A Case of Acute Myeloid Leukemia Harboring a Rare Three-Way Translocation t(5;7;7) Involving the PDGFRB Gene and Successfully Treated with Imatinib

Figures & data

Table 1 Peripheral Blood and Bone Marrow Trends Throughout Treatment Course

Peripheral Blood	Initial Presentation	Day 14	Day 28 AML-CR1	DAY 37	After Imatinib Therapy
WBC	380,000/mm^3	200/mm^3	2600/mm^3	35,900/mm^3	3300/mm^3
Segmented neutrophils	5%		36%	50%	60.1%
Banded neutrophils	3%		7%	9%
Metamyelocytes	2%		4%	4%
Myelocytes			2%	5%
Promyelocytes	6%		5%	1%
Lymphocytes	4%	80%	24%	9%	17.4%
Monocytes	8%	20%	22%	21%	12.4%
Eosinophils	3%			1%	9.8%
Blasts	66%
Hemoglobin	7.8 g/dL	8.4 g/dL	9.6 g/dL	12.1 g/dL	10.0 g/dL
Platelet count	35,000/mm^3	11,000/mm^3	179,000/mm^3	237,000/mm^3	54,000/mm^3
Bone Marrow
Cellularity	100%	Low	20–30%	95%	80%
Blasts	61%	No blasts	1%	3%	2%
Normoblasts			27%	20%	29%
Promonocytes	9%
Promyelocytes	3%		9%	3%	2%
Myelocytes, metamyelocytes, neutrophils	12%		50%	65%	53%
Eosinophils	2%		0%	7%	4%
Monocytes	13%		8%	8%	1%
Basophils	0%		3%	0%	0%
Lymphocytes	0%		2%	3%	9%
Plasma Cells	0%		0%	1%	0%

Figure 1 Karyotype. 46,XY,t(5;7;7) (q33.2; q32; q11.2). Arrows indicate the direction of the transfer of chromosomal material between the derivative chromosomes 5, 7 and 7.

Figure 2 Metaphase FISH using break apart probes for 3ʹPDGFRB (red signal) and 5ʹPDGFRB (green signal). Arrow A shows the normal chromosome 5 with an intact PDGFRB fusion signal (yellow). Arrow B shows the derivative chromosome 5 containing only the 3ʹ portion of PDGFRB (red signal). Arrow C shows the derivative chromosome 7 with the translocated 5ʹ portion of PDGFRB (green signal).

Figure 3 Whole chromosome 5 paint with green fluorescent probes. Arrow A shows the normal chromosome 5 with fluorescence label seen throughout the chromosome indicating intact chromosomal material. Arrow B shows the derivative chromosome 5; the unlabeled end of the long arm indicates the translocated chromosomal material from the derivative chromosome 7. Arrow C shows the derivative chromosome 7 containing translocated material from the der(5).

Figure 4 Whole chromosome 7 paint with red fluorescent probes. Arrow A shows the derivative chromosome 7. Arrow B shows the derivative chromosome 7 with the unlabeled part at the end indicating the translocated chromosomal material from the derivative chromosome 5. Arrow C shows the der(5) with translocated chromosomal material from der(7).