A5076119115- Cancer Genomics and Diagnostics
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Chromosomal and Genetic Variations
- Science, Research, and Medicine
- Vascular Tumors and Angiosarcomas
- Lung Cancer Treatments and Mutations
- Cutaneous lymphoproliferative disorders research
- Prenatal Screening and Diagnostics
- Lymphatic System and Diseases
- Renal cell carcinoma treatment
- Genomic variations and chromosomal abnormalities
- Cancer Cells and Metastasis
- Renal and related cancers
- Genetic and Kidney Cyst Diseases
Fondazione IRCCS Istituto Nazionale dei Tumori
2016-2022
University of Chieti-Pescara
2014
Renal cell carcinomas (RCCs) represent 2-5% of kidney malignancies in children and adolescents. Appropriate diagnostic classification are crucial for the correct management patients order to avoid inappropriate pre-operative chemotherapy, which is usually recommended if a Wilms' tumour suspected.A French-Italian series 93 renal collected from 1990 2019 aged less than 18 years was reclassified according 2016 World Health Organization (WHO) latest literature. TFE3 TFEB fluorescence in-situ...
We report a case of two year-old girl with persistent thrombocytopenia, syndactyly, and mild psychomotor delay speech delay. Proband chromosomal analysis from peripheral blood detected mosaicism cell lines: the first ring chromosome 21 46,XX,r (21) (88%), second 45,XX,-21 (12%). In uncultured cells level was 15% for 46,XX,r(21) line 85% line. A different on buccal smear r(21) in 94%, monosomy 6% cells. The findings lines are consistent loss