ErkrankungRhabdomyosarkom, familiär; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Rhabdomyosarkom, familiär, mit 10 bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
RP1526
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,7 kb (Core-/Basis-Gene)
39,9 kb (Erweitertes Panel)
39,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
BUB1B | 3153 | AD und/oder AR und/oder Sus | |
CDKN1C | 951 | AD und/oder Sus | |
HRAS | 570 | AD und/oder SMu und/oder Sus | |
MLH1 | 2271 | AD und/oder AR und/oder Sus | |
MSH2 | 2805 | AD und/oder AR und/oder Sus | |
MSH6 | 4083 | AD und/oder AR und/oder Sus | |
NBN | 2265 | AR und/oder Ass | |
PMS2 | 2589 | AR und/oder Sus | |
RB1 | 2787 | AD und/oder Sus | |
TP53 | 1182 | AD und/oder SMu und/oder Sus | |
DICER1 | 5769 | AD und/oder Sus | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
PAX3 | 1440 | AD und/oder AR und/oder SMu und/oder Gen Fusion | |
PAX7 | 1563 | SMu und/oder Gen Fusion |
Infos zur Erkrankung
Klinischer Kommentar
Bösartiger Weichteiltumor entwickelt sich aus quergestreiften Muskelzellen; die häufigste Form des Tumors bei Kindern + Jugendlichen
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR und/oder SMu und/oder Gen Fusion
- AD und/oder AR und/oder Sus
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR und/oder Ass
- AR und/oder Sus
- SMu und/oder Gen Fusion
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C76.-
Bioinformatik und klinische Interpretation
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