{"id":21270,"date":"2024-01-24T15:19:28","date_gmt":"2024-01-24T14:19:28","guid":{"rendered":"https:\/\/www.fennerlabor.de\/klinische-chemie\/li-fraumeni-syndrom-tp53-gen\/"},"modified":"2024-01-24T15:19:30","modified_gmt":"2024-01-24T14:19:30","slug":"li-fraumeni-syndrom-tp53-gen","status":"publish","type":"lab_clinical_che","link":"https:\/\/www.fennerlabor.de\/klinische-chemie\/li-fraumeni-syndrom-tp53-gen\/","title":{"rendered":"Li-Fraumeni Syndrom (TP53-Gen)"},"template":"","meta":{"_acf_changed":false},"acf":{"synonyms":"LFS, MIM#151623 AD, SBLA Syndrom (Sarkom, Brust, Leuk\u00e4mie und Adrenal Gland)","parameter":"","sample_material":"ca. 5 ml EDTA-Vollblut, DNA","tube":"","preanalytics":"Zur Vermeidung einer Kontamination der Probe bitte ein separates Probenr\u00f6hrchen einsenden !","implementation_notes":"","sample_transport":"Postversand m\u00f6glich","references":"","clinical_indications":"u.a. fr\u00fch manifeste, h\u00e4ufig aggressive Karzinomerkrankungen, u.a. ZNS, Mamma, Kolon, Schilddr\u00fcse, Lymphome und Leuk\u00e4mien, Sarkome","method":"Next Generation Sequencing - Qualit\u00e4tsstufe A, MLPA, ggf. Sangersequenzierung. TP53-Gen Exon 2-11 (\u00b1 angrenzende IVS)","approach_days":"Mo - Fr (in dringenden F\u00e4llen bitte R\u00fccksprache\/Anfrage), Untersuchungsdauer circa 4 Wochen","reference_ranges":"","source_reference_ranges":"","notes":"Das Li-Fraumeni-Syndrom (LFS; MIM#151623) ist eine autosomal-dominant vererbbare Tumorerkrankung. Als mit LFS vergesellschaftete Tumore gelten Weichteilsarkome, Brustkrebs, Knochensarkome, Leuk\u00e4mien, Astrozytome, Plexuskarzinome und Karzinome der Nebennierenrinde. In betroffenen Familien wurde auch ein erh\u00f6htes Auftreten von Lungenkrebs, Tumoren des Magens und Darms, Eierstockkrebs und Lymphomen beobachtet. In etwa 70% der F\u00e4lle findet sich eine urs\u00e4chliche Mutation im f\u00fcr das p53-Protein kodierenden Tumorsupressor-Gen TP53 (MIM191170; 17p13.1) DD. (unter den 30% ohne TP53 Mutation) sollte das mit CHEK2-Gen (MIM*604373) Mutationen einhergehende Li-Fraumeni-Syndrom 2 (LFS2; MIM#609265) ber\u00fccksichtigt werden. Ein weiterer Lokus (LFS3; MIM#609266) wurde k\u00fcrzlich auf 1q23 kartiert.","cross_references":"Li-Fraumeni Syndrom (CHEK-2 Gen)\nHumangenetische Untersuchungen","comments":"","additional_claims":"","increased_values":"","decreased_values":"","loinc_number":"","accounting_ebm":"","billing_goa":"","accreditation":"Nein","fennerlabor_department":"Sequenzierung","internal_laboratory_edp_id":"","external_laboratories":"","internal_remarks":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Li-Fraumeni Syndrom (TP53-Gen) - Labor Dr. Fenner &amp; Kollegen MVZ<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.fennerlabor.de\/klinische-chemie\/li-fraumeni-syndrom-tp53-gen\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Li-Fraumeni Syndrom (TP53-Gen) - Labor Dr. Fenner &amp; 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