PMC5679186_01
Radiological, cytological, histological, immunophenotypic, and cytogenetic findings of AL-HGBL. a F-18-fluorodeoxyglucose (FDG) positron emission tomography detected the strong accumulation of FDG in the liver, spleen, and whole-body bone areas. b Bone marrow preparations stained with Wright-Giemsa (WG) and hematoxylin-eosin (HE) detected sheets of blastoid cells with fine chromatin and only a few vacuoles. Leukemic cells were strongly positive for CD20, CD10, and BCL2, and weakly positive for BCL6. c The karyotype of bone marrow cells was examined using G-banding. Red arrowheads indicate the derivative chromosomes. d The FISH analysis of interphase cells confirmed that t(14;18)(q32;q21) resulted in fusion between IGH (green) and BCL2 (red) and also that one MYC split signal (red) was located beside the two amplified MYC genes. In addition, the FISH analysis of metaphase cells indicated the amplification of MYC (red) at 8q24 in derivative chromosome 8 and did not fuse to IGH (green). White arrows indicate these aberrations. e SKY revealed that 8q24 and 19q13.1 were translocated to chromosomes 2 and 11, respectively. In addition, the loss of chromosome 17p was confirmed because derivative chromosome 22 contained chromosome 17q. White arrows indicate the derivative chromosomes and marker chromosomes detected by G-banding
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Fig1
F-18-fluorodeoxyglucose (FDG) positron emission tomography (PET) detected the relatively strong accumulation of FDG in the liver, spleen, vertebrae, and bilateral clavicles, humeri, ilia, and femora (maximum standardized uptake value (SUVmax) 4.8~13.0) (Fig. 1a). A BM examination revealed that more than 90% of nuclear cells were medium-sized blastoid cells with fine chromatin (Fig. 1b). The BM was massively infiltrated by medium-sized blastoid cells with fine chromatin and inconspicuous nucleoli (Fig. 1b). The blasts were strongly positive for CD20, CD10, BCL2, and the MYC protein and weakly positive for BCL6, indicating a GC B-cell phenotype (Fig. 1b). The MIB-1 index was unexpectedly low, at approximately 60% (Fig. 1b). A G-banding analysis of BM specimens detected a complex karyotype including t(14;18)(q32;q21) and add(8)(q24) (Fig. 1c). The karyotype was 46,X,-X,-2,-4,+7,-8,add(8)(q24),inv(9)(p12q13),-13,t(14;18)(q32;q21),-17,add(19)(q13.1),-22,+mar1,+mar2,+mar3,+mar4,+mar5,+mar6 [18] (Fig. 1c). FISH analysis of interphase and metaphase cells confirmed the fusion between IGH and BCL2 and the split and extra copies of MYC at 8q24 (Fig. 1d). Furthermore, SKY identified that 8q24 and 19q13.1 were translocated to chromosomes 2 and 11, respectively. G-banding and SKY confirmed the loss of chromosome 17p (Fig. 1c, e).