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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Vydáno v:Genes chromosomes & cancer Ročník 63; číslo 6; s. e23251 - n/a
Hlavní autoři: 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.
Médium: Journal Article
Jazyk:angličtina
Vydáno: Hoboken, USA John Wiley & Sons, Inc 01.06.2024
Wiley Subscription Services, Inc
Témata:
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
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Abstract 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.
AbstractList 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.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.
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.
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.
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.
Author Ma, Jing
Inaba, Hiroto
Blackburn, Patrick R.
Anelo, Obianuju Mercy
Gheorghe, Gabriela
Klco, Jeffery M.
Koo, Selene C.
Neary, Jennifer L.
Nguyen, Nga Thi
Pinto, Soniya N.
Hoang, Thach Ngoc
Bui, Lan Ngoc
Author_xml – sequence: 1
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/38884198$$D View this record in MEDLINE/PubMed
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CitedBy_id crossref_primary_10_1016_j_mpdhp_2025_07_001
crossref_primary_10_1016_j_modpat_2025_100716
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Issue 6
Keywords acute erythroid leukemia (AEL)
pure erythroid leukemia (PEL)
NFIA::CBFA2T3
erythroid sarcoma (ES)
RNA‐sequencing
Language English
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Snippet 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...
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...
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StartPage e23251
SubjectTerms 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
Title Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fgcc.23251
https://www.ncbi.nlm.nih.gov/pubmed/38884198
https://www.proquest.com/docview/3072220270
https://www.proquest.com/docview/3069175202
Volume 63
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