how genetic changes might cause the disease to get worse faster.
  • They found several important genetic mutations that could affect how some proteins work, possibly making DN progress more rapidly in these patients.
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Article Synopsis
  • The study investigated WDR72-associated distal renal tubular acidosis (WDR72-dRTA) in children under 18 from multiple centers in India, focusing on their clinical characteristics and genetic profiles.
  • A total of 22 patients were analyzed, revealing common symptoms like polyuria, poor growth, rickets, and a high prevalence of amelogenesis imperfecta, alongside specific genetic mutations, with most having biallelic nonsense variants.
  • Although most patients showed improvement in growth and maintained good kidney function during follow-up, some progressed to chronic kidney disease, indicating the need for careful long-term monitoring.
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Background: Li-Fraumeni syndrome (LFS), a hereditary condition attributed to TP53 pathogenic variants,(PV), is associated with high risks for various malignant tumors, including breast cancer. Notably, individuals harboring TP53 PVs are more likely (67-83%) to develop HER2 + breast cancer than noncarriers (16-25%). In this retrospective study, we evaluated the associations between TP53 variants and breast cancer phenotype.

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Non-small cell lung cancer (NSCLC) caused more deaths in 2017 than breast cancer, prostate, and brain cancers combined. This is primarily due to their aggressive metastatic nature, leading to more fatal rates of cancer patients. Despite this condition, there are no clinically approved drugs that can target metastasis.

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