Recurring chromosomal abnormalities considered presumptive evidence of MDS in the absence of definitive morphological features (Swerdlow et al3).
| Abnormality . | WHO-estimated frequency in MDS, % . | Gene(s) involved (HGNC) . |
|---|---|---|
| Comments: Although +8, del(20q), and –Y are common chromosomal abnormalities in MDS, the presence of one of these three abnormalities as the sole cytogenetic abnormality in cases where morphological criteria for MDS are not met is not considered to be enough for a presumptive diagnosis to be made. | ||
| t-MDS indicates therapy-related myelodysplastic syndromes; WHO, World Health Organization; HGNC, HUGO Gene Nomenclature Committee gene names (current as of April 2009). | ||
| Unbalanced | ||
| −7 or del(7q) | 10; 50 in t-MDS | Unknown |
| −5 or del(5q) | 10; 40 in t-MDS | Unknown; candidates include RPS14, SPARC, RBM22, CTNNA1, CDC25C, and others, including combinations |
| i(17q) or t(17p) | 3–5 | TP53 |
| −13 or del(13q) | 3 | Unknown |
| del(11q) | 3 | Unknown |
| del(12p) or t(12p) | 3 | ETV6 in some cases |
| del(9q) | 1–2 | Unknown |
| idic(X)(q13) | 1–2 | Unknown |
| Balanced | ||
| t(11;16)(q23;p13.3) | 3 in t-MDS | MLL, CREBBP |
| t(3;21)(q26.2;q22.1) | 2 in t-MDS | RUNX1, MDS1-EVI1 |
| t(1;3)(p36.3;q21.2) | < 1 | PRDM16, MDS1-EVI1 |
| t(2;11)(p21;q23) | < 1 | miR-125b-1 |
| inv(3)(q21q26.2) | < 1 | MDS1-EVI1, RPN1 regulatory elements |
| t(6;9)(p23;q34) | < 1 | DEK-NUP214 |
| Abnormality . | WHO-estimated frequency in MDS, % . | Gene(s) involved (HGNC) . |
|---|---|---|
| Comments: Although +8, del(20q), and –Y are common chromosomal abnormalities in MDS, the presence of one of these three abnormalities as the sole cytogenetic abnormality in cases where morphological criteria for MDS are not met is not considered to be enough for a presumptive diagnosis to be made. | ||
| t-MDS indicates therapy-related myelodysplastic syndromes; WHO, World Health Organization; HGNC, HUGO Gene Nomenclature Committee gene names (current as of April 2009). | ||
| Unbalanced | ||
| −7 or del(7q) | 10; 50 in t-MDS | Unknown |
| −5 or del(5q) | 10; 40 in t-MDS | Unknown; candidates include RPS14, SPARC, RBM22, CTNNA1, CDC25C, and others, including combinations |
| i(17q) or t(17p) | 3–5 | TP53 |
| −13 or del(13q) | 3 | Unknown |
| del(11q) | 3 | Unknown |
| del(12p) or t(12p) | 3 | ETV6 in some cases |
| del(9q) | 1–2 | Unknown |
| idic(X)(q13) | 1–2 | Unknown |
| Balanced | ||
| t(11;16)(q23;p13.3) | 3 in t-MDS | MLL, CREBBP |
| t(3;21)(q26.2;q22.1) | 2 in t-MDS | RUNX1, MDS1-EVI1 |
| t(1;3)(p36.3;q21.2) | < 1 | PRDM16, MDS1-EVI1 |
| t(2;11)(p21;q23) | < 1 | miR-125b-1 |
| inv(3)(q21q26.2) | < 1 | MDS1-EVI1, RPN1 regulatory elements |
| t(6;9)(p23;q34) | < 1 | DEK-NUP214 |