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Disomy 1 with terminal 1 p deletion is frequent in mass‐screening‐negative/late‐presenting neuroblastomas in young children, but not in mass‐screening‐positive neuroblastomas in infants
Author(s) -
Kaneko Yasuhiko,
Kobayashi Hirofumi,
Maseki Nobuo,
Nakagawara Akira,
Sakurai Masaharu
Publication year - 1999
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19990105)80:1<54::aid-ijc11>3.0.co;2-g
Subject(s) - tetrasomy , neuroblastoma , trisomy , population , biology , gastroenterology , aneuploidy , chromosome , medicine , pathology , genetics , environmental health , gene , cell culture
The mass screening (MS) of neuroblastoma has been undertaken in Japan by measuring urinary catecholamine metabolites in infants at the age of 6 months. To clarify the biological characteristics of MS‐positive (MS + ) tumors in infants and MS‐negative (MS − )/late‐presenting tumors in young children, metaphase cytogenetic and/or interphase 2‐color FISH analyses using terminal 1p and pericentromeric 1q probes were performed on 246 (186 MS + and 60 MS − ) patients with neuroblastomas. The 246 tumors were classified into 4 groups on the basis of the constitution of chromosome 1; 22 tumors had disomy 1 with no 1p deletion (Dis1Norm1p); 41 tumors had disomy 1 or tetrasomy 1, all with the 1p deletion (Dis1Del1p); 164 tumors had trisomy 1, pentasomy 1, or a mixed population of cells with trisomy 1 and cells with tetrasomy 1, none with 1p deletion (Tris1Norm1p); 19 tumors with the same copy numbers of chromosome 1 as the Tris1Norm1p group, had 1p deletion (Tris1Del1p). mycn amplification was absent in the Dis1Norm1p and Tris1Del1p groups, frequent in the Dis1Del1p group (24/41), and rare in the Tris1Norm1p group (3/164) ( p < 0.0001). Event‐free survival at 5 years was lowest [19.5%; 95% confidence interval (CI), 5.1–33.9] in the Dis1Del1p group, highest in the Tris1Norm1p (96.3%; 95% CI, 93.5–99.2) and Tris1Del1p (94.7%; 95% CI, 84.7–104.8) groups, and intermediate but varied (54.5%; 95% CI, 33.7–75.4) in the Dis1Norm1p group ( p < 0.0001). Of the MS + tumors, 90% were Tris1Norm1p or Tris1Del1p, and 55% of the MS − tumors were Dis1Del1p. The finding that the Dis1Del1p tumors were frequent in MS − but not in MS + tumors suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma. Int. J. Cancer 80:54–59, 1999. © 1999 Wiley‐Liss, Inc.