ErkrankungRhabdomyosarkom, familiär; Differentialdiagnose

NGS +

[Sanger]

Bösartiger Weichteiltumor entwickelt sich aus quergestreiften Muskelzellen; die häufigste Form des Tumors bei Kindern + Jugendlichen

• Adrenocortical carcinoma, pediatric (TP53)
• Alias: Familial rhabdomyosarcoma
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bladder cancer, somatic (HRAS, RB1)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Allelic: Colorectal cancer, somatic (BUB1B)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Costello syndrome (HRAS)
• Allelic: Craniofacial-deafness-hand syndrome (PAX3)
• Allelic: Denys-Drash syndrome (WT1)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: GLOW syndrome, somatic mosaic (DICER1)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: IMAGE syndrome (CDKN1C)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Meacham syndrome (WT1)
• Allelic: Mesothelioma, somatic (WT1)
• Allelic: Muir-Torre syndrome (MLH1, MSH2)
• Allelic: Myopathy, congenital, progressive, with scoliosis (PAX7)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
• Allelic: Osteosarcoma (TP53)
• Allelic: Osteosarcoma, somatic (RB1)
• Allelic: Pancreatic cancer, somatic (TP53)
• Allelic: Pleuropulmonary blastoma (DICER1)
• Allelic: Premature chromatid separation trait (BUB1B)
• Allelic: Retinoblastoma, trilateral (RB1)
• Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS)
• Allelic: Small cell cancer of the lung, somatic (RB1)
• Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
• Allelic: Thyroid carcinoma, follicular, somatic (HRAS)
• Allelic: Waardenburg syndrome, type 1 + 3 (PAX3)
• Allelic: Watson syndrome (NF1)
• Allelic: Wilms tumor, type 1 (WT1)
• Aplastic anemia (NBN)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Frasier syndrome (WT1)
• Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Mosaic variegated aneuploidy syndrome (BUB1B)
• Neurofibromatosis, type 1 (NF1)
• Nijmegen breakage syndrome (NBN)
• Retinoblastoma (RB1)
• Rhabdomyosarcoma 2, alveolar (PAX3, PAX7)
• Rhabdomyosarcoma, alveolar (FOXO1)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)