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Two Cases of Neuroblastoma with Genotype–Phenotype Discordance: Clinical Management According to Histological Subtype and N-myc Expression
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  • Yoichi Haga,
  • Atsuko Nakazawa,
  • Chizuko Okamatsu,
  • Hiroyuki Takahashi,
  • Minoru Kuroiwa,
  • Akira Ohara
Yoichi Haga
Toho University Omori Medical Center

Corresponding Author:[email protected]

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Atsuko Nakazawa
Saitama Children's Medical Center
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Chizuko Okamatsu
National Center for Child Health and Development
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Hiroyuki Takahashi
Toho University
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Minoru Kuroiwa
Toho University Omori Medical Center
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Akira Ohara
Toho University
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Abstract

MYCN-amplified neuroblastoma demonstrating favorable histology, which is genotype–phenotype discordant, is extremely rare. This study reports two cases of peripheral neuroblastic tumors with genotype–phenotype discordance: a 3-month-old female and 10-month-old male patients with stage 4S and 2B neuroblastoma, respectively, harboring MYCN-amplification and favorable histology. Immunohistochemical staining was negative for N-myc. Both patients were treated with conventional chemotherapy and 13-cis-retinoic acid without autologous stem-cell rescue, and have been disease-free for 74 and 38 months post-resection, respectively. Nevertheless, chemotherapy could have been optimized on the basis of histological features of the tumors, showing no expression of N-myc.