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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.

Keywords

unfavorable histology large cell MYC protein overexpression neuroblastoma

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Rare MYC -amplified Neuroblastoma With Large Cell Histology

Abstract

Background

Methods

Results

Conclusions

Keywords

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References