How are cytogenetic studies used to diagnose acute promyelocytic leukemia (APL)?

Updated: May 26, 2020
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Cytogenetic studies are also useful for confirming a diagnosis of APL, which bears the t(15;17) chromosome abnormality and is treated differently. See Table 2, below.

Table 2. Cytogenetic Abnormalities in APL (Open Table in a new window)

Translocation

Genes Involved

All-Trans-Retinoic Acid Response

t(15;17)(q21;q11)

PML/RARa

Yes

t(11;17)(q23;q11)

PLZF/RARa

No

t(11;17)(q13;q11)

NuMA/RARa

Yes

t(5;17)(q31;q11)

NPM/RARa

Yes

t(17;17)

stat5b/RARa

Unknown


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