PML-RARA t(15, 17)

F PML-RARA

Associations:

Acute promyelocytic leukemia

CPT Code:

88367 x2 - Morphometric analysis

Turnaround Time:

3 days

Methodology:

Fluorescence in situ hybridization (FISH)

Specimen Requirements:

5.0ml (min. 3.0 ml) peripheral blood in sodium heparin preferred, EDTA accepted

3.0ml (min 1.0ml) bone marrow in sodium heparin preferred, EDTA accepted

5mm3 fresh tissue in MPLN RPMI media

3.0ml (min 2.0ml) FNA in MPLN RPMI  media

Causes for Rejection:

Clotted specimen; specimen exposed to extreme temperature; anticoagulant toxic to cells; insufficient number of cells

Specimen Stability:

Peripheral blood and bone marrow stable at 18-25°C for 72 hours

Fresh tissue or FNA at 2°-8°C stable for 72 hours

Storage and Handling:

Whole blood and bone marrow ship ambient; fresh tissue or FNA ship in a styrofoam container with an ice pack (do not allow ice pack to directly contact sample)

Reference Range:

Presence or absence of PML-RARA translocation

Indication:

Approximately 96% of individuals with acute promyelocytic leukemia (AML M3) have a t(15;17) translocation. Data suggest that some karyotypically normal patients with the APL phenotype display a promyelocytic/retinoic acid receptor alpha (PML-RARA) rearrangement at the molecular level. The PML-RARA FISH probe was designed to detect the translocation between the PML locus at 15q22 and RARA locus at 17q21 in both metaphase and interphase cells.

References:

1. Berger et al. (1991). Cytogenetic studies in acute promyelcytic leukemia: a survey of secondary chromosomal abnormalities. Genes Chromosomes Cancer 3(5):332
2. McKinney et al. (1994). RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and atypical features. Genes Chromosomes Cancer 9(1):49
3. Brockman et al. (2003). New highly sensitive fluorescence in situ hybridization method to detect PML-RARA fusion in acute promyelocytic leukemia. Cancer Genet Cytogenet 145:144.