Case Report

Philadelphia Translocation in MDS: A Case Report and a Brief Review of the Literature Looking at Its Prevalence, Disease Progression, and Treatment Options

Table 2

Blast count and number of events.

AgeGenderClassificationCytogeneticsBm blast%Plt/mcLHgb g/dLTime to progressionTreatmentOutcomeReference

74MRCMD44, XY, t(9 : 22) [4], 46,XY[16]- 46%03418.3No progressionDasatinibHospice after 7m following sepsis[9]
55FRAEB I45XX,−4,t(9; 22)(q34; q11.2)61010.3No progressionSupportive careDied in 1 month sepsis[10]
31MRAEB II44–45XY,der(4),−5,der(7),−7,−8,t(9; 22)(q34; q11.2),−15,+2214544.7No progressionSupportiveDied in 1 week - IC bleed?[10]
65MRAEB 244xy del 5,-7,-14,-16 + mar18n/an/aNo progressionNoneDied in 1 m from lung cancer[11]
67MRAEB1-> RAEB 245,XY,+3,−5,−7,−20,+mar,+mar/45,XY,45210.4No progressionImatinib for 2 weeks f/b supportive careDied 1 yr from fungal pneumonia[12]
+3,−4,−8,−9,−11,−18,−20,−21,−21,+mar,+mar
61MMDS unclassifiable46,XY,der(5; 12)(q10; q10)+mar[3]/46,XY[12] t(9; 22)by FISH in der(5; 12)n/an/an/an/aImatinib, hydroxyurea, cytarabineDied in 5m from resp failure[13]
71MRAEB46XX,der(12)t(12; 17)(p11.2; q11.2)[7]/46, XX[9]10549To RAEBt in 5 mHydroxyureaDied in 4 m from pneumonia[14]
66FRAEB47,XX,+8, t(9; 22; 16)(q34; q11.2,q23)[4]22757.5Progressed to granulocytic sarcoma of skin in 9 mSupportive careDied 1 m later[14]
59MRAEB46,XY,t(9; 22)(q34; q11)4789.24 m to AMLImatinibAlive after HCT[14]
67FRAEB 246,XX[1]/46,XX,t(9; 22)(q34; q11)[29]1011411.5NAConventional chemotherapy with rising blast % responded to imatinib.Alive at 14 m after imatinib[15]
73MRAEB46 XT t(9 : 22),8n/an/aCML in 2.5 yr f/b blast crisis in 3 mImatinibDied with refractory CML and pneumonia[16]
78MRAEB t46,XY der (3), t(1 : 3)(p22:p14), t(9; 22)22.2299.8n/aAra-C+daunorubicin->AraC+IDarubicinDied from pneumonia 5 m after Dx[17]
69MRAEBt+Y, del5,q13q34,+8,+13,+14, p11+22, t922q3414468.12 m to AMLVindesine f/b cytosine arabinoside, mitoxantrone, tenoposideDied from pneumonia 5 m after Dx[18]
64MRAEB+8, t(9 : 22)(q34)- 46%4987.89 M to AMLHydroxyurea f/b cyt ara-c, teniposideDied from sepsis 9 m after Dx[18]
30MMDS46,XY[1]/46,XY,t(9; 22)(q34; q11)[45]0.53012.5No progressionn/aDied 2 years after due to intracranial bleeding[19]
78FRAEB 246 XX, t(9; 22)(q 34; q 11)11.72185 m to AMLTransfusion, ubenimexDied from pneumonia[20]
73MMDS46,XY[54]/46,XY,t(4; 6)(p15; p12),t(9; 22) (q34; q11)[6]112015.47 m to CMMLSupportive careDied from bleeding 10 m after dx[21]
85MRAEB46,XY,t(9; 22)(q34; q11)251209.817 m to AMLDaunorubicine, cytarabine, 6-mercaptopurine. Prednisone f/b 6-mercaptopurine, hydroxyurea.Died 21 m later[22]
62MMDS46,XY[?]/t(?; 11; 22)(?; q11; q11),t(9; 22)(q34; q11), −5,−7,+8,−128.2311.93 m to RAEBtPrednisolone and vit D3Died 3 m later from pneumonia, bleeding[23]
70FMRARS46,XX[3]/46,XX,t(9q; 22q)[12]n/a3169.5No progressionPyridoxine, nandrelone, folinic acidAlive at 45 months[24]
49FMDS46 XX (3) t(9 : 22) 34 : 11n/a4258.232M TO AMLAra-C, 6-thioguainine, daunomycinDied from pneumonia 1 m after AML[25]
78FMDS-RARS46,XX--> 46,XX,t(9; 22)(q34; q11)1415210.226 m to CML blast crisisImatinib and nilotinibHematologic response on TKI[26]
83MMDS-RCMD46 XY--> 46,XY,t(9; 22)(q34; q11.2)[10]/46,XY[5]<19011.6No progressionImatinib-->dasatinib->nilotinibAlive after 30 monthsCase

M = male, F = female, RCMD = refractory cytopenia with multilineage dysplasia, RAEB = refractory anemia with excess blasts, RARS: refractory anemia with ringed sideroblasts, CML= chronic myeloid leukemia, CMML= chronic myelomonocytic leukemia, BM blast = bone marrow blast %, and Plt = Platelet.