title: Loss of heterozygosity on chromosome arm 17p in small cell lung carcinomas, but not in neurofibromas, in a patient with von Recklinghausen neurofibromatosis.
abstract: BACKGROUND
  It has been suggested that the genetic abnormality responsible for von Recklinghausen neurofibromatosis (NF1) increases a patient's risk of various kinds of malignancies. The incidence of small cell lung carcinoma (SCLC) as a complication of NF1, however, is rare. To clarify the relationship between NF1 and SCLC, possible loss of heterozygosity of chromosome 17 in a patient with SCLC combined with NF1 was analyzed.
  
  
  METHODS
  Possible loss of heterozygosity for chromosome 17 was analyzed by a molecular genetic approach using several chromosome 17-specific polymorphic DNA markers.
  
  
  RESULTS
  In both primary tumor and metastatic tumors of SCLC, loss of heterozygosity was detected on chromosome arm 17p, but not on 17q. Loss of heterozygosity, however, was detected on neither 17p nor 17q in neurofibromas and normal tissue.
  
  
  CONCLUSIONS
  The formation of SCLC may result from several genetic alterations, including inactivation of tumor-suppressor gene on chromosome 17p, most likely P53, although it still is unknown whether or not a mutation of the NF1 gene on 17q was involved in the development of SCLC in this patient.
authors.affiliation: Third Department of Internal Medicine, University of Tokushima School of Medicine, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Shimizu
authors.forename: T
authors.initials: T
authors.lastname: Shinohara
authors.forename: N
authors.initials: N
authors.lastname: Mori
authors.forename: J
authors.initials: J
authors.lastname: Yokota
authors.forename: K
authors.initials: K
authors.lastname: Tani
authors.forename: K
authors.initials: K
authors.lastname: Izumi
authors.forename: A
authors.initials: A
authors.lastname: Obashi
authors.forename: T
authors.initials: T
authors.lastname: Ogura
mesh_terms: D000483:Alleles; D018288:Carcinoma, Small Cell / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000502:physiology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D012680:Sensitivity and Specificity