Asunto(s)
Mutación de Línea Germinal , Factor de Transcripción PAX5/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Adulto , Niño , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Linaje , Leucemia-Linfoma Linfoblástico de Células Precursoras B/congénito , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologíaRESUMEN
Congenital leukemia is a rare subgroup of childhood leukemia. Lineage switches in leukemic cells are relatively rare events, which have been occasionally reported in congenital leukemia. To the best of our knowledge, the survival of congenital leukemia patients with lineage switch has not been previously documented. This lack of documentation may be attributable to extremely poor prognosis of these patients. We describe a case of a newborn female with initial diagnosis of MLL-AF4 positive B-precursor acute lymphoblastic leukemia, who developed lineage switch to acute monocytic leukemia following the induction therapy. Although morphological remission was temporary, she received an HLA-haploidentical bone marrow transplant from her father with non-remission status because of an early relapse at the age of 4 months. Despite many difficulties such as graft-versus-host disease, growth impairment, and psychomotor retardation, she remained in remission for 3 years and 7 months after the transplant. This successful outcome suggests that the graft-versus-leukemia effect was potentially accomplished in the patient. Taken together, early HLA-haploidentical stem cell transplant following remission is required for congenital leukemia patients with lineage switch, and it may be an effective alternative for refractory patients.
Asunto(s)
Antígenos HLA/inmunología , Leucemia Monocítica Aguda/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamiento farmacológico , Trasplante de Células Madre , Femenino , Haplotipos , Humanos , Quimioterapia de Inducción , Recién Nacido , Leucemia Monocítica Aguda/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras B/congénito , Leucemia-Linfoma Linfoblástico de Células Precursoras B/inmunología , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patología , Recurrencia , Inducción de Remisión , Factores de TiempoRESUMEN
Congenital leukemia is a rare malignancy. Most of the neonatal cases reported have acute nonlymphoblastic leukemia. A number of chromosomal translocations and deletions have been found carrying an unfavorable prognosis. We report a newborn with congenital leukemia with leukemia cutis. The patient died before chemotherapy was started. The chromosome analysis showed 46, XY, t (4:11) (q21;q23). FISH for 11q23 MLL gene rearrangement showed positivity in 58% of interphase cells examined. Flow cytometry was reported with precursor B-cell acute lymphoblastic leukemia. This is a rare case of congenital leukemia with findings associated with poor prognosis.
Asunto(s)
Infiltración Leucémica , Leucemia-Linfoma Linfoblástico de Células Precursoras B/congénito , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patología , Piel/patología , Humanos , Recién Nacido , MasculinoRESUMEN
Acute lymphoblastic leukaemia (ALL) occurs at all ages but is the most common cancer of childhood. The current treatment of paediatric ALL is highly successful with up to 90% children being cured. In contrast, survival rates for adult ALL are significantly lower at around 40%. The discovery and characterisation of genetic abnormalities have increased our understanding of the biology of the disease and provided important prognostic and predictive markers which have improved patient outcome. Not only is the spectrum of these aberrations vast but, due to advances in technology, continually expanding. A wide range of chromosomal and genomic abnormalities have been reported as being associated with patient outcome but only a subset are currently used to risk stratify patients. This review highlights the main genetic abnormalities which are used to manage patients with B-cell precursor ALL and discusses the evidence which has been accumulated on several newly described genomic abnormalities.
