title: Metastatic neuroblastoma of the mandible: a cytogenetic and molecular genetic study.
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.
authors: Institute of Human Genetics, Soroka University Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel.
authors: Esther
authors: E
authors: Manor
authors: Joseph
authors: J
authors: Kapelushnik
authors: Ben-Zion
authors: BZ
authors: Joshua
authors: Lipa
authors: L
authors: Bodner
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D020732:Cytogenetic Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008339:Mandibular Neoplasms / Q000235:genetics / Q000556:secondary; D009447:Neuroblastoma / Q000235:genetics / Q000556:secondary; D014178:Translocation, Genetic