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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| Vydáno v: | Human Pathology Reports Ročník 42; s. 300803 |
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01.11.2025
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| ISSN: | 2772-736X, 2772-736X |
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| Abstract | 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. |
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| AbstractList | AbstractPure erythroid leukemia is a rare neoplasm that occurs predominantly in adults, mostly as secondary to cytotoxic chemotherapy and frequently with biallelic TP53abnormalities. 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. 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. |
| ArticleNumber | 300803 |
| Author | Cardoni, Antonello Rullo, Emma Tancredi, Chantal Coulomb, Aurore Barresi, Sabina Vito, Rita De Giovannoni, Isabella Louet, Solenne Le Fagioli, Franca Alesi, Viola Rossi, Sabrina Leone, Marco Rogges, Evelina Saglio, Francesco Boudjemaa, Sabah Alaggio, Rita Petit, Arnaud Ceolin, Valeria Vallese, Silvia |
| Author_xml | – sequence: 1 givenname: Antonello orcidid: 0000-0003-3468-0473 surname: Cardoni fullname: Cardoni, Antonello email: antonello.cardoni@opbg.net organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 2 givenname: Evelina surname: Rogges fullname: Rogges, Evelina organization: School in Translational Medicine and Oncology, Department of Medical and Surgical Sciences and Translational Medicine, Faculty of Medicine and Psicology, Sapienza University of Rome, Rome, Italy – sequence: 3 givenname: Sabrina surname: Rossi fullname: Rossi, Sabrina organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 4 givenname: Rita De surname: Vito fullname: Vito, Rita De organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 5 givenname: Emma surname: Rullo fullname: Rullo, Emma organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 6 givenname: Silvia surname: Vallese fullname: Vallese, Silvia organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 7 givenname: Sabina surname: Barresi fullname: Barresi, Sabina organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 8 givenname: Isabella surname: Giovannoni fullname: Giovannoni, Isabella organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 9 givenname: Chantal surname: Tancredi fullname: Tancredi, Chantal organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 10 givenname: Viola surname: Alesi fullname: Alesi, Viola organization: Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – sequence: 11 givenname: Aurore surname: Coulomb fullname: Coulomb, Aurore organization: Department of Pathology, AP-HP, Armand Trousseau Hospital, Paris, France – sequence: 12 givenname: Valeria surname: Ceolin fullname: Ceolin, Valeria organization: Stem Cell Transplantation and Cellular Therapy Department, Pediatric Onco-Hematology, Regina Margherita Children’s Hospital, Turin, Italy – sequence: 13 givenname: Francesco surname: Saglio fullname: Saglio, Francesco organization: Stem Cell Transplantation and Cellular Therapy Department, Pediatric Onco-Hematology, Regina Margherita Children’s Hospital, Turin, Italy – sequence: 14 givenname: Marco surname: Leone fullname: Leone, Marco organization: Stem Cell Transplantation and Cellular Therapy Department, Pediatric Onco-Hematology, Regina Margherita Children’s Hospital, Turin, Italy – sequence: 15 givenname: Franca surname: Fagioli fullname: Fagioli, Franca organization: Stem Cell Transplantation and Cellular Therapy Department, Pediatric Onco-Hematology, Regina Margherita Children’s Hospital, Turin, Italy – sequence: 16 givenname: Solenne Le surname: Louet fullname: Louet, Solenne Le organization: Service d’Hématologie et d’Oncologie Pédiatrique, AP-HP Sorbonne Université, Hôpital Armand Trousseau, Paris, France – sequence: 17 givenname: Arnaud surname: Petit fullname: Petit, Arnaud organization: Service d’Hématologie et d’Oncologie Pédiatrique, AP-HP Sorbonne Université, Hôpital Armand Trousseau, Paris, France – sequence: 18 givenname: Sabah surname: Boudjemaa fullname: Boudjemaa, Sabah organization: Department of Pathology, AP-HP, Armand Trousseau Hospital, AP-HP Sorbonne Université, Paris, France – sequence: 19 givenname: Rita surname: Alaggio fullname: Alaggio, Rita organization: Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy |
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| Cites_doi | 10.3324/haematol.2019.231928 10.1002/gcc.23251 10.1016/j.gene.2017.06.056 10.1038/s41408-022-00746-x 10.1002/ajh.25944 10.1186/s40478-023-01708-5 10.1172/JCI157101 10.1038/leu.2011.100 10.1002/pbc.30333 10.1093/ajcp/aqaa216 10.3390/genes13101686 10.1038/leu.2012.266 |
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| Keywords | NFIA::CBFA2T3 Pediatric TP53 Erythroid sarcoma Erythroid leukemia |
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| SubjectTerms | Erythroid leukemia Erythroid sarcoma NFIA::CBFA2T3 Pathology Pediatric TP53 |
| Title | 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 |
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