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Contactin-associated protein-like 2 precursor (Cell recognition molecule Caspr2) [CASPR2] [KIAA0868]


Selective molecular biomarkers to predict biologic behavior in pituitary tumors.

To date, several cell proliferation markers, apoptosis, vascular markers, oncogenes, tumor suppressor genes, cell cycle mediators, microRNA (miRNAs), and long noncoding RNAs (lncRNAs) have been identified to be involved in the tumorigenesis, migration, proliferation and invasiveness of pituitary adenomas. There are still no reliable morphologic markers predictive of pituitary adenoma recurrence. Recent scientific research introduced new techniques to enable us to attain new information on the genesis and biologic behavior of pituitary adenomas. Areas covered: This review covers selected, compelling and cumulative information in regards to TACSTD family (EpCAM, TROP2), neuropilin (NRP-1), oncogene-induced senescence (OIS), fascins (FSCN1), invasion-associated genes (CLDN7, CNTNAP2, ITGA6, JAM3, PTPRC and CTNNA1) EZH2, and ENC1 genes and endocan. Expert commentary: Ongoing research provides clinicians, surgeons and researchers with new information not only on diverse pathways in tumorigenesis but also on the clinical aggressive behavior of pituitary adenomas. Newly developed molecular techniques, bioinformatics and new pharmaceutical drug options are helpful tools to widen the perspectives in our understanding of the complex nature of pituitary tumorigenesis. The discovery of new molecular biomarkers can only be accomplished by continuing to investigate pituitary embryogenesis, histogenesis and tumorigenesis.


  • ENC1 gene
  • EZH2
  • FSCN1
  • TACSTD family (EpCAM
  • TROP2)
  • endocan
  • invasion-associated genes
  • molecular biomarkers
  • neuropilin (NRP-1)
  • oncogene-induced senescence
  • pituitary adenoma

A common copy number variation polymorphism in the CNTNAP2 gene: sexual dimorphism in association with healthy aging and disease.

New therapeutic targets are needed to fight aging-related diseases and increase life span. A new female-specific association with diseases and limited survival past 80 years was recently reported for a copy number variation (CNV) in the CNTNAP4 gene from the neurexin superfamily. We asked whether there are CNVs that are associated with aging phenotypes within other genes from the neurexin superfamily and whether this association is sex specific. Select CNV polymorphisms were genotyped with proprietary TaqMan qPCR assays. A case/control study, in which a group of 81- to 90-year-old community-dwelling Caucasians with no chronic diseases (case) was compared to a similar control group of 65- to 75-year-olds, revealed a negative association with healthy aging for the ins allele of common esv11910 CNV in the CNTNAP2 gene (n = 388; OR = 0.29, 95% CI: 0.14-0.59, p = 0.0004 for males, and OR = 0.82, 95% CI: 0.42-1.57, p = 0.625 for females). This male-specific association was validated in a study of an independent group of 76- to 80-year-olds. To look for a corresponding positive association of the allele with aging-related diseases, two case subgroups of 81- to 90-year-olds, one composed of individuals with cognitive impairment and the other with various diseases not directly related to the nervous system, such as cardiovascular diseases, etc., were compared to a healthy control subgroup of the same age. A positive male-specific association was found for both cases (OR = 2.75, p = 0.008 for association with cognitive impairment, and OR = 3.18, p = 0.002 for other diseases combined). A new male-specific association with aging is reported for a CNV in the CNTNAP2 gene. The polymorphism might be useful for diagnosing individual genetic predispositions to healthy aging versus aging complicated by chronic diseases.

MeSH Terms

  • Aged
  • Aged, 80 and over
  • Aging
  • Case-Control Studies
  • DNA Copy Number Variations
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Longevity
  • Male
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Sex Factors