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

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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.

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Authors and Affiliations

  1. Institute of Human Genetics, Soroka University Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel

    Esther Manor

  2. Department of Pediartic Hemato-Oncology, Soroka University Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel

    Joseph Kapelushnik

  3. Department of Otolaryngology Head and Neck Surgery, Soroka University Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel

    Ben-Zion Joshua

  4. Chair, Department of Oral and Maxillofacial Surgery, Soroka University Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel

    Lipa Bodner

Authors
  1. Esther Manor
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  2. Joseph Kapelushnik
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  3. Ben-Zion Joshua
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  4. Lipa Bodner
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Correspondence to Lipa Bodner.

Additional information

Accepted for presentation at the 3rd World Congress of International Academy of Oral Oncology, Singapore, 14–17, July, 2011.

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Manor, E., Kapelushnik, J., Joshua, BZ. et al. Metastatic neuroblastoma of the mandible: a cytogenetic and molecular genetic study. Eur Arch Otorhinolaryngol 269, 1967–1971 (2012). https://doi.org/10.1007/s00405-011-1863-9

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  • DOI: https://doi.org/10.1007/s00405-011-1863-9

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