English
Klinische FragestellungLeiomyomatose, mit Nierenzell-Karzinom; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Leiomyomatose + Nierenzell-Karzinom mit 5 Leitlinien-kuratierten bzw. zusammen genommen 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP4456
Anzahl Gene
11
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,2 kb (Core-/Core-canditate-Gene)
15,8 kb (Erweitertes Panel: inkl. additional genes)
15,8 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 |
|---|---|---|---|---|
| FH | 1533 | NM_000143.4 | AD, Sus | |
| FLCN | 1740 | NM_144997.7 | AD | |
| MET | 4227 | NM_001127500.3 | AD, Sus | |
| VHL | 642 | NM_000551.4 | AD | |
| BAP1 | 2190 | NM_004656.4 | AD | |
| CCND1 | 888 | NM_053056.3 | AD, Gen Fusion | |
| PRCC | 1476 | NM_005973.5 | Gen Fusion | |
| PTEN | 1212 | NM_000314.8 | AD | |
| SDHB | 843 | NM_003000.3 | AD | |
| SDHC | 510 | NM_003001.5 | AD | |
| SDHD | 480 | NM_003002.4 | AD, AR |
Infos zur Erkrankung
Klinischer Kommentar
Hereditäres Krebssyndrom mit Veranlagung zu kutanen + uterinen Leiomyomen, in einigen Familien zu Nierenzellkrebs
Synonyme
- Alias: FH tumor predisposition syndrome
- Alias: Familial leiomyomatosis + renal cell cancer
- Alias: Familial leiomyomatosis cutis et uteri
- Alias: Familial leiomyomatosis with renal carcinoma
- Alias: Familial multiple cutaneous leiomyomas
- Alias: Hereditary leiomyomatosis
- Alias: Hereditary leiomyomatosis with renal carcinoma (FH)
- Alias: Hereditary multiple cutaneous leiomyomas
- Alias: Multiple cutaneous and uterine leiomyomas
- Allelic: COMMAD syndrome (MITF)
- Allelic: Colorectal cancer, somatic
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Deafness, autosomal recessive 97 (MET)
- Allelic: Erythrocytosis, familial, 2 (VHL)
- Allelic: Gastrointestinal stromal tumor (SDHB)
- Allelic: Gastrointestinal stromal tumor (SDHC)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
- Allelic: Hepatocellular carcinoma, childhood type, somatic (MET)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
- Allelic: Meningioma (PTEN)
- Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
- Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
- Allelic: Osteofibrous dysplasia, susceptibility to (MET)
- Allelic: Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
- Allelic: Paragangliomas 1, with/-out deafness (SDHD)
- Allelic: Paragangliomas 3 (SDHC)
- Allelic: Paragangliomas 4 (SDHB)
- Allelic: Pheochromocytoma (SDHB, SDHD)
- Allelic: Pheochromocytoma, susceptibility to (TMEM127)
- Allelic: Pneumothorax, primary spontaneous (FLCN)
- Allelic: Renal cell carcinoma, somatic (VHL)
- Allelic: Tietz albinism-deafness syndrome (MITF)
- Allelic: Waardenburg syndrome, type 2A (MITF)
- Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
- Allelic: von Hippel-Lindau syndrome (VHL)
- BAP1 tumor predisposition syndrome (BAP1)
- Birt-Hogg-Dubé syndrome (FLCN)
- Pheochromocytoma (VHL)
- Renal carcinoma, chromophobe, somatic (FLCN)
- Renal cell carcinoma [MONDO:0005086] (CDKN2B, MITF, PTEN, SDHB, SDHC, SDHD, TMEM127)
- Renal cell carcinoma, papillary (PRCC)
- Renal cell carcinoma, papillary, 1, familial + somatic (MET)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Gen Fusion
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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