With the development of modern medicine and the application of multimodal treatment strategies, the survival rate after childhood malignant tumors as well as the incidence of Secondary malignant neoplasm (SMN) have increased. Patient is a Chinese girl. Initially diagnosed with Wilms tumor affecting her left kidney at the age of 6, she was later found to have -rearranged renal cell carcinoma (rRCC) affecting her right kidney at the age of 12. Employing NGS technology on specimens obtained from the -rRCC, we uncovered a significant somatic mutation within gene. This discovery sheds new light on the intricate genetic landscape underlying her condition, paving the way for further exploration and personalized treatment strategies. We consider that the etiology of SMN may be the result of chemoradiotherapy.
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http://dx.doi.org/10.1080/15513815.2024.2402383 | DOI Listing |
NAR Cancer
March 2025
School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.
Cancer cells display complex genomic aberrations that include large-scale genetic rearrangements and epigenetic modulation that are not easily captured by short-read sequencing. This study presents a novel approach for simultaneous profiling of long-range genetic and epigenetic changes in matched cancer samples, focusing on clear cell renal cell carcinoma (ccRCC). ccRCC is a common kidney cancer subtype frequently characterized by a 3p deletion and the inactivation of the von Hippel-Lindau () gene.
View Article and Find Full Text PDFMod Pathol
March 2025
Department of Urology, Institute of Urology, Sichuan Clinical Research Center for Kidney and Urologic Diseases, West China Hospital, Sichuan University, Chengdu, China. Electronic address:
TFE3-rearranged renal cell carcinoma (TFE3-RCC) is a rare but aggressive subtype of kidney cancer that mainly affects young patients. However, the molecular characteristics of TFE3-RCCs in children and adolescents remain poorly understood. To this end, we performed a comprehensive study to characterize the genomic and transcriptional profiles of pediatric/adolescent TFE3-RCCs and compare them with those of adult tumors.
View Article and Find Full Text PDFCell Commun Signal
March 2025
Department of Urology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, No. 321 Zhongshan Road, Nanjing, Jiangsu Province, 210008, China.
Background: TFE3 rearranged renal cell carcinoma (TFE3 rRCC), classified as a distinct entity of RCCs, exhibits aggressive biological behavior and possesses unique metabolic characteristics. In the present study, TFE3 rRCC with high expression of TFE3 fusion proteins was employed to investigate the features of lipid metabolism and its underlying mechanism in cancer progression.
Methods: Fluorescence microscope and flow cytometry were employed to detect lipid droplets (LDs).
Ear Nose Throat J
February 2025
Department of Pathology, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Background: Sinonasal renal cell-like adenocarcinoma (SNRCLA) is a rare, low-grade malignant neoplasm originating in the nasal cavity and paranasal sinuses. This report provides a detailed account of the clinical and pathological characteristics of a single case of SNRCLA, highlights its differential diagnosis, and includes a review of relevant literature.
Case Description: A 13-year-old male presented with a mass in the right nasal cavity.
Virchows Arch
February 2025
Service de Pathologie, Département de Biologie et Pathologie Médicales, Gustave Roussy, 114 Rue Edouard Vaillant, 94805, Villejuif Cedex, France.
We report an additional case of FUS::CREM-rearranged neoplasm, with a distinctive clinical presentation and phenotype, in order to expand the spectrum of these tumors and to underline the major issues they raise in diagnosis and classification. A 52-year male patient, with a remote history of seminoma, presented with multiple lung, pancreatic, and renal tumor nodules, containing large nests of medium-sized epithelioid, monomorphic, tumor cells, which did not express any epithelial marker, but expressed all neuroendocrine markers. S100 protein labeled sustentacular-like cells.
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