Klinische FragestellungLeiomyomatose, mit Nierenzell-Karzinom; Differentialdiagnose

NGS +

[Sanger]

Hereditäres Krebssyndrom mit Veranlagung zu kutanen + uterinen Leiomyomen, in einigen Familien zu Nierenzellkrebs

• 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)