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PML/RARA t(15,17) by FISH

Test Code

F PML/RARA

Test Synonyms

t(15;17)(q22;q21.1)

Associations

Acute promyelocytic leukemia (APL);
ATRA

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

STAT

Specimen Requirements

5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

Specimen Stability
Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours
Fixed cell pellets are stable for years when stored at -28°C to 15°C
Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative

Reference Range

In a normal cell, a two orange and two green signal pattern is observed. In an abnormal cell containing the t(15;17), one orange, a one green and a two fusion signal pattern is observed.

Description

Acute promyelocytic leukemia (APL) accounts for 10% of adult myeloid leukemia and is frequently associated with a translocation involving the promyelocytic leukemia (PML) gene at 15q22 and the retinoic acid α-receptor (RARα) gene at 17q21 resulting in fusion of the genes PML and RARA. Although all patients with APL have t(15;17) or a variant of this translocation, conventional cytogenetic methods detect these translocations in only 70–96% of patients at diagnosis. FISH can detect this translocation in either interphase or metaphase cells.

References
  1. Brockman et al. (2003). Cancer Genet Cytogenet. 145:144.