Gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in children with SET-NUP214 fusion gene-positive leukemia/lymphoma / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1362-1367, 2011.
Article
em Zh
| WPRIM
| ID: wpr-261867
Biblioteca responsável:
WPRO
ABSTRACT
The purpose of this study was to analyze the gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in three children with SET-NUP214 fusion gene positive leukemia/lymphoma. The transcript of SET-NUP214 fusion gene was detected by RT-nested PCR. The pattern of Ig/TR gene rearrangement was analyzed by using the BIOMED-2 multiplex PCR assays. Allelic-specific primers were designed for further monitoring the minimal residual disease (MRD). The results indicated that the fusion site located between exon 7 of SET and exon 18 of NUP214 at mRNA level in the three patients. The diagnoses were made as the mixed phenotype of acute leukemia (MPAL) for patients 1, acute T-lymphoblastic leukemia (T-ALL) for patients 2, and stage IV T-lymphoblastic lymphoma (T-LBL) for patients 3, respectively. Patient 1 responded to chemotherapy very poorly and relapsed at month 6 after hematopoietic stem cell transplantation. Patient 2 had high MRD (> 10(-2)) at the end of inducing remission therapy (day 33) which implied poor outcome, and died of toxic epidermal necrolysis and sequent serious infection. Patient 3 achieved hematological complete remission (CR) and MRD negative at day 15 and day 33 respectively. The duration of CR lasted for 30 months. Clonal TR gene rearrangements were detected in all the three patients. The rearrangements of TRD, TRG and TRB were found in patient 1 and 3. The rearrangements of TRD, TRB, IgH and IgK Kde were detected in patient 2. All the 6 TRB rearrangements detected were incomplete rearrangements, whereas 85.7% and 14.3% of the TRD, and TRG rearrangements were complete and incomplete, respectively. It is concluded that the transformation of SET-NUP214(+) leukemia/lymphoma cells may occur after the rearrangements of TRD and TRG and shortly after TRB rearrangement. The leukemia/lymphoma cells of patient 1 and 2 are more immature which may be related with poor outcome or response to chemotherapy.
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Índice:
WPRIM
Assunto principal:
Fatores de Transcrição
/
Imunoglobulinas
/
Rearranjo Gênico do Linfócito T
/
Proteínas de Fusão Oncogênica
/
Neoplasia Residual
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Complexo de Proteínas Formadoras de Poros Nucleares
/
Diagnóstico
/
Fusão Gênica
/
Leucemia-Linfoma Linfoblástico de Células T Precursoras
/
Chaperonas de Histonas
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Journal of Experimental Hematology
Ano de publicação:
2011
Tipo de documento:
Article