Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma

Highlights • Second primary tumors can be hard to distinguish from retinoblastoma metastases • Molecular analyses for RB1 mutations and somatic copy number changes aids diagnosis • Inverse PCR defines deletion breakpoints, enabling personalized mutation assays

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Bibliographische Detailangaben
Veröffentlicht in:	Cancer genetics 2016-07, Vol.209 (7-8), p.359-363
Hauptverfasser:	Racher, Hilary, Soliman, Sameh, Argiropoulos, Bob, Chan, Helen S.L, Gallie, Brenda L, Perrier, Renée, Matevski, Donco, Rushlow, Diane, Piovesan, Beata, Shaikh, Furqan, MacDonald, Heather, Corson, Timothy W
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Chromosome Breakage Codon, Nonsense Diagnosis, Differential differential diagnosis Fatal Outcome Female Gene Dosage Hematology, Oncology and Palliative Medicine Humans Infant inverse PCR Male Medical Education metastasis mutation detection Neoplasm Metastasis Neoplasms, Second Primary - genetics Polymerase Chain Reaction - methods Retinal Neoplasms - genetics Retinoblastoma Retinoblastoma - genetics Retinoblastoma Binding Proteins - genetics second primary tumor Ubiquitin-Protein Ligases - genetics
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Beschreibung
Zusammenfassung:	Highlights • Second primary tumors can be hard to distinguish from retinoblastoma metastases • Molecular analyses for RB1 mutations and somatic copy number changes aids diagnosis • Inverse PCR defines deletion breakpoints, enabling personalized mutation assays
ISSN:	2210-7762 2210-7770
DOI:	10.1016/j.cancergen.2016.06.001