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FISH, AML/MDS, CEP 8, Trisomy 8
Test Code16669
CPT Codes
88271, 88275
Preferred Specimen
3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL bone marrow • 3 mL whole blood
Other Acceptable Specimens
Sodium heparin (royal blue-top) tube • Sodium heparin lead-free (tan-top) tube
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Fluorescence in situ Hybridization (FISH)
Setup Schedule
Set up: Daily; Report available: 5 days
Clinical Significance
This test uses fluorescence in situ hybridization (FISH) to detect trisomy 8 in patients with myeloid disorders. This FISH test may be used to aid standard cytogenetic testing to increase the detection rate of trisomy 8 when the result of standard cytogenetic testing is uncertain or when the specimen is suboptimal [1,2]. Identification of trisomy 8 in patients with myeloid disorders may inform prognosis and aid in follow-up testing to monitor treatment outcomes [3-5].
Trisomy 8 is a common abnormality in patients with myeloid disorders, such as chronic myeloid leukemia (CML), acute myeloid leukemia (AML), myeloproliferative neoplasms (MPNs), myelodysplastic syndromes (MDS), and hematologic disorders not otherwise specified. Trisomy 8 is the most common numerical aberration in AML and the second-most common in MDS [3]. As a sole abnormality, trisomy 8 is associated with an intermediate prognosis in patients with AML [4]. In patients with MDS, trisomy 8 is also associated with an intermediate prognosis according to the Revised International Prognostic Scoring System (IPSS-R) [5]. Note that in the absence of defining morphological criteria, trisomy 8 is not considered definitive evidence of a hematologic neoplasm [6].
Although trisomy 8 is strongly associated with myeloid malignancies, it is not specific for myeloid disorders. Trisomy 8 has been found in many other neoplastic disorders, such as lymphomas, lymphoblastic leukemias, desmoid tumors, and Dupuytren contracture [3]. In addition, myeloid disorders often harbor many recurring cytogenetic aberrations other than trisomy 8. Thus, this assay does not serve as a stand-alone test for myeloid disorders [1].
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. CEP 8 SpectrumOrange DNA probe kit. Package insert. Abbott; 2012. Accessed April 3, 2022.
2. Jenkins RB, et al. Blood. 1992;79(12):3307-3315.
3. Paulsson K, Johansson B. Pathol Biol (Paris). 2007;55(1):37-48.
4. Hemsing AL, at al. Expert Rev Hematol. 2019;12(11):947-958.
5. Greenberg PL, et al. Blood. 2012;120(12):2454-2465.
6. Swerdlow S, et al, eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Vol 2. 4th ed. IARC Press; 2017:104.
Trisomy 8 is a common abnormality in patients with myeloid disorders, such as chronic myeloid leukemia (CML), acute myeloid leukemia (AML), myeloproliferative neoplasms (MPNs), myelodysplastic syndromes (MDS), and hematologic disorders not otherwise specified. Trisomy 8 is the most common numerical aberration in AML and the second-most common in MDS [3]. As a sole abnormality, trisomy 8 is associated with an intermediate prognosis in patients with AML [4]. In patients with MDS, trisomy 8 is also associated with an intermediate prognosis according to the Revised International Prognostic Scoring System (IPSS-R) [5]. Note that in the absence of defining morphological criteria, trisomy 8 is not considered definitive evidence of a hematologic neoplasm [6].
Although trisomy 8 is strongly associated with myeloid malignancies, it is not specific for myeloid disorders. Trisomy 8 has been found in many other neoplastic disorders, such as lymphomas, lymphoblastic leukemias, desmoid tumors, and Dupuytren contracture [3]. In addition, myeloid disorders often harbor many recurring cytogenetic aberrations other than trisomy 8. Thus, this assay does not serve as a stand-alone test for myeloid disorders [1].
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. CEP 8 SpectrumOrange DNA probe kit. Package insert. Abbott; 2012. Accessed April 3, 2022.
2. Jenkins RB, et al. Blood. 1992;79(12):3307-3315.
3. Paulsson K, Johansson B. Pathol Biol (Paris). 2007;55(1):37-48.
4. Hemsing AL, at al. Expert Rev Hematol. 2019;12(11):947-958.
5. Greenberg PL, et al. Blood. 2012;120(12):2454-2465.
6. Swerdlow S, et al, eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Vol 2. 4th ed. IARC Press; 2017:104.
