Klinische FragestellungMultiples Myelom, Suszeptibilität

NGS +

[Sanger]

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

• 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]