Interpretive Handbook

Test 87894 :
Acute Myeloid Leukemia (AML), FISH

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Acute myeloid leukemia (AML) is one of the most common adult leukemias, with almost 10,000 new cases diagnosed per year. AML also comprises 15% of pediatric acute leukemia and accounts for the majority of infant (<1-year old) leukemia. Several subtypes of AML have been recognized (termed AML-M0, M1, M2, M3, M4, M5, M6, and M7) based on the cell morphology and myeloid lineage involved.


In addition to morphology, several recurrent chromosomal abnormalities have been linked to specific subtypes of AML. The most common chromosome abnormalities associated with AML include t(8;21), t(15;17), inv(16), +8, t(6;9), t(8:16), t(1;22), t(3;5), t(9;22) and abnormalities of the MLL gene at 11q23. The most common genes juxtaposed with MLL through translocation events in AML include MLTT4 t(6;11), MLLT3 t(9;11), MLLT10 t(10;11), CREBBP t(11;16), ELL t(11;19p13.1), and MLLT1 t(11;19p13.3).


AML can also evolve from myelodysplasia (MDS). Thus, the common chromosome abnormalities associated with MDS can also be identified in AML, which include: inv(3), -5/5q-, -7/7q-, +8, 13q-, 17p-, 20q-, t(1;3), and t(3;21). In combination, the multiple recurrent chromosome abnormalities identified in patients with AML are observed in approximately 60% of diagnostic AML cases.


Conventional chromosome analysis is the gold standard for identification of the common, recurrent chromosome abnormalities in AML. However, this analysis requires dividing cells, takes 5 to 7 days to process, and some of the subtle rearrangements can be missed (eg, inv[16] and MLL anomalies). Thus, we have validated a combination of commercially available and Mayo in-house developed FISH probes to detect the common chromosome abnormalities observed in AML patients. These probes have diagnostic and prognostic relevance and can also be used to track response to therapy.


Our panel of multiple FISH probes can be utilized to study nonproliferating (interphase) cells and can identify the all the common cytogenetic abnormalities associated with AML.

Useful For Suggests clinical disorders or settings where the test may be helpful

Detecting a neoplastic clone associated with the common chromosome anomalies seen in patients with acute myeloid leukemia or other myeloid malignancies


Evaluating specimens in which standard cytogenetic analysis is unsuccessful


Identifying and tracking known chromosome anomalies in patients with myeloid malignancies and tracking response to therapy

Interpretation Provides information to assist in interpretation of the test results

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe.


Detection of an abnormal clone likely indicates a diagnosis of an acute myeloid leukemia of various subtypes.


The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is not approved by the FDA and it is best used as an adjunct to existing clinical and pathologic information.


This test is not appropriate for testing paraffin-embedded tissue samples from patients with myeloid sarcoma, see FMST / Myeloid Sarcoma, FISH, Tissue.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Grimwade D, Hills RK, Moorman AV, et al: Refinement of cytogenetics classification in acute myeloid leukemia: determination of prognostic significance or rare recurring chromosomal abnormalities among 5879 younger adult patients treated in the United Kingdom Research Council trials. Blood 2010 Jul;116(3):354-365

2. International Agency for Research on Cancer (IARC): World Health Organization (WHO) classification of tumour of haematopoietic and lymphoid tissues. Edited by SH Swerdlow, E Campo, NL Harris, et al. IARC Press, Oxford: Oxford University Press (distributor), 2008