BM Morphology Immunophenotype Cytogenetics
  ALL 95% primitive mononuclear cells with lymphoblast morphology DR+/TdT+/CD10++/CD38+ and cmu+CD34/CD45 neg/weak 46,XX. Non-clonal structural abnormalities noted. FISH for BCR/ ABL, MLL, TEL/AML1 and IGH neg.
MDS/AML Trilineage dysplasia.  About 20% blasts. CD34+ CD7 weak/CD13 +/CD33+/CD117 +/CD36+TdT-/MPO-, CD41- 41~43,X,add(X)(q2),add(1)(p21),add(1)(q1)x2,,add(1)(p1)x2,add (3)(p21),-4,-5,-6,-6,add(7)(p13),add(9)(p13), add(9)(p13),+add (11)(p1),add(12)(p13),-13,-14,-15,-17,add(19)(p13) -21,+4~8. mar[cp7]/46,XX[1]
Table 1: Morphology, immunophenotype and cytogenetic changes of ALL and subsequent MDS transforming into AML in the girl with Bloom syndrome.