Child's Nervous System

, Volume 34, Issue 5, pp 877–882 | Cite as

Heightened CXCR4 and CXCL12 expression in NF1-associated neurofibromas

  • Beren Karaosmanoglu
  • Çetin Y. Kocaefe
  • Figen Söylemezoğlu
  • Banu Anlar
  • Ali Varan
  • İbrahim Vargel
  • Sükriye Ayter
Original Paper



Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder that affects both the skin and the nervous system. NF1 occurs due to the mutations in the NF1 gene. Neurofibromas are the most common Schwann cell-based tumors in NF1 patients, which are mainly categorized into dermal and plexiform neurofibromas. Studies on different tumor types demonstrate that CXCR4 expression increases in tumor tissues and is linked to metastasis and cancer progression.


In the present study, we aimed to analyze the gene expression of CXCR4, and its ligand CXCL12, in human neurofibromas.


Eight NF1 patients aged between 5 and 37 (2 males, 6 females) were selected. The patient group comprised 1 plexiform neurofibroma, 1 pheochromocytoma, and 6 dermal neurofibromas. Following pathological examination and diagnosis, tumors were co-stained with antibodies against Schwann cell marker S100 and target molecule CXCR4. CXCR4 expression in Schwann cell-based tumors was detected at the protein level. RNA isolated from the same tumors was used for RT-PCR-based studies to measure the quantitative expression of CXCR4 and CXCL12.


CXCR4 gene expression increased 3- to 120-fold and CXCL12 gene expression increased 33- to 512-fold in all human Schwann cell-based tumors.


In order to validate the role of CXCR4 and its relationship with CXCL12 in NF1, future studies should be performed with additional tumors and different tumor types.


Neurofibromatosis type 1 Neurofibroma Plexiform neurofibroma CXCR4 CXCL12 



The authors would like to thank all families who participated in this work.

Funding information

This study was supported by the Hacettepe University Scientific Research Foundation (06 01 101 021).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Beren Karaosmanoglu
    • 1
  • Çetin Y. Kocaefe
    • 1
  • Figen Söylemezoğlu
    • 2
  • Banu Anlar
    • 3
  • Ali Varan
    • 4
  • İbrahim Vargel
    • 5
  • Sükriye Ayter
    • 6
  1. 1.Department of Medical BiologyHacettepe University Faculty of MedicineAnkaraTurkey
  2. 2.Department of PathologyHacettepe University Faculty of MedicineAnkaraTurkey
  3. 3.Department of Pediatric NeurologyHacettepe University Faculty of MedicineAnkaraTurkey
  4. 4.Department of Pediatric OncologyHacettepe University Faculty of MedicineAnkaraTurkey
  5. 5.Department of Plastic Surgery and Reconstructive and Aesthetic SurgeryHacettepe University Faculty of MedicineAnkaraTurkey
  6. 6.Department of Medical Biology and Genetics, Faculty of MedicineTOBB University of Economics and TechnologyAnkaraTurkey

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