English
ErkrankungMultiples Myelom, Suszeptibilität
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel zur Mutationssuche beim Multiples Myelom mit 6 kuratierten Genen (gemäß klinischer Verdachtsdiagnose)
ID
MP0101
Anzahl Gene
6
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,7 kb (Core-/Basis-Gene)
8,3 kb (Erweitertes Panel)
8,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
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, included]
- [Sequelae: Amyloidosis, systemic]
Erbgänge, Vererbungsmuster etc.
- AD und/oder Gen Fusion
- AD und/oder SMu und/oder Sus
- AR und/oder SMu und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C90.0-
Bioinformatik und klinische Interpretation
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