Case Reports t514q31q32GallegoID100055

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(Paper co-edited with the European LeukemiaNet)
A new case of t(5;14)(q31;q32) in a pediatric acute lymphoblastic leukemia presenting with hypereosinophilia
Written2011-09Marta Gallego, Mariela Coccé, María Felice, Jorge Rossi, Silvia Eandi, Gabriela Sciuccati, Cristina Alonso
Laboratorio de Citogenetica - Servicio de Genetica - Servicio de Inmunologia y Reumatologia - Servicio de Hemato-Oncologia, Hospital de Pediatria "Prof. Dr. J. P. Garrahan", Buenos Aires, Argentina
Age and sex : 11 year(s) old male patient.
Previous History : preleukemia (The patient presented with a chronic eosinophilic leukemia 3 months before developing ALL.)
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly (4 cm from below costal rib); splenomegaly (3 cm from below costal rib); no enlarged lymph nodes ; no central nervous system involvement
WBC : 48 x 109/L (with 62% of eosinophils); Hb : 7.0 g/dL ; platelets : 79 x 109/L; blasts : 15 % .
Bone marrow : Normal cellularity was replaced by 60% of lymphoblasts FAB L1 morphology
Cyto pathology classification
Immunophenotype : Pre-B ALL (EGIL classification B III). The blasts expressed CD45, CD19, CD10, CD34, HLA-DR, cCD79a, cCD22, Tdt and cytoplasmic micro chain, partial CD20 and CD33 and were negative for CD2, CD7, CD13, CD15, CD117 and CD3.
Precise diagnosis : Acute lymphoblastic leukemia following a chronic eosinophilic leukemia.
Date of diagnosis: 03-2008
Treatment : Chemotherapy for ALL (12-ALLIC 02 protocol)
Complete remission was obtained
Treatment related death : -
Relapse : +
Phenotype at relapse : During continuation phase hypereosinophilia was observed in peripheral blood, but low percentage of lymphoblasts was detected during 2-3 weeks before relapse. After this finding, the patient presented CNS infiltration by eosinophils (70% of WBC detected in CSF). He presented a bone marrow infiltration by dysplastic eosinophils and less than 5% of lymphoblasts after 18 months from achieving CR and a hematological relapse was diagnosed.
Status : Dead 06-2010
Survival : 21 month(s)
Sample : Bone marrow ; culture time : 24 h ; banding : G banding
Results : Karyotype at time of diagnosis of ALL: 46,XY,t(5;14)(q31;q32)[4]/46,XY[12]
Karyotype at relapse : 46,XY,t(3;8)(p21;q24),t(5;14)(q31;q32)[2]/46,XY[18]
Other molecular studies
technics : RT-PCR non evaluable, due to control gene non amplifiable.
Partial GTG banded karyotype showing t(5;14)(q31;q32).
To our knowledge nine cases (8M/1F) of ALL with eosinophilia and t(5;14)(q31;q32) have been reported in the literature. Five of them were described in childhood ALL. The prognosis of t(5;14)(q31;q32) seems to be very poor. Our patient relapsed and died 21 months after diagnoses.
Internal links
Atlas Cardt(5;14)(q31;q32)
Hypereosinophilic syndrome in acute lymphoblastic leukemia with a chromosome translocation [t(5q;14q)].
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PMID 6583469
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PMID 3479532
Calla-positive acute leukaemia with t(5q;14q) translocation and hypereosinophilia--a unique entity?
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PMID 2508400
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PMID 2499362
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PMID 2374508
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Blood. 1990 Jul 15;76(2):285-9.
PMID 2114933
Non-random involvement of chromosome 5 in ALL.
Chen Z, Morgan R, Sandberg AA.
Cancer Genet Cytogenet. 1992 Jul 1;61(1):106-7.
PMID 1638475
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PMID 1564954
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PMID 18271061

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