20q Gene Deletion Probe Detection Kit (IVD)

20q Gene Deletion Probe Detection Kit (IVD)

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. 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. 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.

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. 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, whereas some studies reported that del(20q) in de novo myelodysplastic syndromes may only be associated with minimal morphological dysplasia.