ABSTRACT
Cytomorphology and IgH/T-cell receptor g clonal gene rearrangements detected by polymerase chain reaction (PCR) homo/heteroduplex analysis and direct sequencing were evaluated in cerebrospinal fluid (CSF) free of red-blood cells at diagnosis of 37 children with acute lymphoblastic leukemia. Molecular CSF involvement was greater as detected by molecular analysis than observed by morphologic criteria (45.9% vs 5.4%). The 4-year event-free survival was lower in the group with molecularly detected CSF involvement (p = 0.01).
Subject(s)
Precursor Cell Lymphoblastic Leukemia-Lymphoma/cerebrospinal fluid , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Adolescent , Child , Child, Preschool , DNA/cerebrospinal fluid , Disease-Free Survival , Humans , Immunophenotyping , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Time FactorsABSTRACT
The leptomeningeal involvement of central nervous system is defined in the most centers by the presence of blast cells in the CSF or the presence of cranial-nerve palsies. Sometimes, cytology does not allow clear distinction between lymphoblasts and normal cells, and auxiliary methods to the precise identification of leukemic cells in cerebrospinal fluid is necessary. We analyzed CSF from 11 consecutive patients, in whom a differential diagnosis of leptomeningeal involvement was made, including 4 patients at diagnosis and 7 patients during the treatment by cytomorphological analysis and PCR and automatic sequencing. Six patients were considered with leptomeningeal involvement by conventional analysis: unequivocal cytomorphological involvement was considered in 5 patients, and in one it was assumed to be due to cranial-nerve palsy, with no blast cells detected in cerebrospinal fluid. In 2 it was considered suspicious and in 3 negative. PCR and sequencing analysis showed involvement in 6 patients; 5 of the 6 patients were considered to have leptomeningeal involvement based on clinical and cytomorphological criteria, and, in one of the patients, it was suspicious. Our data suggest that the use of PCR and sequencing can be useful in confirming CNS leukemia and eliminating other conditions when used together with the cytomorphological analysis.
Subject(s)
Cerebrospinal Fluid/cytology , Cytodiagnosis/methods , Meningeal Neoplasms/cerebrospinal fluid , Meninges/pathology , Polymerase Chain Reaction/methods , Precursor Cell Lymphoblastic Leukemia-Lymphoma/cerebrospinal fluid , Bone Marrow Cells/chemistry , Bone Marrow Cells/pathology , Child , Clone Cells/pathology , DNA, Neoplasm/cerebrospinal fluid , Gene Rearrangement, delta-Chain T-Cell Antigen Receptor/genetics , Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor/genetics , Genes, T-Cell Receptor delta/genetics , Genes, T-Cell Receptor gamma/genetics , Humans , Immunoglobulin Heavy Chains/genetics , Meningeal Neoplasms/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology , Reproducibility of ResultsABSTRACT
Objetivo: Relatar a ocorrência de pancitopenia transitória, decorrente de infecção pelo parvovírus B19, em um paciente portador de anemia hemolíitica hereditária e comentar a importância do diagnóstico desta infecção. Métodos: Relato de caso clínico acompanhado pelos autores, diagnosticado sorologicamente e pelo método da reação em cadeia da polimerase (PCR), e revisão da literatura. Resultados: Menino de 12 anos, portador de esferocitose hereditária, apresentando quadro infeccioso inespecífico seguido de pancitopenia grave, transitória, com diagnóstico de infecção por parvovírus B19. Conclusões: O diagnóstico da infecção por parvovírus B19 é de particular importância em hematologia, principalmente quando estão presentes algumas condições mórbitas, entre elas as anemias hemolíticas hereditárias, sendo o método de PCR útil por permitir rapidez e boa sensibilidade no diagnóstico específico desta patologia
