ABSTRACT: A highly malignant succinate dehydrogenase-deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma-a case report and literature review
Project description:Loss-of-function mutations in genes encoding the Krebs cycle enzymes Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) induce accumulation of fumarate and succinate, respectively and predispose patients to hereditary cancer syndromes including the development of aggressive renal cell carcinoma (RCC). Fumarate and succinate competitively inhibit αKG-dependent dioxygenases, including Lysine-specific demethylase 4A/B (KDM4A/B), leading to suppression of the homologous recombination (HR) DNA repair pathway. In this study, we evaluated novel treatment approaches in newly generated models of FH- and SDHB-deficient RCC.
Project description:Renal transplantation in patients with cryopyrin-associated periodic syndrome: a case report and literature review
| PRJEB73450 | ENA
Project description:Skin abscess caused by Trueperella bernardiae: case report and literature review
| PRJNA1029584 | ENA
Project description:Palliative treatment of generalized metastatic follicular carcinoma of thyroid after operation: a case report and literature review
Project description:ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a novel case showing misleading TFE3 expression and loss of chromosome 3 and literature review
| PRJNA380258 | ENA
Project description:Complete Response to Disitamab Vedotin (RC48) in HER2-low Metastatic Endometrial Carcinoma: A Case Report and Review of the Literature
