IllnessLeukaemia, chronic myelomonocytic, hereditary; differential diagnosis

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Summary

Short information

A curated panel containing 7 genes for the comprehensive analysis of the hereditary chronic myelomoncytic leukemia

LP0310

Number of genes

7 Accredited laboratory test

Examined sequence length

0,0 kb (Core-/Core-canditate-Genes)
22,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ANKRD26	5133	610855	NM_014915.3	AD
CBL	2721	165360	NM_005188.4	AD
ETV6	1359	600618	NM_001987.5	Gen Fusion
GATA2	1443	137295	NM_032638.5	AD
NF1	8457	613113	NM_001042492.3	AD
PTPN11	1782	176876	NM_002834.5	AD
RUNX1	1443	151385	NM_001754.5	AD, Gen Fusion

Informations about the disease

Clinical Comment

ORPHANET #s: CMML 98823; JMML 86834

JMML is an aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder with malignant transformation in the hematopoietic stem cell compartment + proliferation of differentiated progeny

Synonyms

Alias: Chronic myelomonocytic leukemia, CMML
Alias: Juvenile myelomonocytic leukemia, JMML
Allelic: AML, MDS [panelapp] (RUNX1)
Allelic: Emberger syndrome (GATA2)
Allelic: Immunodeficiency 21 (GATA2)
Allelic: LEOPARD syndrome 1 (PTPN11)
Allelic: Leukemia, acute myeloid, somatic (ETV6)
Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
Allelic: Metachondromatosis (PTPN11)
Allelic: Myelodysplastic syndrome, susceptibility to (GATA2)
Allelic: Neurofibromatosis, familial spinal (NF1)
Allelic: Neurofibromatosis, type 1 (NF1)
Allelic: Neurofibromatosis-Noonan syndrome (NF1)
Allelic: Noonan syndrome 1 (PTPN11)
Allelic: Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
Allelic: Thrombocytopenia 2 (ANKRD26)
Allelic: Thrombocytopenia 5 (ETV6)
Allelic: Watson syndrome (NF1)
Familial platelet disorder with propensity to myeloid malignancy [panelapp] (RUNX1)
Familial predisp to leukaemia, AD [panelapp] (RUNX1)
Juvenile myelomonocytic leukemia (CBL)
Leukemia, juvenile myelomonocytic (NF1)
Leukemia, juvenile myelomonocytic, somatic (PTPN11)
Quantitative + qualitative platelet disorders, propensity to myeloid malignancy [panelapp] (RUNX1)

Heredity, heredity patterns etc.

AD
Gen Fusion

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined