Recurring chromosomal abnormalities in adults with myelodysplastic syndrome

Disease	Chromosome abnormality	Frequency	Involved genes*		Consequence
MDS unbalanced	+8	10%
	–7/del(7q)	10%
	del(5q)	10%
	del(20q)	5 to 8%
	–Y	5%
	i(17p)	3 to 5%	TP53		Loss of function
	–13/del(13q)	3%
	del(11q)	3%
	del(12p)/t(12p)	3%
	del(9q)	1 to 2%
	idic(X)(q13)	1 to 2%
Balanced	t(1;3)(p36.3;q21.3)	1%	PRDM16	MECOM	Deregulation of PRDM16 - transcriptional activation?
	t(2;11)(p21;q23.3)/t(11q23.3)	1%		KMT2A	KMT2A fusion protein - altered transcriptional regulation
	inv(3)(q21.3q26.2)	1%		MECOM	Overexpression of MECOM - altered transcriptional regulation
	t(6;9)(p23.3;q34.1)	1%	DEK	NUP214	Fusion protein - nuclear pore protein
Therapy-related MDS	–7/del(7q)	50%
	del(5q)	40 to 45%
	dic(5;17)(q11.1-13;p11.1-13)	5%		TP53	Loss of function, DNA damage response
	der(1;7)(q10;p10)	3%
	t(3;21)(q26.2;q22.1)	2%	MECOM	RUNX1	Loss of RUNX1, overexpression of MECOM - altered transcriptional regulation
	t(11;16)(q23.3;p13.3)/t(11q23)	3%	KMT2A	CREBBP	KMT2A fusion protein - altered transcriptional regulation

* Genes are listed in order of citation in the karyotype, eg, for the t(11;16), KMT2A is at 11q23.3 and CREBBP at 16p13.3.

Source: Vardiman, JW, Brunning, RD, Arber, DA, et al. Introduction and overview of the classification of the myeloid neoplasms. In: WHO classification of tumors of hematopoietic and lymphoid tissues, Swerdlow, SH, Campo, E, Harris, NL, et al. (Eds), WHO Press, 2008.
Modified with additional data from:

Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127:2391.

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خرید پکیج

Recurring chromosomal abnormalities in adults with myelodysplastic syndrome