RESUMO
We aimed at molecularly dissecting the anatomical heterogeneity of small lymphocytic lymphoma (SLL), by analysing a cohort of 12 patients for whom paired DNA from a lymph node biopsy and circulating cells, as well as plasma-circulating tumour DNA (ctDNA) was available. Notably, the analyses of the lymph node biopsy and of circulating cells complement each other since a fraction of mutations (20·4% and 36·4%, respectively) are unique to each compartment. Plasma ctDNA identified two additional unique mutations. Consistently, the different synchronous sources of tumour DNA complement each other in informing on driver gene mutations in SLL harbouring potential prognostic and/or predictive value.
Assuntos
Aberrações Cromossômicas , DNA de Neoplasias/sangue , Leucemia Linfocítica Crônica de Células B/patologia , Linfonodos/patologia , Adenina/análogos & derivados , Adenina/uso terapêutico , Idoso , Biópsia , Deleção Cromossômica , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 13/ultraestrutura , Cromossomos Humanos Par 17/ultraestrutura , Variações do Número de Cópias de DNA , DNA de Neoplasias/análise , Feminino , Genes de Imunoglobulinas , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Imunoterapia , Leucemia Linfocítica Crônica de Células B/sangue , Leucemia Linfocítica Crônica de Células B/genética , Linfonodos/química , Masculino , Pessoa de Meia-Idade , Mutação , Piperidinas/uso terapêuticoRESUMO
We report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype. We recommend systematic cytogenetic examinations complemented by fluorescent in situ hybridization as second-line screening in all patients suspected for hereditary RB despite negative RB1 molecular screening and normal phenotype.