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

ABSTRACT

The Philadelphia chromosome is observed in 5 percent of pediatric acute lymphocytic leukemia (ALL) and in 25 percent to 50 percent 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 percent blasts, and a platelet count of 65 x 109/L. Bone marrow aspirate showed 92.6 percent 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 percent of interphase cells with two fusion signals, 30 percent with one, and 6 percent with three. Double Ph is rare in relapsed leukemia, and the possibility of secondary leukemia cannot be ruled out