RESUMO
Acute myeloid leukemia is classified based upon recurrent cytogenetic abnormalities. The t(15;17)(q24.1;q21.1) abnormality is found in 5% to 8% of de novo acute myeloid leukemia and is diagnostic of acute promyelocytic leukemia (APL). The translocation results in fusion of the retinoic acid receptor-α (RARA) gene at 17q21.1 and the promyelocytic leukemia (PML) gene at 15q24.1. Standard APL therapy is a combination of all-trans retinoic acid and anthracycline-based chemotherapy. Anthracycline treatment is associated with secondary clonal chromosomal aberrations that can lead to therapy-related secondary myeloid neoplasms. We present a pediatric case of relapsed APL coexistent with treatment-associated secondary myeloid neoplasm with t(11;19)(q23;p13.1).
Assuntos
Antraciclinas/efeitos adversos , Aberrações Cromossômicas , Leucemia Mieloide Aguda/induzido quimicamente , Leucemia Promielocítica Aguda/tratamento farmacológico , Segunda Neoplasia Primária/genética , Tretinoína/administração & dosagem , Antineoplásicos/administração & dosagem , Criança , Cromossomos Humanos Par 15 , Cromossomos Humanos Par 19 , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Promielocítica Aguda/genética , Masculino , Proteínas Nucleares/genética , Proteína da Leucemia Promielocítica , Receptores do Ácido Retinoico/genética , Recidiva , Receptor alfa de Ácido Retinoico , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genéticaRESUMO
Chronic myelogenous leukemia (CML) is very rare in the pediatric population. We report the case of a 2-year-old female with CML and concurrent myelodysplastic syndrome (MDS) associated cytogenetic abnormalities. The co-existence of t(9;22) and chromosomal deletions that are associated with MDS poses a unique diagnostic challenge. Given the reported association of t(9;22) and genomic instability, we hypothesize that the chromosomal deletions represent clonal evolution of the CML.
Assuntos
Aberrações Cromossômicas , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Síndromes Mielodisplásicas/genética , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva/fisiopatologiaRESUMO
FMS-like tyrosine kinase 3 (FLT3) mutation in T lymphoblastic leukemia/lymphoma (T-LL) is rare (â¼4%) and reported only in cases with CD117 expression. This study aimed to identify the immunophenotypic features that may predict FLT3 mutations. We report 3 (43%) of 7 CD117(+) T-LL cases harboring FLT3-internal tandem duplication mutation. Compared with 4 FLT3-unmutated cases, all 3 FLT3-mutated cases had a distinct immunophenotype (CD1a(-)/CD2(+)/CD7(+)/CD34(+)/CD117(uniform+)/Tdt(+)) corresponding to the stage of earliest thymic T-cell progenitors possessing myeloid lineage potential. Indeed, all FLT3-mutated T-LL cases expressed myeloperoxidase on a very small subset of blasts and, thus, may be further considered a mixed phenotype acute leukemia, T/myeloid, by the 2008 World Health Organization classification scheme. We conclude that this unique immunophenotype (CD1a(-)/CD2(+)/CD7(+)/CD34(+)/CD117(+)/Tdt(+)) is a better predictor of FLT3 mutation than sole CD117 expression.
Assuntos
Mutação , Leucemia-Linfoma Linfoblástico de Células T Precursoras/genética , Tirosina Quinase 3 Semelhante a fms/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Leucemia-Linfoma Linfoblástico de Células T Precursoras/classificação , Leucemia-Linfoma Linfoblástico de Células T Precursoras/imunologia , Linfócitos T/imunologiaRESUMO
Carotid artery-cavernous sinus fistulas (CCFs) are infrequently reported in the pediatric population, and are rarely reported in conjunction with CNS neoplasms. The authors present a 7-year-old girl with CNS choriocarcinoma who acutely developed left eye proptosis and conjunctival injection. Computed tomography angiography revealed a CCF, which was endovascularly embolized with detachable coils. There may be a direct cause-and-effect relationship between choriocarcinoma and development of CCFs.
