We report the case of a patient with acute lymphoblastic leukaemia (ALL) who displayed a myeloid phenotype at relapse; the molecular IGH marker was conserved in the different phases of the disease. Next‐generation sequencing (NGS) analyses were performed to further characterize this peculiar case. A 40‐year‐old Caucasian female was admitted to our centre in November 2008 with axillary lymphadenopathy. Peripheral blood cell count showed anaemia, thrombocytopenia and a mild leucocytosis; peripheral blood smear morphology revealed the presence of myeloperoxidase‐negative blasts. Bone marrow (BM) aspirate showed 96% blast infiltration and the immunophenotype was diagnostic of a pro‐B ALL (Table ). No fusion genes were detected, while a 46 XX, t(2;16) (p11;p11) karyotype was found in 10/20 metaphases. The cerebrospinal fluid was negative for leukaemic infiltration.
A case of lineage switch from B-cell acute lymphoblastic leukaemia to acute myeloid leukaemia. Role of subclonal/clonal gene mutations / DELLA STARZA, Irene; Ceglie, Giulia; Nunes, Vittorio; Gianfelici, Valentina; Marinelli, Marilisa; Fuligni, Fabio; DE NOVI, LUCIA ANNA; De Propris, Maria Stefania; Vitale, Antonella; Chiaretti, Sabina; Guarini, Anna; Foà, Robin. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - (2015), pp. n/a-n/a. [10.1111/bjh.13800]
A case of lineage switch from B-cell acute lymphoblastic leukaemia to acute myeloid leukaemia. Role of subclonal/clonal gene mutations
CHIARETTI, sabina;GUARINI, Anna;Foà, Robin
2015
Abstract
We report the case of a patient with acute lymphoblastic leukaemia (ALL) who displayed a myeloid phenotype at relapse; the molecular IGH marker was conserved in the different phases of the disease. Next‐generation sequencing (NGS) analyses were performed to further characterize this peculiar case. A 40‐year‐old Caucasian female was admitted to our centre in November 2008 with axillary lymphadenopathy. Peripheral blood cell count showed anaemia, thrombocytopenia and a mild leucocytosis; peripheral blood smear morphology revealed the presence of myeloperoxidase‐negative blasts. Bone marrow (BM) aspirate showed 96% blast infiltration and the immunophenotype was diagnostic of a pro‐B ALL (Table ). No fusion genes were detected, while a 46 XX, t(2;16) (p11;p11) karyotype was found in 10/20 metaphases. The cerebrospinal fluid was negative for leukaemic infiltration.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
