Details of Disease

Disease Name

Acute myelomonocytic leukemia M4

acute myeloblastic leukemia type 4; acute myeloblastic leukaemia type 4; AML-M4; acute myelomonocytic leukemia; acute M4 myeloid leukaemia; AMML; acute M4 myeloid leukemia; acute myelomonocytic leukemia (FAB type M4); AML M4; AMMoL; acute myelomonocytic leukaemia (FAB type M4); acute myelomonocytic leukaemia

Definition

An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)

Disease Hierarchy

DIS0BM1I: Acute myeloid leukaemia

DISRRMV2: Acute myelomonocytic leukemia M4

Disease Identifiers

MONDO ID

MONDO_0018871

MESH ID

D015479

UMLS CUI

C0023479

MedGen ID

9732

HPO ID

HP:0004820

Orphanet ID

517

SNOMED CT ID

110005000

General Information of Disease (ID: DISRRMV2)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FLT3	TTGJCWZ	Limited	Genetic Variation	[1]
CD38	TTPURFN	Strong	Altered Expression	[2]
KIT	TTX41N9	Strong	Biomarker	[3]
KMT2A	TT1GNDM	Strong	Genetic Variation	[4]
LILRB4	TTREOKA	Strong	Altered Expression	[5]
MYB	TT8V13P	Strong	Genetic Variation	[6]
NSD1	TTTSJ3H	Strong	Genetic Variation	[7]
PRG4	TTSKF4V	Strong	Genetic Variation	[8]
SEPTIN6	TTAGE7U	Strong	Altered Expression	[9]
SIRPA	TTBRJS9	Definitive	Altered Expression	[10]
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⏷ Show the Full List of 10 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A2	DTW78DQ	Strong	Genetic Variation	[11]
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This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MNX1	OTXP9FH1	Limited	Altered Expression	[12]
CBFB	OTIAC6W4	Strong	Genetic Variation	[13]
CEBPZ	OT11BATG	Strong	Genetic Variation	[14]
DERL1	OTJUS74N	Strong	Biomarker	[15]
EVPL	OTZIAFEK	Strong	Biomarker	[16]
FANCB	OTMZTXB5	Strong	Altered Expression	[17]
GATA2	OTBP2QQ2	Strong	Genetic Variation	[18]
HLA-DMB	OT17HGXJ	Strong	Biomarker	[19]
HOXC13	OT52AVNA	Strong	Genetic Variation	[20]
HOXC5	OTPQTLKZ	Strong	Altered Expression	[21]
HOXD11	OT9XGA4G	Strong	Genetic Variation	[22]
KNL1	OT4Q3LHV	Strong	Biomarker	[23]
MLLT11	OTG5RVHC	Strong	Biomarker	[24]
NCOA2	OTMQFPBB	Strong	Genetic Variation	[25]
NUP98	OTNT12G2	Strong	Genetic Variation	[26]
OPN1LW	OTFNUZ7O	Strong	Genetic Variation	[27]
PAG1	OTFOJUIQ	Strong	Genetic Variation	[27]
PCBP4	OTDLL4NB	Strong	Genetic Variation	[27]
PLSCR1	OTGY9B5T	Strong	Altered Expression	[28]
PRDM16	OT0BGA27	Strong	Genetic Variation	[29]
RANBP2	OTFG5CVF	Strong	Biomarker	[30]
RUNX1T1	OT30DED5	Strong	Genetic Variation	[31]
TMEM132D	OTV6I4Z0	Strong	Biomarker	[32]
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⏷ Show the Full List of 23 DOT(s)

References

1	Spectrum and Immunophenotypic Profile of Acute Leukemia: A Tertiary Center Flow Cytometry Experience.Mediterr J Hematol Infect Dis. 2019 Mar 1;11(1):e2019017. doi: 10.4084/MJHID.2019.017. eCollection 2019.
2	Retinoic acid-induced CD38 expression in HL-60 myeloblastic leukemia cells regulates cell differentiation or viability depending on expression levels. J Cell Biochem. 2006 Apr 15;97(6):1328-38. doi: 10.1002/jcb.20745.
3	Core-binding factor acute myeloid leukemia in pediatric patients enrolled in the AIEOP AML 2002/01 trial: screening and prognostic impact of c-KIT mutations.Leukemia. 2014 May;28(5):1132-4. doi: 10.1038/leu.2013.339. Epub 2013 Nov 14.
4	Identification of a Cryptic Insertion ins(11;X)(q23;q28q12) Resulting in a KMT2A-FLNA Fusion in a 13-Month-Old Child with Acute Myelomonocytic Leukemia.Cytogenet Genome Res. 2016;150(3-4):281-286. doi: 10.1159/000458165. Epub 2017 Mar 3.
5	Expression of immune inhibitory receptor ILT3 in acute myeloid leukemia with monocytic differentiation.Cytometry B Clin Cytom. 2013 Jan-Feb;84(1):21-9. doi: 10.1002/cyto.b.21050. Epub 2012 Oct 18.
6	Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases.Leukemia. 2009 Jan;23(1):85-94. doi: 10.1038/leu.2008.257. Epub 2008 Sep 25.
7	NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern.Blood. 2011 Sep 29;118(13):3645-56. doi: 10.1182/blood-2011-04-346643. Epub 2011 Aug 2.
8	Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25).Int J Hematol. 2002 Jun;75(5):503-7. doi: 10.1007/BF02982114.
9	Molecular analysis of t(X;11)(q24;q23) in an infant with AML-M4.Genes Chromosomes Cancer. 2003 Nov;38(3):253-9. doi: 10.1002/gcc.10272.
10	Engagement of SIRP inhibits growth and induces programmed cell death in acute myeloid leukemia cells.PLoS One. 2013;8(1):e52143. doi: 10.1371/journal.pone.0052143. Epub 2013 Jan 8.
11	Rearrangement between the MYH11 gene at 16p13 and D12S158 at 12p13 in a case of acute myeloid leukemia M1 (AML-M1).Genes Chromosomes Cancer. 1998 Sep;23(1):10-5. doi: 10.1002/(sici)1098-2264(199809)23:1<10::aid-gcc2>3.3.co;2-7.
12	Activation of HLXB9 by juxtaposition with MYB via formation of t(6;7)(q23;q36) in an AML-M4 cell line (GDM-1).Genes Chromosomes Cancer. 2005 Feb;42(2):170-8. doi: 10.1002/gcc.20113.
13	Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits.Cancer Genet Cytogenet. 2009 Mar;189(2):87-92. doi: 10.1016/j.cancergencyto.2008.10.012.
14	Prognostic value of minimal residual disease quantification by real-time reverse transcriptase polymerase chain reaction in patients with core binding factor leukemias.J Clin Oncol. 2003 Dec 1;21(23):4413-22. doi: 10.1200/JCO.2003.03.166.
15	Myelodysplastic syndrome that progressed to acute myelomonocytic leukemia with eosinophilia showing peculiar chromosomal abnormality: a case report.J Korean Med Sci. 1999 Aug;14(4):448-50. doi: 10.3346/jkms.1999.14.4.448.
16	p210 BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16).Int J Hematol. 2012 Dec;96(6):814-7. doi: 10.1007/s12185-012-1190-y. Epub 2012 Oct 11.
17	Prognostic significance of CXCR4 expression in acute myeloid leukemia.Cancer Med. 2019 Nov;8(15):6595-6603. doi: 10.1002/cam4.2535. Epub 2019 Sep 13.
18	GATA2 zinc finger 1 mutations are associated with distinct clinico-biological features and outcomes different from GATA2 zinc finger 2 mutations in adult acute myeloid leukemia.Blood Cancer J. 2018 Aug 31;8(9):87. doi: 10.1038/s41408-018-0123-2.
19	Targeting cell-bound MUC1 on myelomonocytic, monocytic leukemias and phenotypically defined leukemic stem cells with anti-SEA module antibodies.Exp Hematol. 2019 Feb;70:97-108. doi: 10.1016/j.exphem.2018.12.002. Epub 2018 Dec 26.
20	Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review.Cancer Genet Cytogenet. 2009 Sep;193(2):98-103. doi: 10.1016/j.cancergencyto.2009.03.007.
21	Differentiation and cell-type-restricted expression of HOXC4, HOXC5 and HOXC6 in myeloid leukemias and normal myeloid cells.Leukemia. 1998 Nov;12(11):1724-32. doi: 10.1038/sj.leu.2401106.
22	Successful treatment of acute myelomonocytic leukaemia with NUP98-HOXD11 fusion transcripts and monitoring of minimal residual disease.Br J Haematol. 2003 Jan;120(2):274-6. doi: 10.1046/j.1365-2141.2003.04052.x.
23	Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).Oncogene. 2003 Mar 6;22(9):1418-24. doi: 10.1038/sj.onc.1206272.
24	A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.Blood. 1995 Feb 1;85(3):650-6.
25	A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion.Int J Mol Med. 2003 Oct;12(4):423-8.
26	Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9.Int J Hematol. 2008 Dec;88(5):571-574. doi: 10.1007/s12185-008-0198-9. Epub 2008 Nov 13.
27	RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications.Leukemia. 2004 Jun;18(6):1115-21. doi: 10.1038/sj.leu.2403353.
28	MmTRA1b/phospholipid scramblase 1 gene expression is a new prognostic factor for acute myelogenous leukemia.Leuk Res. 2004 Feb;28(2):149-57. doi: 10.1016/s0145-2126(03)00189-9.
29	Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1.Genes Chromosomes Cancer. 2003 Mar;36(3):313-6. doi: 10.1002/gcc.10176.
30	RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia.Cancer Genet. 2014 Jan-Feb;207(1-2):40-5. doi: 10.1016/j.cancergen.2013.12.003. Epub 2014 Jan 21.
31	Morphological and cytogenetic changes in therapy-related leukemia developed in a t(8;21)-acute myeloid leukemia (M2) patient: sequential cytogenetic and molecular analyses.Int J Hematol. 2000 Jun;71(4):353-8.
32	The cytotoxic potential of interleukin-15-stimulated cytokine-induced killer cells against leukemia cells.Cytotherapy. 2012 Jan;14(1):91-103. doi: 10.3109/14653249.2011.613931. Epub 2011 Oct 6.