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

Autor: Anelo OM; Department of Pathology, University of Tennessee Health Science Center (UTHSC), Memphis, Tennessee, USA., Ma J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Neary JL; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Koo SC; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Inaba H; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Pinto SN; Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Nguyen NT; Pediatric Oncology Center, Vietnam National Children's Hospital, Hanoi, Vietnam., Hoang TN; Pathology Department, Vietnam National Children's Hospital, Hanoi, Vietnam., Bui LN; Pediatric Oncology Center, Vietnam National Children's Hospital, Hanoi, Vietnam., Klco JM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Gheorghe G; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Jazyk: angličtina
Zdroj: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Jun; Vol. 63 (6), pp. e23251.
DOI: 10.1002/gcc.23251
Abstrakt: 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.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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