PMC3111038_01
Morphologic findings of B-ALL in the bone marrow. (A) Bone marrow aspirate smear shows moderate- to large-sized blasts with cytoplasmic vacuolation (Wright-Giemsa stain, x1,000). (B) Bone marrow biopsy shows almost complete replacement of hypercellular marrow by blasts (hematoxylin and eosin stain, x100).
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F1
Bone marrow examination showed hypercellular marrow with increased blasts, accounting for up to 95% of all bone marrow nucleated cells (Fig. 1).
G-banding of a bone marrow cell showing a 47,XX,+X,t(11;19)(q23;p13.3)[4]/46,XX[16] karyotype.
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F2
Cytogenetic analysis of the bone marrow aspirates by using the G-banding revealed the karyotype 47,XX,+X,t(11;19)(q23;p13.3)[4]/46,XX[16] (Fig. 2).
Interphase FISH using the LSI MLL dual color, break apart rearrangement probe (Abbott) set. Interphase nucleus harboring the MLL translocation, 1 fusion signal, and 2 separate signals (1F1O1G).
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F3
FISH performed using LSI MLL dual color, break apart rearrangement probes (Abbott Molecular, Des Plaines, IL, USA) showed an MLL break apart signal in 76.2% of the 500 analyzed cells (Fig. 3).
MLL1/ENL fusion transcript identified by multiplex reverse transcription-PCR. (A) Amplification products of 8 parallel multiplex reverse transcription-PCR reactions. Two bands (319 bp and 432 bp; arrow heads) are noted in lane 3. (B) Corresponding split-out reactions. Two positive bands in lane D represent the fusion transcript MLL1/ENL [t(11;19)(q23;p13.3)]. (Lanes 1 and A, 100-bp DNA ladder) (C) Part of the sequence from the 319-bp amplicon from lane D shows t(11;19) (q23;p13.3) MLL exon 9/MLLT1 exon 2. (D) Part of the sequence from the 432-bp amplicon from lane D shows t(11;19)(q23;p13.3) MLL exon 10/MLLT1 exon 2; pink, MLL exon 8; yellow, MLL exon 9; blue, MLL exon 10; green, 5' end of MLLT1 exon 2.
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F4
Both amplicons contained a t(11;19) (q23;p13.3)(MLL; MLLT1) translocation (Fig. 4).