IllnessMorbus Waldenstrom, mutations + predisposition

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Waldenström comprising 5 or altogether 9 curated genes according to the clinical signs

MP0860

Number of genes

7 Accredited laboratory test

Examined sequence length

2,0 kb (Core-/Core-canditate-Genes)
15,5 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
CXCR4	1059	162643	NM_003467.3	AD
MYD88	891	602170	NM_002468.5	SMu
ARID1A	6858	603024	NM_006015.6	AD
CCND1	888	168461	NM_053056.3	AD, Gen Fusion, Sus
CD79B	690	147245	NM_000626.4	SMu, Sus
LIG4	2736	601837	NM_002312.3	AR
TNFAIP3	2373	191163	NM_001270507.2	AD, SMu

Informations about the disease

Clinical Comment

Indolent B-cell lymphoproliferation, accumulation of monoclonal cells in bone marrow + peripheral lymphoid tissues, associated with serum IgM monoclonal protein

Synonyms

DD: Monoclonal gammopathy of undetermined significance, MGUS
Alias: Lymphoplasmacytic infiltration of bone marrow; hypersecretion IgM
Alias: Lymphoplasmozytisches Lymphom
Alias: Malignant B-cell neoplasm
Alias: Waldenström macroglobulinemia
Allelic: Agammaglobulinemia 3 (CD79A)
Allelic: Agammaglobulinemia 6 (CD79B)
Allelic: Autoinflammatory syndrome, familial, Behcet-like (TNFAIP3)
Allelic: Coffin-Siris syndrome 2 (ARID1A)
Allelic: Colorectal cancer, susceptibility to (CCND1)
Allelic: Defects in intrinsic + innate immunity [panelapp] (CXCR4, MYD88)
Allelic: Defects of TLR/NFkappa-B signalling [panelapp] (MYD88)
Allelic: Immunodeficiency 68 (MYD88)
Allelic: Kabuki syndrome 1 (KMT2D)
Allelic: LIG4 syndrome [Nijmegen breakage syndrome like] (LIG4)
Allelic: Pyogenic bacterial infections, recurrent, due to MYD88 deficiency (MYD88)
Allelic: Recurrent pyogenic bacterial infection [panelapp] (MYD88)
Allelic: WHIM syndrome [Warts, Hypogammaglobulinemia, Infections, Myelokathexis] (CXCR4)
Allelic: von Hippel-Lindau syndrome, modifier of (CCND1)
Macroglobulinemia, Waldenstrom, somatic (MYD88)
Macroglobulinemia, Waldenstrom, susceptibility to 1 (MYD88)
Multiple myeloma, resistance to (LIG4)
Multiple myeloma, susceptibility to (CCND1)
Myelokathexis, isolated (CXCR4)

Heredity, heredity patterns etc.

AD
AR
Gen Fusion
SMu
Sus

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined