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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

For STAT please call lab
3-5 days

Specimen Requirements

2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA stable at 2-8°C for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient.
Fresh tissue or FNA ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

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.