title: A Case of T-cell Acute Lymphoblastic Leukemia Relapsed As Myeloid Acute Leukemia.
abstract: A 4-year-old male with the diagnosis of T-cell acute lymphoblastic leukemia (T-ALL) relapsed after 19 months with an acute myeloid leukemia (AML). Immunoglobulin and T-cell receptor gene rearrangements analyses reveal that both leukemias were rearranged with a clonal relationship between them. Comparative genomic hybridization (Array-CGH) and whole-exome sequencing analyses of both samples suggest that this leukemia may have originated from a common T/myeloid progenitor. The presence of homozygous deletion of p16/INK4A, p14/ARF, p15/INK4B, and heterozygous deletion of WT1 locus remained stable in the leukemia throughout phenotypic switch, revealing that this AML can be genetically associated to T-ALL.
authors.affiliation: Clinica di Oncoematologia Pediatrica dell'Azienda Ospedaliera di Padova, Padova, Italy.
authors.forename: Maddalena
authors.initials: M
authors.lastname: Paganin
authors.affiliation: Dipartimento di Salute della Donna e del Bambino, Università di Padova, Padova, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Buldini
authors.affiliation: Laboratorio di Oncoematologia Pediatrica, Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Germano
authors.affiliation: Dipartimento di Salute della Donna e del Bambino, Università di Padova, Padova, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Seganfreddo
authors.affiliation: Laboratorio di Oncoematologia Pediatrica, Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy.
authors.forename: Annamaria di
authors.initials: Ad
authors.lastname: Meglio
authors.affiliation: Dipartimento di Salute della Donna e del Bambino, Università di Padova, Padova, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Magrin
authors.affiliation: Dipartimento di Salute della Donna e del Bambino, Università di Padova, Padova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Grillo
authors.affiliation: Dipartimento di Salute della Donna e del Bambino, Università di Padova, Padova, Italy.|Laboratorio di Oncoematologia Pediatrica, Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Pigazzi
authors.affiliation: Centro di Ricerca Tettamanti, Clinica Pediatrica, Università di Milano, Bicocca, Milano, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rizzari
authors.affiliation: Centro di Ricerca Tettamanti, Clinica Pediatrica, Università di Milano, Bicocca, Milano, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cazzaniga
authors.affiliation: Systems Biology Department, Columbia University, New York.|Department of Biomedical Informatics, Columbia University, New York.
authors.forename: Hossein
authors.initials: H
authors.lastname: Khiabanian
authors.affiliation: Institute for Cancer Genetics, Columbia University, New York.|Department of Pathology, Columbia University, New York.
authors.forename: Teresa
authors.initials: T
authors.lastname: Palomero
authors.affiliation: Systems Biology Department, Columbia University, New York.|Department of Biomedical Informatics, Columbia University, New York.
authors.forename: Raul
authors.initials: R
authors.lastname: Rabadan
authors.affiliation: Institute for Cancer Genetics, Columbia University, New York.|Department of Pathology, Columbia University, New York.|Department of Pediatrics, Columbia University, New York.
authors.forename: Adolfo A
authors.initials: AA
authors.lastname: Ferrando
authors.affiliation: Dipartimento di Salute della Donna e del Bambino, Università di Padova, Padova, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Basso
mesh_terms: D002675:Child, Preschool; D017353:Gene Deletion; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000209:etiology* / Q000235:genetics; D008297:Male; D009154:Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000235:genetics; D012008:Recurrence
keywords: T-ALL; switch lineage; whole-exome sequencing