Rare MYC-amplified Neuroblastoma With Large Cell Histology. (September 2018)

• Record Type: Journal Article
• Authors: Matsuno, Ryosuke; Gifford, Andrew J; Fang, Junming; Warren, Mikako; Lukeis, Robyn E; Trahair, Toby; Sugimoto, Tohru; Marachelian, Araz; Asgharzadeh, Shahab; Maris, John M; Ikegaki, Naohiko; Shimada, Hiroyuki
• Is Part Of: Pediatric and developmental pathology. Volume 21:Number 5(2018)
• Page Start: 461
• Page End: 466
• Publication Date: 2018-09
• Subjects: MYC amplification -- unfavorable histology -- large cell -- MYC protein overexpression -- neuroblastoma -- no MYCN amplification; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.1177/1093526617749670
• Languages: English
• ISSNs: 1093-5266

Abstract

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.