Details of Disease

General Information of Disease (ID: DIS40YPP)

Disease Name	Refractory chronic myeloid leukaemia
Synonyms	subacute granulocytic leukemia; atypical chronic myeloid leukemia; subacute myelogenous leukemia; subacute granulocytic leukaemia; atypical CML; atypical chronic myeloid leukaemia; atypical chronic myeloid leukemia, BCR-ABL1 Negative; aCML; subacute myeloid leukemia; atypical chronic myeloid leukemia BCR-ABL1 negative; subacute myeloid leukaemia; atypical chronic myeloid leukaemia BCR-ABL1 negative; subacute myelogenous leukaemia
Disease Class	2A20: Myeloproliferative neoplasm
Definition	A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)
Disease Hierarchy	DISDHXQ4: Myelodysplastic/myeloproliferative neoplasm DISFCLEY: Myelodysplastic/myeloproliferative disease DISMN944: Myeloid leukaemia DIS40YPP: Refractory chronic myeloid leukaemia
ICD Code	ICD-11 ICD-11: 2A20 ICD-10 ICD-10: D47.7 ICD-9 ICD-9: 205.1 Expand ICD-9 205.1
Disease Identifiers	MONDO ID MONDO_0004653 MESH ID D054438 UMLS CUI C1292772 MedGen ID 266233 Orphanet ID 98824 SNOMED CT ID 128826001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Decitabine	DMQL8XJ	Approved	Small molecular drug	[1]
Pipobroman	DMNL0E6	Approved	Small molecular drug	[2]
Sunitinib	DMCBJSR	Approved	Small molecular drug	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF3R	TTC70AJ	Strong	Genetic Variation	[4]
SPTBN1	TTS9BDA	Strong	Biomarker	[5]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHORDC1	OT3W6F1U	Strong	Biomarker	[6]
ETNK1	OTDKB4DQ	Strong	Genetic Variation	[7]
HBD	OTRQG4WA	Strong	Genetic Variation	[8]
PCM1	OTFM133C	Strong	Genetic Variation	[9]
RYK	OTZ3WWZH	Strong	Genetic Variation	[10]
SETBP1	OTKGCOSR	Strong	Genetic Variation	[4]
SPTAN1	OT6VY3A3	Strong	Genetic Variation	[11]
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⏷ Show the Full List of 7 DOT(s)

References

1	Decitabine FDA Label
2	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7271).
3	Sunitinib FDA Label
4	Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia.J Clin Lab Anal. 2020 Feb;34(2):e23064. doi: 10.1002/jcla.23064. Epub 2019 Nov 6.
5	A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy.Exp Hematol. 2007 Nov;35(11):1723-7. doi: 10.1016/j.exphem.2007.07.002. Epub 2007 Aug 30.
6	Morgana acts as an oncosuppressor in chronic myeloid leukemia.Blood. 2015 Apr 2;125(14):2245-53. doi: 10.1182/blood-2014-05-575001. Epub 2015 Feb 12.
7	Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.Blood. 2015 Jan 15;125(3):499-503. doi: 10.1182/blood-2014-06-579466. Epub 2014 Oct 24.
8	Elevated haemoglobin F in juvenile and adult chronic myelogenous leukaemia.Acta Haematol. 1988;80(1):28-33. doi: 10.1159/000205594.
9	The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene.Oncogene. 2005 Nov 3;24(48):7248-52. doi: 10.1038/sj.onc.1208850.
10	t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia.Cancer Lett. 2009 May 18;277(2):205-11. doi: 10.1016/j.canlet.2008.12.016. Epub 2009 Jan 24.
11	Identification of a novel CSF3R-SPTAN1 fusion gene in an atypical chronic myeloid leukemia patient with t(1;9)(p34;q34) by RNA-Seq.Cancer Genet. 2017 Oct;216-217:16-19. doi: 10.1016/j.cancergen.2017.05.002. Epub 2017 May 24.