Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion

ABSTRACT Erythroid sarcoma (ES) is exceedingly rare in the pediatric population with only a handful of reports of de novo cases, mostly occurring in the central nervous system (CNS) or orbit. It is clinically and pathologically challenging and can masquerade as a nonhematopoietic small round blue ce...

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Published in:Genes chromosomes & cancer Vol. 63; no. 6; pp. e23251 - n/a
Main Authors: Anelo, Obianuju Mercy, Ma, Jing, Neary, Jennifer L., Koo, Selene C., Inaba, Hiroto, Pinto, Soniya N., Nguyen, Nga Thi, Hoang, Thach Ngoc, Bui, Lan Ngoc, Klco, Jeffery M., Gheorghe, Gabriela, Blackburn, Patrick R.
Format: Journal Article
Language:English
Published: Hoboken, USA John Wiley & Sons, Inc 01.06.2024
Wiley Subscription Services, Inc
Subjects:
acute erythroid leukemia (AEL)
Biopsy
Bone mass
Central nervous system
Diagnosis
erythroid sarcoma (ES)
Female
Gene expression
Gene fusion
Humans
Infant
NFI Transcription Factors - genetics
NFIA::CBFA2T3
Oncogene Proteins, Fusion - genetics
Pediatrics
pure erythroid leukemia (PEL)
Repressor Proteins
RNA‐sequencing
Sarcoma
Sarcoma - diagnosis
Sarcoma - genetics
Sarcoma - pathology
Tumors
acute erythroid leukemia (AEL)
pure erythroid leukemia (PEL)
NFIA::CBFA2T3
erythroid sarcoma (ES)
RNA‐sequencing
ISSN:1045-2257, 1098-2264, 1098-2264
Online Access:Get full text
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Summary:ABSTRACT Erythroid sarcoma (ES) is exceedingly rare in the pediatric population with only a handful of reports of de novo cases, mostly occurring in the central nervous system (CNS) or orbit. It is clinically and pathologically challenging and can masquerade as a nonhematopoietic small round blue cell tumor. Clinical presentation of ES without bone marrow involvement makes diagnosis particularly difficult. We describe a 22‐month‐old female with ES who presented with a 2‐cm mass involving the left parotid region and CNS. The presence of crush/fixation artifact from the initial biopsy made definitive classification of this highly proliferative and malignant neoplasm challenging despite an extensive immunohistochemical workup. Molecular studies including RNA‐sequencing revealed a NFIA::CBFA2T3 fusion. This fusion has been identified in several cases of de novo acute erythroid leukemia (AEL) and gene expression analysis comparing this case to other AELs revealed a similar transcriptional profile. Given the diagnostically challenging nature of this tumor, clinical RNA‐sequencing was essential for establishing a diagnosis.
Bibliography:The authors received no specific funding for this work.
Funding
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ISSN:1045-2257
1098-2264
1098-2264
DOI:10.1002/gcc.23251