Klinische FragestellungMultiples Myelom, Suszeptibilität

Zusammenfassung

Kurzinformation

Umfassendes panel zur Suszeptibilitätanalyse/Mutationssuche beim Multiplen Myelom mit 4 kuratierten Genen gemäß klinischer Verdachtsdiagnose

MP0101

Anzahl Gene

4 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

3,7 kb (Core-/Core-canditate-Gene)
4,8 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

[Sanger]

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
CCND1	888	168461	NM_053056.3	AD, Gen Fusion
LIG4	2736	601837	NM_002312.3	AR
KRAS	567	190070	NM_004985.5	AD
NRAS	570	164790	NM_002524.5	AD, Sus

Infos zur Erkrankung

Klinischer Kommentar

Bösartiger Tumor der Plasmazelle mit Überproduktion von abnormalen Plasmazellen im Knochenmark + Skelettzerstörung. Die klinischen Merkmale sind Knochenschmerzen, Niereninsuffizienz, Immunschwäche, Anämie + Vorhandensein abnormaler Igs.

Synonyme

Alias: Medullary plasmacytoma
Alias: Myelomatosis, Morbus Kahler
Alias: Plasma cell myeloma
Allelic: Adenocarcinoma of lung, somatic (BRAF)
Allelic: Adrenocortical carcinoma, pediatric (TP53)
Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
Allelic: Basal cell carcinoma 7 (TP53)
Allelic: Bladder cancer, somatic (KRAS)
Allelic: Breast cancer, somatic (KRAS)
Allelic: Breast cancer, somatic (TP53)
Allelic: Cardiofaciocutaneous syndrome (BRAF)
Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
Allelic: Choroid plexus papilloma (TP53)
Allelic: Colorectal cancer (TP53)
Allelic: Colorectal cancer, somatic (BRAF, NRAS)
Allelic: Colorectal cancer, susceptibility to (CCND1)
Allelic: Epidermal nevus, somatic (NRAS)
Allelic: Gastric cancer, somatic (KRAS)
Allelic: Glioma susceptibility 1 (TP53)
Allelic: Hepatocellular carcinoma, somatic (TP53)
Allelic: LEOPARD syndrome 3 (BRAF)
Allelic: LIG4 syndrome [Nijmegen breakage like syndrome] (LIG4)
Allelic: Leukemia, acute myeloid, somatic (KRAS)
Allelic: Li-Fraumeni syndrome (TP53)
Allelic: Lung cancer, somatic (KRAS)
Allelic: Melanocytic nevus syndrome, congenital, somatic (NRAS)
Allelic: Melanoma, malignant, somatic (BRAF)
Allelic: Nasopharyngeal carcinoma, somatic (TP53)
Allelic: Neurocutaneous melanosis, somatic (NRAS)
Allelic: Nonsmall cell lung cancer, somatic (BRAF)
Allelic: Noonan syndrome 3 (KRAS)
Allelic: Noonan syndrome 6 (NRAS)
Allelic: Noonan syndrome 7 (BRAF)
Allelic: Oculoectodermal syndrome, somatic (KRAS)
Allelic: Osteosarcoma (TP53)
Allelic: Pancreatic cancer, somatic (TP53)
Allelic: Pancreatic carcinoma, somatic (KRAS)
Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS, NRAS)
Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
Allelic: von Hippel-Lindau syndrome, modifier of (CCND1)
Multiple myeloma, resistance to (LIG4)
Multiple myeloma, susceptibility to (CCND1)
[Cancer driver genes partially included]
[Sequelae: Amyloidosis, systemic]

Erbgänge, Vererbungsmuster etc.

AD
AR
Gen Fusion
Sus

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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