We have an interesting case for which and opinion is needed.
Patient diagnosed as CML in 1998 : age of 10 years . Started on Hydroxyurea . Received from 1998 to 2001.
August 2001 Accelerated Phase and was started on Imatinib.
Allogenic BMT (with sister as donor - MRD, Bu + Cy conditioning)
Post-BMT:
1. Day+33 Chimerism studies showed mixed chimera (80% donor, 20% recipient Ph+ve cells) .
2. day+73, he developed pain left ankle, MRI showed joint effusion - given Local RT for pain relief >> resolved
3. Day+144, skin GHVD: treated >> responded
4. Day+160 BM studies showed 35% bcr-abl fusion.
5. Day+263 BM showed 74% bcr abl fusion . started on T. Imatinib (DLI was not feasible due to young donor age)
Chimerism analysis (2006): 100% donor cells.
Imatinib was stopped in 2006 and was on 3 monthly molecular monitoring.
RQ-PCR done in April, 2009 : Negative
April 2012: : RQ -PCR for bcr abl of 8.86% s/o relapsed CML.
Restarted on Imatinib in 2012.
Maintaining MMR with yearly RQ-PCR monitoring.
April 2018: patient asymptomatic, counts normal. RQ-PCR 22.29% : relapse. He is 29 years of age
No imatinib mutation found
CBC: Hb-8.7, TLC-106800,Plt-35000, uric acid-12.7
BM: 18% blasts,
IPT : 13% myeloid blasts s/o AP
Started on hydroxyurea + dasatinib >> hydroxyurea stopped. dasatinib continued
June 28, 2018: chicken pox with pancytopenia . Treated conservatively >> responded
BMA/Biopsy (Jun 30 2018): CML, with < 5% blasts
Chimerism (STR, Jul 2018): Donor 76%, Recipient: 24%
Chimerism (FISH, Jun 30, 2018)): XX:72%, XO:28% ( loss of Y)
Karyotype (Jun 2018): 47,XY,del(Y)(q11.22), t(9;22)(q34;q11.2), +der(22)t(9;22)[2] / 48,XY,del(Y) (q11.22),t(9;22),+2mar[1]/ 46,XX[13]. S/O CLONAL EVOLUTION
Case summary:
CML at age of 10 years. did well on allo SCT which was done for AP
TFR x 6 years , Molecular relapse >> did well again on imatinib for 6 years>> progressed into AP
Treatment options:
1.Continue dasatinib alone
2.DLI with same sister donor ( as still he has 76% donor cells in BM and CML is the disease which responds well to DLI.)
3.Second full transplant with same sister donor ( no other sibling)
4.Haplo SCT with one of the parents : considering that the sister cells have sat in his BM for 16 years and adding some more sister DLI cells may not cause any benefit
5.MUD transplant : totally new immune system