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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLeiomyomatosis, + renal cell cancer; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Leiomyomatosis, + renal cell cancer, comprising 5 guideline-curated genes and altogether 14 curated genes according to the clinical signs

ID
LP4456
Number of genes
7 Accredited laboratory test
Examined sequence length
8,2 kb (Core-/Core-canditate-Genes)
12,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
FH1533AD, Sus
FLCN1740AD
MET4227AD, Sus
VHL642AD
BAP12190AD
CCND1888AD, Gen Fusion
PRCC1476Gen Fusion

Informations about the disease

Clinical Comment

Hereditary cancer syndrome with predisposition to cutaneous + uterine leiomyomas, in some families, to renal cell cancer

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • Gen Fusion
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D25.9

Bioinformatics and clinical interpretation

No text defined