title: Combined point mutation in KRAS or EGFR genes and EML4-ALK translocation in lung cancer patients.
abstract: A total of three cases with novel constellations regarding mutation patterns in non-small-cell lung cancer (NSCLC) are reported. The mutation patterns that are observed are novel and unexpected. First, a combined simultaneous KRAS mutation and EML4-ALK translocation, both in the main tumor and a bone metastasis, were observed, these mutations are assumed to mutually exclude each other. A further two cases include a father and a daughter, both of whom are suffering from NSCLC with different EGFR mutation patterns. A common cause was assumed; however, could not be deduced to mutations in the KRAS, BRAF and EGFR genes. The aforementioned cases are important, as it must be taken into account that mutations previously assumed to be exclusive can occur in combination, may influence the clinical outcome and may require different therapy compared with single mutated tumors. It has to be discussed whether diagnostic algorithms need to be adapted. The cases of father and daughter show that further unknown factors can influence development of NSCLC.
authors.affiliation: Lungenklinik, Kliniken der Stadt Köln gGmbH, Klinikum der Privaten Universität Witten Herdecke mit Sitz in Köln.
authors.forename: Jessica
authors.initials: J
authors.lastname: Jürgens
authors.forename: Walburga
authors.initials: W
authors.lastname: Engel-Riedel
authors.forename: Alexander
authors.initials: A
authors.lastname: Prickartz
authors.forename: Corinna
authors.initials: C
authors.lastname: Ludwig
authors.forename: Oliver
authors.initials: O
authors.lastname: Schildgen
authors.forename: Ramona-Liza
authors.initials: RL
authors.lastname: Tillmann
authors.forename: Erich
authors.initials: E
authors.lastname: Stoelben
authors.forename: Michael
authors.initials: M
authors.lastname: Brockmann
authors.forename: Verena
authors.initials: V
authors.lastname: Schildgen
mesh_terms: D000328:Adult; D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D066246:ErbB Receptors / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D014178:Translocation, Genetic; D016896:Treatment Outcome; D018631:ras Proteins / Q000235:genetics*
chemical_list: C522504:EML4-ALK fusion protein, human; C117307:KRAS protein, human; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D066246:ErbB Receptors; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins