Myeloid Sarcoma, FISH, Tissue
Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Myeloid sarcomas are tumors made up of myeloblasts or immature myeloid cells that occur in extramedullary sites or in bone. They can occur concurrently with acute or chronic myeloid leukemia (AML or CML) or may precede the leukemia or other myeloid neoplasms. They may also be the initial manifestation of relapse of a previously treated primary AML in remission. Due to this extramedullary presentation, the bone marrow may have a low number of myeloblasts due to a lack of bone marrow involvement.
The most common abnormalities seen in myeloid sarcomas are fusion of RUNX1T1/RUNX1 [t(8;21)(q22;q22)], PML/RARA [t(15;17)(q24;q21)], BCR/ABL [t(9;22)(q34;q11.2)], inversion of MYH11/CBFB [inv(16)(q13.1q22)], and rearrangements of MLL [t(11q23;var)].
In general, AML patients with an inv(16), t(8;21), t(9;22) or t(15;17) have a favorable prognosis, while AML patients with a rearrangement of t(11q23) have an unfavorable prognosis. Thus, the detection of these abnormalities in an extramedullary presentation of AML can be prognostically important.
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.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for a given probe set.
A positive result supports the diagnosis of a myeloid sarcoma.
A negative result does not exclude the diagnosis of a myeloid sarcoma.
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 is best used as an adjunct to existing clinical and pathologic information.
Fixatives other than formalin (eg, Prefer, Bouin's) may not be successful for FISH assays. Although FISH testing will not be rejected due to non-formalin fixation, results may be compromised.
Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slides may find it necessary to cancel testing.
For each probe set, FISH analysis was performed on 25 normal paraffin-embedded, formalin-fixed tissue controls and results were used to generate the normal cutoff values. A retrospective data review of FISH analysis performed on myeloid sarcomas identified 3 cases with RUNX1T1/RUNX1 fusion, 1 case with BCR/ABL1 fusion, 3 cases with rearrangement of MLL, 4 cases with PML/RARA fusion, and 4 cases with MYH11/CBFB fusion. No translocations or rearrangements were identified in the 25 normal controls.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Slovak ML, Kopecky KJ, Cassileth PA, et al: Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study. Blood 2000;96:4075-4083
2. Myeloid sarcoma. In WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Edited by SH Swerdlow, E Campo, NL Harris, et al. Lyon: IARC Press. 2008, pp 140-141
3. Grimwade D, Hills RK, Moorman AV, et al: Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 2010;116:354-365