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

Esther Manor, Joseph Kapelushnik, Ben Zion Joshua, Lipa Bodner

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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.

Original languageEnglish
Pages (from-to)1967-1971
Number of pages5
JournalEuropean Archives of Oto-Rhino-Laryngology
Issue number8
StatePublished - 1 Aug 2012
Externally publishedYes


  • Cytogenetics
  • Mandible
  • Medulloblstoma
  • Metastasis
  • Molecular genetics

ASJC Scopus subject areas

  • Otorhinolaryngology


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