Loss of heterozygosity for chromosome 14q in neuroblastoma

Background Neuroblastoma is a genetically heterogeneous disease, with subse ts of tumors demonstrating rearrangements of several genomic regions. Preli minary studies from several groups have identified loss of heterozygosity ( LOH) for the long arm of chromosome 14 (14q) in 20-25% of primary neuroblas tomas. Procedure. To determine precisely the frequency and extent of 14q de letions, we performed LOH analysis for a large series of primary neuroblast omas using a panel of 11 ighly polymorphic markers. Results. LOH was detect ed in 83 of 372 tumors (22%). Although the majority of tumors with allelic loss demonstrated allelic loss for all informative markers, 13 cases showed LOH for only 3 portion of 14q. A single consensus region of deletion, whic h was shared by all tumors with 14q LOM, was defined within 14q23-q32 betwe en D14S588 and the 14q telomere. Allelic loss for 14q was strongly correlat ed with the presence of 11q LOH (P < 0.001) and inversely correlated with M YCN amplification (P = 0.04). Conclusions. LOH for 14q was evident in all c linical risk groups, indicating that this abnormality may be a universal fe ature of neuroblastoma tumor development. These findings suggest that a tum or suppressor gene involved in the initiation or progression of neuroblasto ma is located within distal 14q. Med. Pediatr. Oncol. 31:28-31, 2001. (C) 2 001 Wiley-Liss. Inc.