RESUMO
Hypereosinophilia is a rare phenomenon associated with childhood malignancy, predominantly acute lymphoblastic leukaemia. Causation is unclear and likely to have multiple mechanisms. We report a six year old boy presenting with hypereosinophilia and associated Loeffler endocarditis. Three months following his initial hypereosinophilia he developed cutaneous B-lymphoblastic lymphoma. Re-analysis of apparently uninvolved bone marrow, taken at initial presentation, revealed a single, previously unidentified, t(5;14)(q31;q32) positive cell. Using fluorescent in situ hybridisation, we demonstrate IL3/IgH@ fusion in cutaneous lymphoma cells. Our case confirms the association of hypereosinophilia and B-lymphoblastic lymphoma and strengthens the association between IL3 hypersecretion and hypereosinophilia.
Assuntos
Endocardite/etiologia , Síndrome Hipereosinofílica/etiologia , Cadeias Pesadas de Imunoglobulinas/genética , Interleucina-3/genética , Linfoma de Células B/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Neoplasias Cutâneas/genética , Translocação Genética , Doença Aguda , Criança , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 5 , Humanos , Linfoma de Células B/complicações , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaçõesRESUMO
OBJECTIVE: Trisomy is the most common type of chromosome abnormality, affecting 4% of clinically recognised pregnancies, of which, trisomies 16, 21 and 22 are the most prevalent. It has been suggested that a large proportion of maternally derived trisomic pregnancies, specifically trisomy 21, are the result of low-level ovarian mosaicism. In this study, we aimed to reproduce these previously published results on trisomy 21 and investigate the other common maternally derived trisomies (i.e. trisomies 16 and 22) by determining chromosome copy number in fetal ovarian and control skin cells. METHODS: Ovarian and control skin tissue was collected from eight karyotypically normal female fetuses of between 10 and 14 weeks gestation, which were terminated for social reasons. Tissues were dissociated and fluorescence in situ hybridisation was performed with break-apart probes: CBFß (16q22), RUNX1 (21q22) and EWSR1 (22q12). RESULTS: A small number of trisomic cells, 13 out of 51,146 cells examined (0.025%), were identified in both ovarian and control skin samples. Only three of these trisomic cells were present in the fetal ovarian tissue. CONCLUSION: This study found no evidence of fetal ovarian mosaicism for trisomies 16, 21 and 22.
Assuntos
Síndrome de Down/genética , Mosaicismo , Ovário , Trissomia/genética , Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 22/genética , Sondas de DNA , Feminino , Feto , Humanos , Hibridização in Situ FluorescenteRESUMO
Using fluorescence in situ hybridization probes, obtained from bacterial artificial chromosome (BAC) libraries that relate to sequences either side of the BCR and ABL genes, this study characterized four chronic myeloid leukemia cases with cryptic BCR-ABL rearrangements. Each case showed evidence of a different underlying mechanism: one case showed a microinsertion of BCR into ABL, another a microinsertion of ABL into BCR, and the third showed a complex rearrangement including deletion of adjacent flanking sequences, consistent with the reverse translocation model of cryptic rearrangement. The fourth case also showed evidence of a more complex rearrangement involving chromosome 1.