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Fig. 4 | Molecular Cytogenetics

Fig. 4

From: Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population

Fig. 4

Subdivison of patients with CNAs of chromosome 21 by RUNX1 directed FISH. a. Interphase FISH detecting ETV6 (red) and RUNX1 (green) alleles from patients with elevated MLPA peak ratios. The number of RUNX1 signals was counted as evidence to differentiate between BCP-ALL with additional copies of chromosome 21 (left; middle; 3–4 signals) and an iAMP21 (right; ≥5 signals). b. Heat map plotting MLPA peak ratios obtained from the P327_B1 probe set. Depicted are patients with 2–4 RUNX1 signals (n = 31), ≥5 RUNX1 signals (n = 8), no available FISH data (n = 10), DS and Hyp + 21 controls (n = 8) as well as normal MLPA peak ratios (n = 12). The scale from Fig. 3 was applied. c. Scatter plot diagrams showing mean peak ratios of patients in annotated groups over all chromosome 21 probes (left) and CRA probes (right). Dashed lines illustrate mean values of each patient group. *, P < 0.05; ***, **, P < 0.01; ***, P < 0.001 (unpaired t-test, two tailed)

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Molecular Cytogenetics

ISSN: 1755-8166