Pediatric erythroblastic sarcoma/pure erythroid leukemia with NFIA-CBFA2T3 translocation: Report of two cases, including a case with TP53 mutation, and review of the literature

Pure erythroid leukemia is a rare neoplasm that occurs predominantly in adults, mostly as secondary to cytotoxic chemotherapy and frequently with biallelicTP53abnormalities. Reports in pediatric patients are even rarer and show neoplasm arising “de novo”, frequent extramedullary sarcomatous presenta...

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Published in:Human Pathology Reports Vol. 42; p. 300803
Main Authors: Cardoni, Antonello, Rogges, Evelina, Rossi, Sabrina, Vito, Rita De, Rullo, Emma, Vallese, Silvia, Barresi, Sabina, Giovannoni, Isabella, Tancredi, Chantal, Alesi, Viola, Coulomb, Aurore, Ceolin, Valeria, Saglio, Francesco, Leone, Marco, Fagioli, Franca, Louet, Solenne Le, Petit, Arnaud, Boudjemaa, Sabah, Alaggio, Rita
Format: Journal Article
Language:English
Published: Elsevier Inc 01.11.2025
Subjects:
Erythroid leukemia
Erythroid sarcoma
NFIA::CBFA2T3
Pathology
Pediatric
TP53
NFIA::CBFA2T3
Pediatric
TP53
Erythroid sarcoma
Erythroid leukemia
ISSN:2772-736X, 2772-736X
Online Access:Get full text
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Summary:Pure erythroid leukemia is a rare neoplasm that occurs predominantly in adults, mostly as secondary to cytotoxic chemotherapy and frequently with biallelicTP53abnormalities. Reports in pediatric patients are even rarer and show neoplasm arising “de novo”, frequent extramedullary sarcomatous presentation and a different molecular profile from the adult counterpart, including frequent gene fusions and no evidence of biallelic TP53 alterations. We describe two cases of pediatric erythroid leukemia / sarcoma with the NFIA::CBFA2T3 fusion, one of which harbored a TP53 mutation,with a review of the literature of pediatric cases with the same fusion and with the analogous NFIA::CBFA2T1 fusion.
ISSN:2772-736X
2772-736X
DOI:10.1016/j.hpr.2025.300803