title: Protein profiling of blood samples from patients with hereditary leiomyomatosis and renal cell cancer by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry.
abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an extremely  rare syndrome with autosomal dominant inheritance. HLRCC is characterized by a predisposition to leiomyomas of the skin and the uterus as well as renal cell carcinoma. The disease-related gene has been identified as fumarate hydratase (fumarase, FH), which encodes an enzyme involved in the mitochondrial tricarboxylic acid cycle. Protein profiling may give some insight into the molecular pathways of HLRCC. Therefore, we performed protein profiling of blood samples from HLRCC patients, their family members, and healthy volunteers, using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS) coupled with IMAC-Cu chips. For hierarchical clustering analysis, we used the 45 peaks that revealed significant differences in  single-marker analysis over the range from 1500 to 15,000 m/z. Heat map analysis based on the results of clustering distinguished the HLRCC kindred from non-HLRCC subjects with a sensitivity of 94% and a specificity of 90%. SELDI-TOF MS profiling of blood samples can be applied to identify patients with HLRCC and to assess specific molecular mechanisms involved in this condition.
authors.affiliation: Department of Urology, Dokkyo Medical University, Tochigi 321-0293, Japan. kamait@dokkyomed.ac.jp.
authors.forename: Takao
authors.initials: T
authors.lastname: Kamai
authors.forename: Naohisa
authors.initials: N
authors.lastname: Tomosugi
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Abe
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kaji
authors.forename: Tetsunari
authors.initials: T
authors.lastname: Oyama
authors.forename: Ken-Ichiro
authors.initials: K
authors.lastname: Yoshida
mesh_terms: D000328:Adult; D001706:Biopsy; D001798:Blood Proteins; D016000:Cluster Analysis; D004252:DNA Mutational Analysis; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000378:metabolism; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D009386:Neoplastic Syndromes, Hereditary; D010375:Pedigree; D020543:Proteome; D040901:Proteomics / Q000379:methods; D012372:ROC Curve; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D014057:Tomography, X-Ray Computed; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*
chemical_list: D001798:Blood Proteins; D020543:Proteome; D005649:Fumarate Hydratase