A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?

The Philadelphia chromosome is observed in 5% of pediatric acute lymphocytic leukemia (ALL) and in 25% to 50% of adult ALL cases, and is associated with poor prognosis. Double Ph in a hyperdiploid karyotype is common in chronic myeloid leukemia (CML), but rarely found in ALL. We report here the case...

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Main Authors: Mireille Guimarães Vaz de Campos, Maria de Lourdes L. Ferrari Chauffaille, Celso Arrais Rodrigues, Everson A. Krum, Mihoko Yamamoto
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2003-01-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300006
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author Mireille Guimarães Vaz de Campos
Maria de Lourdes L. Ferrari Chauffaille
Celso Arrais Rodrigues
Everson A. Krum
Mihoko Yamamoto
author_facet Mireille Guimarães Vaz de Campos
Maria de Lourdes L. Ferrari Chauffaille
Celso Arrais Rodrigues
Everson A. Krum
Mihoko Yamamoto
author_sort Mireille Guimarães Vaz de Campos
collection DOAJ
description The Philadelphia chromosome is observed in 5% of pediatric acute lymphocytic leukemia (ALL) and in 25% to 50% of adult ALL cases, and is associated with poor prognosis. Double Ph in a hyperdiploid karyotype is common in chronic myeloid leukemia (CML), but rarely found in ALL. We report here the case of a girl diagnosed with ALL at 7 years of age. After treatment with the pediatric protocol BFM 83 for ALL, she stayed in continuous complete remission for nine years. At age 19, she was re-admitted with a white blood cell count of 6.8 x 10(9)/L with 3% blasts, and a platelet count of 65 x 109/L. Bone marrow aspirate showed 92.6% lymphoid blast cells, and chromosome analysis after G-banding revealed the karyotype 51,XX,+?5,t(9;22)(q34.1;q11.2),+16,+20,+21,+der(22)t(9;22)(q34.1;q11.2) [10]/46,XX[1]. FISH analysis for the BCR/ABL fusion showed 56% of interphase cells with two fusion signals, 30% with one, and 6% with three. Double Ph is rare in relapsed leukemia, and the possibility of secondary leukemia cannot be ruled out.
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spelling doaj.art-3871648837a44991832689d2ff7dae0a2022-12-22T01:59:47ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852003-01-0126324925110.1590/S1415-47572003000300006A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?Mireille Guimarães Vaz de CamposMaria de Lourdes L. Ferrari ChauffailleCelso Arrais RodriguesEverson A. KrumMihoko YamamotoThe Philadelphia chromosome is observed in 5% of pediatric acute lymphocytic leukemia (ALL) and in 25% to 50% of adult ALL cases, and is associated with poor prognosis. Double Ph in a hyperdiploid karyotype is common in chronic myeloid leukemia (CML), but rarely found in ALL. We report here the case of a girl diagnosed with ALL at 7 years of age. After treatment with the pediatric protocol BFM 83 for ALL, she stayed in continuous complete remission for nine years. At age 19, she was re-admitted with a white blood cell count of 6.8 x 10(9)/L with 3% blasts, and a platelet count of 65 x 109/L. Bone marrow aspirate showed 92.6% lymphoid blast cells, and chromosome analysis after G-banding revealed the karyotype 51,XX,+?5,t(9;22)(q34.1;q11.2),+16,+20,+21,+der(22)t(9;22)(q34.1;q11.2) [10]/46,XX[1]. FISH analysis for the BCR/ABL fusion showed 56% of interphase cells with two fusion signals, 30% with one, and 6% with three. Double Ph is rare in relapsed leukemia, and the possibility of secondary leukemia cannot be ruled out.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300006relapsed acute lymphocytic leukemiadouble Philadelphia chromosome
spellingShingle Mireille Guimarães Vaz de Campos
Maria de Lourdes L. Ferrari Chauffaille
Celso Arrais Rodrigues
Everson A. Krum
Mihoko Yamamoto
A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?
Genetics and Molecular Biology
relapsed acute lymphocytic leukemia
double Philadelphia chromosome
title A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?
title_full A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?
title_fullStr A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?
title_full_unstemmed A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?
title_short A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia?
title_sort rare case of acute lymphocytic leukemia all presenting with double philadelphia chromosome relapse or secondary leukemia
topic relapsed acute lymphocytic leukemia
double Philadelphia chromosome
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300006
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