Open AccessRare MYC-amplified Neuroblastoma With Large Cell Histology
Author(s) -
Ryosuke Matsuno,
Andrew J. Gifford,
Junming Fang,
Mikako Warren,
Robyn Lukeis,
Toby N. Trahair,
Tohru Sugimoto,
Araz Marachelian,
Shahab Asgharzadeh,
John M. Maris,
Naohiko Ikegaki,
Hiroyuki Shimada
Publication year - 2018
Publication title -
pediatric and developmental pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.477
H-Index - 60
eISSN - 1615-5742
pISSN - 1093-5266
DOI - 10.1177/1093526617749670
Subject(s) - histology , neuroblastoma , pathology , biology , medicine , cancer research , cell culture , genetics
Background Although MYCN (aka N-myc) amplification is reported in ∼20% of neuroblastomas, MYC (aka C-myc) amplification appears to be a rare event in this disease. As of today, only 2 MYC-amplified neuroblastomas have been briefly mentioned in the literature. Methods We studied here the clinicopathological features of 3 MYC-amplified neuroblastomas. Results All 3 patients (2 females and 1 male) had stage 4 disease. One female is currently alive and well 52 months after the diagnosis, while the other female and male patients died of disease 24 and 20 months after the diagnosis, respectively. Further analysis on 2 tumors revealed unfavorable histology with MYC protein overexpression but with neither MYCN amplification nor MYCN protein overexpression. Both of these tumors exhibited "large cell neuroblastoma" histology with enlarged, uniquely open nuclei and nucleolar hypertrophy, along with "aberrant" desmin expression. Conclusions MYC-amplified neuroblastomas are extremely rare and seem to present with distinct clinicopathological features.