Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies

Velloso, Elvira Deolinda Rodrigues Pereira; Motta, Carlos Henrique Ares Silveira da; Furtado, Juliana Braga; Bacal, Nydia Strachman; Silveira, Paulo Augusto Achucarro; Moyses, Cynthia Bachir; Sitnik, Roberta; Pinho, João Renato Rebello

doi:10.1590/S1679-45082011AO2041

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Original Article • Einstein (São Paulo) 9 (2) • Apr-Jun 2011 • https://doi.org/10.1590/S1679-45082011AO2041 copy

Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies

Authorship SCIMAGO INSTITUTIONS RANKINGS

Objective:

To study the frequency of mutations that may lead to a good or bad prognosis, as well as their relation with the karyotype and immunophenotype in patients with acute myeloid leukemia.

Methods:

Thirty samples of patients with acute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples were submitted to immunophenotyping and 25 to karyotyping.

Results:

An occurrence of 33.3% NPM1 mutation and an equal number of FLT3-ITD mutation were observed. When only the cases with normal karyotype were studied, this figures increased to 50 and 40%, respectively. Eight percent of cases with normal karyotype and genotype NPM1+/FLT3- were included in the group of acute myeloid leukemia with good prognosis. The typical phenotype of acute myeloid leukemia with normal karyotype and mutated NPM1 (HLA-DR and CD34 negative) was not observed in this small series.

Conclusion:

Good prognosis cases were identified in this series, emphasizing the need to include new genetic markers in the diagnostic routine for the correct classification of acute myeloid leukemia, to more properly estimate prognosis and determine treatment.

Leukemia, myeloid, acute/genetics; Cytogenetics; Genetic makers; Chromosome aberrations

NUMBER	SEX	AGE	NPM1	FLT3	KARIOTYPE	Prognostic genetic Classification	Lineage (CD)					Maturation (CD)				Immaturity				Activation	Proliferation	Lineage B (CD)				Lineage T/NK (CD)
ITD						Prognostic genetic Classification	13	33	117	MPO	11b	11c	15	14	15/64	4	34	TdT	38	HLA-DR	71	19	20	22	79a	2	7	56
1	FEM	65	POS	POS	46,XX[20]	intermedate-1	POS	POS	POS	NEG	POS	NEG	POS	NEG	-	POS	NEG	NEG	POS	POS	NEG	NEG	-	-	NEG	POS	POS	NEG
2	FEM	34	POS	POS	46,XX[20]	intermediate-1	POS	POS	NEG	-	POS	POS	POS	NEG	-	-	NEG	-	POS	NEG	POS	-	-	-	-	NEG	NEG	NEG
3	FEM	30	POS	POS	46,XX[20]	intermediate-1	POS	POS	POS	POS	NEG	POS	POS	NEG	-	POS	NEG	-	POS	POS	POS	NEG	-	-	NEG	NEG	NEG	NEG
4	MALE	30	POS	NEG	46,XY[20]	favorable	POS	POS	POS	POS	NEG	POS	POS	NEG	-	POS	NEG	-	POS	NEG	POS	NEG	-	-	NEG	NEG	NEG	NEG
5	FEM	4B	POS	NEG	46,XY[20]	favorable	POS	POS	POS	POS	NEG	POS	POS	NEG	-	NEG	POS	-	POS	POS	NEG	NEG	-	-	NEG	NEG	POS	NEG
6	FEM	72	NEG	POS	46,XX[20]	intermediate-1	POS	POS	POS	POS	-	POS	POS	NEG	-	NEG	POS	-	POS	POS	POS	NEG	-	-	NEG	NEG	NEG	NEG
7	FEM	57	NEG	NEG	46,XX[20]	intermediate-1	POS	POS	POS	POS	NEG	POS	POS	NEG	-	NEG	POS	-	POS	POS	POS	-	-	-	NEG	NEG	NEG	NEG
8	FEM	32	NEG	NEG	46,XX[20]	intermediate-1	POS	POS	POS	POS	POS	POS	POS	NEG	-	POS	NEG	-	POS	POS	POS	NEG	-	-	NEG	NEG	NEG	NEG
9	MALE	73	NEG	NEG	46,XY[20]	intermediate-1	POS	POS	POS	POS	POS	NEG	POS	NEG	-	POS	NEG	-	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG
10	FEM	44	NEG	NEG	46,XX, inv (9) (p12q13)[20]	intermediate-1 (normal varient)	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	NEG	POS	NEG	POS	NEG	POS	NEG	-	-	NEG	NEG	NEG	NEG
11	FEM	30	NEG	POS	46,XX, t(15;17)(q22;q21) [14]	favorable (LPA)	POS	POS	POS	POS	NEG	NEG	POS	NEG	-	NEG	POS	NEG	POS	NEG	POS	NEG	-	-	NEG	POS	NEG	NEG
12	FEM	11	NEG	POS	46,XX,t(15;17)(q22;q21)[16]/46,XX[4]	favorable (LPA)	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	NEG	NEG	-	FOG-	NEG	POS	POS	NEG	NEG	NEG	NEG	NEG	NEG
13	FEM	30	NEG	NEG	46,XX,t(15;17)(q22;q21)[7],46,XX[13]	favorable (LPA)	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	NEG	NEG	-	POS	NEG	NEG	NEG	-	-	NEG	NEG	NEG	NEG
14	FEM	27	NEG	NEG	46,XX,t(15;17)(q22;q21) [20]	favorable (LPA)	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	NEG	NEG	-	POS	NEG	NEG	NEG	-	-	NEG	NEG	NEG	NEG
15	FEM	66	NEG	NEG	46,X,del(X)(q24),t(4;21;8)(q21;q22;q22)[21]	favorable (varient (8;21))	NEG	POS	POS	NEG	NEG	POS	POS	NEG	-	POS	NEG	-	POS	POS	NEG	NEG	-	-	NEG	NEG	NEG	POS
16	MALE	11	NEG	NEG	46,XY, del(16)(q22)[20]	intermediate-2	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	NEG	POS	-	POS	POS-	POS	NEG	-	-	NEG	NEG	NEG	NEG
17	FEM	B	NEG	NEG	46,XX, add(2)(q37)[20]	inetrmediate-2	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	NEG	POS	-	POS	POS	NEG	NEG	-	-	NEG	NEG	NEG	POS
18	MALE	59	NEG	NEG	46,XY,del(3)(p21)[18]	inetrmadiate-2	NEG	POS	NEG	-	NEG	NEG	NEG	NEG	-	NEG	NEG	-	POS	NEG	POS	NEG	-	-	-	POS	POS	NEG
19	FEM	48	POS	POS	47,XX,+5[3]/46,XX[17]	intermadiate-2	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	POS	POS	-	POS	POS	POS	NEG	-	-	NEG	NEG	NEG	NEG
20	FEM	68	NEG	NEG	46,XX,t(6;19)(q 16;p 12) [5]/46,X[15]	intermadiate-2	POS	POS	POS	NEG	NEG	POS	NEG	NEG	-	NEG	NEG	-	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG
21	MALE	61	NEG	NEG	46,XY,t(3;3)(q21;q26)[19]/46,XY[1]	unfavorable	POS	POS	POS	NEG	POS	NEG	NEG	NEG	-	NEG	POS	POS	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG
22	MALE	15	NEG	NEG	46,XY,t(6;9)(p23;q34)[20] 46,XY, inv(9)	unfavorable	POS	POS	NEG	-	POS	POS	POS	NEG	-	POS	NEG	-	POS	POS	NEG	NEG	-	-	-	NEG	NEG	NEG
23	MALE	9	NEG	NEG	p21q13), t(11;?)(q23;?) [19]	unfavorable	POS	POS	POS	NEG	NEG	NEG	NEG	NEG	-	NEG	POS	-	POS	POS	POS	NEG	-	-	NEG	NEG	NEG	NEG
24	FEM	61	NEG	NEG	46,XX,del(7)(q21)[7]/46,XX[13]	unfavorable	POS	POS	POS	POS	NEG	NEG	NEG	NEG	-	POS	POS	-	POS	NEG	NEG	NEG	-	-	NEG	NEG	NEG	POS
25	MALE	20	NEG	NEG	46,XY,t(9;18)(q34;q22),t(13;20)(q12;q13.2)[15]/46,XY[5]	unfavorable	POS	POS	POS	-	-	POS	POS	NEG	-	POS	POS	-	POS	POS	POS	NEG	-	-	-	NEG	NEG	POS
26	MALE	61	POS	POS	-		POS	POS	NEG	POS	NEG	NEG	NEG	NEG	-	NEG	NEG	-	NEG	NEG	NEG	NEG	-	-	NEG	NEG	NEG	POS
27	FEM	89	POS	POS	-		POS	POS	POS	NEG	NEG	NEG	NEG	NEG	-	NEG	POS	-	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG
28	FEM	51	POS	NEG	-		POS	POS	POS	POS	POS	POS	POS	NEG	-	POS	NEG	-	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG
29	FEM	94	POS	NEG	-		POS	POS	POS	NEG	NEG	NEG	NEG	NEG	-	NEG	POS	-	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG
30	FEM	61	NEG	POS	-		POS	POS	POS	POS	-	NEG	POS	NEG	-	NEG	POS	-	POS	POS	POS	NEG	-	-	NEG	NEG	POS	NEG

Instituto Israelita de Ensino e Pesquisa Albert Einstein Avenida Albert Einstein, 627/701 , 05651-901 São Paulo - SP, Tel.: (55 11) 2151 0904 - São Paulo - SP - Brazil
E-mail: revista@einstein.br

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[1] Corresponding author: Elvira Deolinda Rodrigues Pereira Velloso – laboratório de Técnicas Especiais do Hospital Israelita Albert Einstein – Avenida Albert Einstein, 627/701 – Morumbi – CEP 05651-901 – São Paulo (SP), Brasil – Tel.: (11) 2151-5555 – Fax: (11) 2151-2122 – e-mail: elviradv@einstein.br

AMl with recurrent genetic abnormalities
	AMl with t(8;21)(q22;q22)- RUNX1T1-RUNX1
	AMl with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)- CBFß-MYH11
	Acute promyelocitic leukemia with t(15;17)(q22;q21)- PML-RARA
	AMl with t(9;11)(p22;q23)- MLLT3-MLL
	AMl with t(6;9)(p23;q34)- DEK-NUP214
	AMl with inv(3)(q21;q26.2) or t(3;3)(q21;q26.3) RPN1-EVI1
	AMl (megakaryoblastic) with t(1;22)(p13;q13)- RBM15-MKL1
	AMl with NPM1 mutation – temporary entity
	AMl with CEBPA mutation - temporary entity
AMl with alterations related to myelodysplasia
Myeloid neoplasms related to therapy
Non specified AMl
Myeloid sarcoma
Myeloid proliferations related to Down syndrome
Blastic plasmacytoid dendritic cell neoplasm

Favorable	t(15;17)(q22;q21)-PML-RARA
	t(8;21)(q22;q22)-RUNX1T1-RUNX1
	inv(16)(p13.1q22) or t(16;16)(p13.1;q22)-CBFß-MYH11
	Mutated NPM1 and with no FLT3-ITD (normal karyotype)
	Mutated CEBPA (normal karyotype)
Intermediate I	Mutated NPM1 and with FLT3-ITD (normal karyotype)
	Wild-type NPM1 and with FLT3-ITD (normal karyotype)
	Wild-type NPM1 and with no FLT3-ITD (normal karyotype)
Intermediate II	t(9;11)(p22;q23)-MLLT3-MLL
	Unfavorable or favorable cytogenetic abnormalities
Unfavorable	inv(3)(q21;q26.2) or t(3;3)(q21;q26.3) -RPN1-EVI1
	t(6;9)(p23;q34)-DEK-NUP214
	t(v;11)(v;q23)-MLL rearrangement
	-5/5q-, –7/7q
	Complex karyotype