European Archives of Oto-Rhino-Laryngology

, Volume 269, Issue 8, pp 1967–1971

Metastatic neuroblastoma of the mandible: a cytogenetic and molecular genetic study

  • Esther Manor
  • Joseph Kapelushnik
  • Ben-Zion Joshua
  • Lipa Bodner
Head and Neck

DOI: 10.1007/s00405-011-1863-9

Cite this article as:
Manor, E., Kapelushnik, J., Joshua, BZ. et al. Eur Arch Otorhinolaryngol (2012) 269: 1967. doi:10.1007/s00405-011-1863-9

Abstract

Neuroblastoma (NB) jaw metastases are rare. Here, we report on cytogenetic and genetic studies on metastatic NB to the mandible. A 7-year-old boy, with an abdominal neuroblastoma, presented with a mass of the left body of the mandible. Cytogenetic analysis of the original tumor and the mandibular lesion biopsies revealed similar heterogenous subclones with 42 ~ 47,XY,+der(1)(q11 → qter),−2,del(7)(q21.1 → qter),−8,−9,−10,−11,del(11)(q13.3 → qter),−13,−14,−15,−17, + 18−18,der(18)(?),+21,+m1,+m2,+m3,+m4,+m5,+m6,+m7[cp25]. The different markers were identified by SKY analysis. Most of the cells carried 3–6 of these translocations: der(1;21), der(2;9;17), der(2;15;18), der(2;15;Y), der(8;10), der(10;17). Molecular examination using Neuroblastoma MLPA kit (MRC-Holland) revealed gain of 1q25, 1q42, 2q33, 2p23, 2p24 (N-myc), and 21q22, and loss of 11q22, 11q23, 17p13, and 17q11. FISH analysis using N-myc probe showed high amplification levels of N-myc. The cytogenetic and molecular genetic work-ups revealed that the mandibular lesion is a metastasis of the original abdominal tumor and not a second primary caused by the aggressive treatment. Clinical parameters such as : patient’s age, site of primary tumor and the mandibular metastasis, together with poor prognosis genetic markers explain the patient’s short-term survival.

Keywords

MandibleMedulloblstomaMetastasisCytogeneticsMolecular genetics

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Esther Manor
    • 1
  • Joseph Kapelushnik
    • 2
  • Ben-Zion Joshua
    • 3
  • Lipa Bodner
    • 4
  1. 1.Institute of Human GeneticsSoroka University Medical Center, Ben Gurion University of the NegevBeer-ShevaIsrael
  2. 2.Department of Pediartic Hemato-OncologySoroka University Medical Center, Ben Gurion University of the NegevBeer-ShevaIsrael
  3. 3.Department of Otolaryngology Head and Neck SurgerySoroka University Medical Center, Ben Gurion University of the NegevBeer-ShevaIsrael
  4. 4.Chair, Department of Oral and Maxillofacial SurgerySoroka University Medical Center, Ben Gurion University of the NegevBeer-ShevaIsrael