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Table 2 Early Relapse Cases

From: Impending relapse of myelodysplastic syndrome after allogeneic transplant is difficult to diagnose and requires a multi-modal approach

Study No Age at transplant/IPSS score Original MDS Diagnosis Pre-transplant MDS Diagnosis Immediate pre-transplant Marrow Biopsy (following cytoreductive therapy) Post-transplant Assessment 1 Post-transplant Assessment 2 Post-transplant Assessment 3 Post-transplant Assessment 4 Follow-up Cytogenetics Comparison
   Diagnosis/CG Diagnosis/CG Diagnosis/CG Morphologic Conclusion/Engraftmenta/CG Morphologic Conclusion/Engraftmenta/CG Morphologic Conclusion/Engraftmenta/CG Morphologic Conclusion/Engraftmenta/CG Status/Relapse Treatment  
7 61/INT-1 RARS /46,XX,del(12)(p11.2p13) [7]/46,XX [13] RARS/46,XX,del(12)(p11.2p13) [3]/46,XX [17] No intervening marrows pre-transplant Indeterminate /6 /Neg by FISH MDS with dyerythropoiesis and numerous ring sideroblasts, no increase in blasts c /88 /46,XX[49]//46,XY[1]    Deceased of invasive aspergillus lung infection with persistent MDS/ reduction in immunosuppression then DLI for subsequent RAEB-1 Some similarities between clones
Daysb   −699 −15   23 100    237/137 (post-relapse)  
27 69/Unknown RCMD-RS RCMD-RS/45,XY,-7,del(20q)(q11.2q13.1) [3] No intervening marrows pre-transplant Indeterminate /30.6 / monosomy 7 by FISH (8% interphase cells) Negative /0 /monosomy 7 by FISH (2.75%, slightly above normal control range) Negative /0 /not performed MDS with dysmegakaryopoiesis, numerous ring sideroblasts, no increase in blasts /12.6 /45,XY,-7,del(20q)(q11.2q13.3)[3]/46,XY[12] Unknown/ Unknown Same abnormal clone
Days   −111 −31   22 60 98 155   
32 62/INT-1 RAEB-1 RAEB-2/clone with trisomy 8 Hypercellular marrow withno increase in blasts; 3.25% by FISH with extra chromosome 8 Indeterminate /6.1 /Neg by FISH Indeterminate /11.8 /Neg by FISH and karyotype AML /41.8 /46,XX,t(2;3)(q23;q26–27)[4]/46,XX[14]   Unknown/ Unknown Different abnormal clone
Days   −376 −141 −29 33 63 98    
34 49/HIGH RAEB-1 /complex karyotype including deletion of 5q Same specimen as original MDS diagnosis Normocellular marrow with no increase in blasts/cytogenetics not performed Negative /57.4 /Neg by FISH Negative /29.6 /loss of chromosome 5 by FISH (6.75% interphase cells) and complex karyotype MDS with dysgranulopoiesis, borderline increased marrow blasts, and rare circulating blasts / 20.3/FISH: 19.5% had a signal pattern indicative of loss of both 5p15.2 and q31   Unknown/ Unknown Some similarities between clones
Days   −200   −25 21 36 65    
58 67/LOW MDS with isolated del(5q) /46,XY,del(5)(q13q33) [18]/46,XY [2] RAEB-2/46,XY,del(5)(q22q33) [18]/46,XY [2] No intervening marrows pre-transplant Indeterminate /0 /Neg by FISH Indeterminate /3 /Neg by FISH RAEB-1 /38 /46,XY,del(5)(q22q35)[11*]/46,XY[7]/46,XX[2]   Unknown/ Unknown Same abnormal clone
Days   −458 −25   21 98 137    
63 68/INT-2 RCMD-RS /45~46,XY,add(4)(q31),del(5)(q15q33),del(7)(q22q34),+8,del(11)(q14q23),add(12)(p11.2),dic(14;15)P(11.2;p11.2),add(17)(p11.2),-18,01mar[cp18]/46,XY [2] RAEB-2/44–46,XY,-3,del(4)(q31q35),del(5)(q15q33),del(7)(q22q36),+8,del(11)(q21q23),add(12)(p11.2),dic(14;15)(p11.2;p11.2),-17,-18,+2mar[cp5] Normocellular marrow with no increase in blasts/ Negative by FISH Negative /2.9 /Neg by FISH RAEB-2 /91.8 /FISH: 83% had a signal pattern consistent with deletion of the long arm of one chromosome 5    Unknown/ azacitidine Some similarities between clones
Days   −298 −126 −15 21 90    129/39 (post-relapse)  
78 69/LOW RARS-T /46,XY,dup(1)(q21q43) [14]/46,XY,der(15)t(1;15)(q12;p11.2) [3]/46,XY [3] Same specimen as original MDS diagnosis d No intervening marrows pre-transplant Indeterminate/0 /Neg by FISH Negative/7 /Neg by FISH Abnormal with 5% ring sideroblasts /14 /46,XY,dup(1)(q21q43)[2]/46,XY,der(15)t(1;15)(q12;p11.2)[1*]/46,XY[17]   Deceased with steroid refractory late acute GVHD/No intervention Same abnormal clone
Days   −21    23 100 174   232/58 (post-relapse)  
79 70/INT-2 RAEB-1 /43–44, XX, −5, −7, −19, −22, +12mar [3]/4245, sl, −18, +14[11]/46,XX [6] Same specimen as original MDS diagnosis Persistent MDS with 3% marrow blasts/44,XX,-5,-7,-18,-19,-22,+3mar [2]/46,XX [19] Negative/ not performed /Neg by FISH Suspicious for myeloid neoplasm with slight trilineage dyspoiesis and 4% to 5% blasts /23 /44,XX,-5,-7,-19,-22,+mar1,+mar2[3]/43,idem,-18[2]//46,XY[15]    Alive currently undergoing treatment for relapse (as AML) that occurred 2 years after DLI/ immunosuppression withdrawal Same abnormal clone
Days   −70   −28 20 90    625/535 (post-relapse)  
81 71/INT-1 RAEB-1 RAEB-1/Normal karyotype No evidence of residual disease/cytogenetics not performed Negativee /38 /normal karyotype RAEB-1 / 26/46,XX[19]    Deceased with persistent disease/withdrawal of immunosuppression then ALT-803 trial No clonal abnormality pre-transplant disease and relapse
Days   −735 −165 −38 21 98    465/367 (post-relapse)  
82f 34/INT-1 RCMD /46,XY,add(6)(?p21.2) [18]/46,XY [2] RAEB-1/46,XY,add(6)(p21.1) [20] No intervening marrows pre-transplant Indeterminate/0 /normal karyotype Indeterminate /0 /normal karyotype Indeterminate /1 /not performed AML /66 /46,XY,add(6)(p21.1)[4]/46,idem,t(9;14)(q34;q24)[14]/46,X,t(Y;1)(p11.3;q21),del(4)(q11), der(13)t(4;13)(q11;p13),add(6)[2] Deceased with persistent disease/ 7 + 3 induction, ALT-803, GCLACchemotherapy, azacitidine, DLI Clonal evolution
Days   −230 −35   21 62 99 139 374/235 (post-relapse)  
  1. RELAPSE MARROWS in BOLD
  2. Abbreviations: IPSS International prognostic scoring system, MDS myelodysplastic syndrome, CG cytogenetics, INT-1 Intermediate-1, INT-2 Intermediate-2, RARS Refractory anemia with ring sideroblasts, RCMD refractory cytopenias with multilineage dysplasia, RCMD-RS refractory cytopenias with multilineage dysplasia and ring sideroblasts, RAEB refractory anemia with excess blasts, AML acute myeloid leukemia, FISH fluorescence in-situ hybridization, DLI donor lymphocyte infusion, GCLAC G-CSF priming, clorarabine, and high dose cytarabine, ALT-803 trial IL-15 Superagonist Clinical Trial, GVHD graft versus host disease
  3. aEngraftment is reported as % recipient
  4. bDays are relative to transplant date unless otherwise noted
  5. cBone marrow biopsy 2 months after showed RAEB-1
  6. dPatient carries diagnosis of RARS-T since 2007, reason for transplant is clonal progression and development of transfusion requirements
  7. eCase 81 was called positive on study review due to increased blasts
  8. f Received myeloablative chemotherapy pre-transplant