CBFB t(16;16), inv(16)


Test Name

CBFB t(16;16), inv(16)

Test Code

F CBFB

Synonyms

inv(16)

Associations

Acute myelogenous leukemia (AML), Eosinophilia M4eo

CPT Codes

88374

Turnaround Time

5

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 Rejections

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

Description

Structural abnormalities of chromosome 16 involving the CBFB locus have been identified in a specific group of patients with acute myelomonocytic leukemia (AML) type M4 with marked eosinophilia. Inversion 16, translocation 16;16, and deletion 16q with bre

References

  1. Egan N et al. (2004). Deletions of CBFB in a patient with acute myelomonocytic leukemia (AML M4Eo) and inversion 16. Cancer Genet Cytogenet 154(1):60.
  2. Aventin A et al. (2002). Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe. Cancer Genet Cytogenet. 134(2):142.
  3. Huret JL. (1991). Inv(16)(p13q22), t(16;16)(p13;q22), del(16)(q22). Atlas Genet Cytogenet Oncol Haematol.

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