Salvage Cord Blood Transplantation for Sustained Remission of Acute Megakaryoblastic Leukemia That Relapsed Early after Myeloablative Transplantation

Abstract

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia accompanied by an aggressive clinical course and dismal prognosis. We herein report a case of AMKL preceded by mediastinal germ cell tumor that relapsed early after allogeneic hematopoietic stem cell transplantation with myeloablative conditioning but was successfully treated using salvage cord blood transplantation (CBT) with reduced-intensity conditioning. Although several serious complications developed, sustained remission with a favorable general condition was ultimately achieved. Although an optimal therapeutic strategy remains to be established, the graft-versus-leukemia effect of CBT may be promising, even for the treatment of refractory AMKL.

Concurrent primary mediastinal germ cell tumor and acute myeloid leukemia: Case report of sustained remission and review of the literature

“…15,16 Both AFP and beta-hCG normalized fol- A literature search identified 14 case reports of PMGCT and AML with available cytogenetic analyses (Table 1). 9,[17][18][19][20][21][22][23][24][25][26][27][28][29] Of the cases, five were concurrently diagnosed, defined as simultaneous presentation or within 2 weeks of initial diagnosis. Two cases achieved sustained remission, and one case is receiving ongoing therapy.…”

“…Given his persistent thrombocytopenia, he underwent a bone marrow biopsy (BMB), which was diagnostic of M7 AML with RAM phenotype. Cytogenetic evaluation of his bone marrow revealed a complex karyotype with 18/20 metaphase cells with near-tetraploidy, relative gain of chromosomes 1,6,7,14,19,21,22, and relative loss of chromosomes X, Y, 2, 3, 9, 11, 12, and 13. Tumor sequencing revealed TP53 homozygous deletion and polyploidy/hyperdiploidy, identified by using paired tumor/normal whole-exome sequencing and tumor transcriptome sequencing, a technique previously described.…”