. Author manuscript; available in PMC: 2014 Jun 11.

Published in final edited form as: J Genet Syndr Gene Ther. 2013 Sep 18;4(8):1000177. doi: 10.4172/2157-7412.1000177

Table 1. Morphology, immunophenotype and cytogenetic changes of ALL and subsequent MDS transforming into AML in the girl with Bloom syndrome.

	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]