Case Report

Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia

Table 1


CaseAge/sexWBCHemoglobin
(g/dL)
Platelets
(K/uL)
AMC(uL)Bone marrow blast (%)WHOCytogeneticTreatmentOutcome±Time to AML(months)Ref.

149/F6.58.24255850MDS46,XX,t(9;22)(q34;q11)BSCAML32[2]
270/F6.49.5316384NAMDS46,XX/46,XX,t(9q;22q)
NAAlive at 45 m[3]
374/M
(Case)
5.38.334110800RCMD+44, XY, t (9:22) , 46,XY
TKI(alive)
7 months after diagnosis
459/M1.39.278780MDS46,XY,t(9;22)(q34;q11)TKI+ + allo- stem cell transplant(alive)4[4]
566/F0.94.452542RCUD+++46,XX,+8,t(9;
22;16)(q34;q11.2;q23)/4
6,XX,idem,der(12)t(12;17)
(p11.2;q11.2)/46, XX .
Melphalan(died)
Developed skin Granulocytic sarcoma.
9[4]
667/M2.710.452814RCMD45, XY,+3,-5,-7,-7,-
20,+mar,+mar/45,XY,+3,-
4,-8,-9,-11,-18,-20,-21,-
21,+mar,+mar,+mar,+mar,
+mar,+breaks.
FISH t(9;22)
TKI(died)
1 year after diagnosis developed Fungal Pneumonia
[5]
762/M1.811.93NA5RAEB-145,XY,-5,-7,+8, - 12, - 16,-
22, + marE[?del(11)(q11)],
+ marC[?der(11)t(?;11;22)],
+ del(22)(q11)
BSC(died)2[6]
867/F3.411.5111NA10RAEB-246 XX, t(9;22)TKI(alive)7[7]
969/M5.38.17710614RAEB-245,XY,-5,-7,+8, - 12, - 16,-
22, + marE[?del(11)(q11)],
+ marC[?der(11)t(?;11;22)],
+ del(22)(q11)
AraC+Mitho-xanthrone+
Tenoposide
(died)
Septicemia 5 months after diagnosis.
[8]
1064/M6.97.8986916RAEB-246,XY/47,XY,
+8,t(9;22)(q34;q11)
Hydroxyurea(died)9[8]

WBC = white blood cell count; AMC = absolute monocyte count; WHO = World Health Organization; ±outcome reported at the time of publication; AML acute myelogenous leukemia; BSC = best supportive care; ++TKI = tyrosine kinase inhibitor; patient was diagnosed in April 2001. He received Imatinib for 2 months until August 2001. Given AML transformation, BMT was performed and remained alive by the time of publication in June 2003; +RCMD = refractory cytopenia multilineage dysplasia; +++RCUD = refractory cytopenia multilineage dysplasia; RAEB = refractory anemia excess of blast.