IVD - FP020 20q Gene Deletion Probe Detection Kit

Cat.# FP-020: 20q Gene Deletion Probe Detection Kit 

[Overview] 

Deletion of the long arm of chromosome 20, del (20q), occurs in a variety of myeloid neoplasms, including myelodysplastic syndromes, acute myeloid leukemia, and Philadelphia chromosome-negative myeloproliferative neoplasms, seen in approximately 5–8%, 2%, and 2–10% of cases, respectively.1, 2, 3, 4 The presence of del(20q) appears to be associated with a favorable prognosis and low risk for acute myeloid leukemia transformation in patients with Philadelphia chromosome-negative myeloproliferative neoplasms and myelodysplastic syndromes.5, 6, 7, 8 However, in patients with de novo acute myeloid leukemia, del(20q) has been associated with a poor response to chemotherapy and reduced overall survival, and has been classified as intermediate II risk category.8, 9.

Isolated del(20q) has been well studied in de novo myelodysplastic syndromes.1 Patients with de novo myelodysplastic syndromes and isolated del(20q) often have an indolent clinical course, frequent thrombocytopenia, low blast counts, and high reticulocyte counts.6, 10, 11 The occurrence of isolated del(20q) is not considered as a definitive evidence for myelodysplastic syndromes in the absence of morphological evidence according to the 2008 WHO classification,1 whereas some studies reported that del(20q) in de novo myelodysplastic syndromes may only be associated with minimal morphological dysplasia.6, 12.

References

1. Brunning RD, Orazi A, Germing U et al. Myelodysplastic syndromes/neoplasms, overview. In: Swerdlow S, Campo E, Harris N et al(eds) WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Stylus Publishing, LLC: Sterling, VA, 2008, pp 88–93.
2. Bacher U, Schnittger S, Kern W et al. Distribution of cytogenetic abnormalities in myelodysplastic syndromes, Philadelphia negative myeloproliferative neoplasms, and the overlap MDS/MPN category. Ann Hematol 2009;88:1207–1213.
3. Heim S, Mitelman F . Cytogenetic analysis in the diagnosis of acute leukemia. Cancer 1992;70:1701–1709.
4. Bench AJ, Aldred MA, Humphray SJ et al. A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region. Genomics 1998;49:351–362.
5. Greenberg PL, Tuechler H, Schanz J et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood 2012;120:2454–2465.
6. Gupta R, Soupir CP, Johari V et al. Myelodysplastic syndrome with isolated deletion of chromosome 20q: an indolent disease with minimal morphological dysplasia and frequent thrombocytopenic presentation. Br J Haematol 2007;139:265–268.
7. Caramazza D, Begna KH, Gangat N et al. Refined cytogenetic-risk categorization for overall and leukemia-free survival in primary myelofibrosis: a single center study of 433 patients. Leukemia 2011;25:82–88.
8. Campbell LJ, Garson OM . The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders. Leukemia 1994;8:67–71.
9. Dohner H, Estey EH, Amadori S et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European Leukemia Net. Blood 2010;115:453–474.
10. Braun T, de Botton S, Taksin AL et al. Characteristics and outcome of myelodysplastic syndromes(MDS) with isolated 20q deletion: a report on 62 cases. Leuk Res 2011;35:863–867.
11. Sashida G, Takaku TI, Shoji N et al. Clinico-hematologic features of myelodysplastic syndrome presenting as isolated thrombocytopenia: an entity with a relatively favorable prognosis. Leuk Lymphoma 2003;44:653–658.
12. Steensma DP, Dewald GW, Hodnefield JM et al. Clonal cytogenetic abnormalities in bone marrow specimens without clear morphologic evidence of dysplasia: a form fruste of myelodysplasia? Leuk Res 2003;27:235–242.

[Download] 20q Gene Deletion Probe Instructions

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