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

• Published in: Genetics and molecular biology 2003, Vol.26 (3), p.249-251
• Main Authors: Campos, Mireille Guimarães Vaz de, Chauffaille, Maria de Lourdes L. Ferrari, Rodrigues, Celso Arrais, Krum, Everson A., Yamamoto, Mihoko
• Format: Article
• Language: English
• Subjects: BIOCHEMISTRY & MOLECULAR BIOLOGY; double Philadelphia chromosome; GENETICS & HEREDITY; relapsed acute lymphocytic leukemia
• ISSN: 1415-4757; 1678-4685; 1415-4757; 1678-4685
• DOI: 10.1590/S1415-47572003000300006

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 super(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.