Megan J Fitzpatrick, Ji Yuan, Ioana Capa, Jacob R Bledsoe, Clayton E Kibler, Catherine Tucker, Wen Shuai, Nana P Matsumoto, Gord Guo Zhu, Yi Ding, Xiaojun Wu, Wei Wang, Zhihong Hu, Liuyan Jiang, Yueping Jia, Yang Zhao, Yuihui Lin, Xuejun Tian, Carlos A Galliani, Girish Venkataraman, Sanjana Mehrotra, Paola Dal Cin, Mary M Haag, Bradford Siegele, Weiwei Zhang, Endi Wang, Irene Castañeda-Sánchez, Qian-Yun Zhang, Antonio R Perez-Atayde, Ken H Young, Sam Sadigh, Huan-You Wang, Robert P Hasserjian, L Jeffrey Medeiros, Zenggang Pan
{"title":"成人和儿童红母细胞肉瘤：通往同一目的地的不同途径。","authors":"Megan J Fitzpatrick, Ji Yuan, Ioana Capa, Jacob R Bledsoe, Clayton E Kibler, Catherine Tucker, Wen Shuai, Nana P Matsumoto, Gord Guo Zhu, Yi Ding, Xiaojun Wu, Wei Wang, Zhihong Hu, Liuyan Jiang, Yueping Jia, Yang Zhao, Yuihui Lin, Xuejun Tian, Carlos A Galliani, Girish Venkataraman, Sanjana Mehrotra, Paola Dal Cin, Mary M Haag, Bradford Siegele, Weiwei Zhang, Endi Wang, Irene Castañeda-Sánchez, Qian-Yun Zhang, Antonio R Perez-Atayde, Ken H Young, Sam Sadigh, Huan-You Wang, Robert P Hasserjian, L Jeffrey Medeiros, Zenggang Pan","doi":"10.1016/j.modpat.2025.100716","DOIUrl":null,"url":null,"abstract":"<p><p>Erythroblastic sarcoma (ES), the mass-forming presentation of acute erythroid leukemia, is a rare and challenging diagnosis. Given the limited number of published cases, the diagnostic criteria, immunophenotype, and molecular characteristics are not well defined. We describe 56 cases of ES (36 adult and 11 pediatric cases from our cohort, and 9 pediatric cases from the literature). The median age was 60 years among adults and 1.8 years among children. An association with prior cytotoxic therapy or myeloid neoplasm was documented in 10/36 (28%) and 25/36 (69%) adults, respectively, but was not reported in children. Bones were the most common site of involvement among adults (16/36, 44%), whereas soft tissue or central nervous system involvement was most common among children (each 9/20, 45%). Adult and pediatric ES shared similar morphologic features with all cases showing mass formation of erythroblasts and/or involvement of body fluids. Immunophenotypic analysis showed that blasts were positive for CD71 (49/49, 100%), GLUT1 (12/12, 100%), CD43 (37/39, 95%), E-cadherin (38/44, 86%), and CD117 (39/51, 76%) but were mostly negative for CD45 (15/48, 31% positive). Strong and diffuse P53 expression was common among adults (21/24, 88%) and absent among children (3/10, 30% with dim/subset positivity). Although a complex karyotype was common in adult (15/17, 88%) and pediatric ES (8/12, 68%), TP53 mutations were exclusively seen in adult ES (17/19, 89%), at least 11 of which (65%) were biallelic. Instead, pediatric ES was enriched for gene fusions; specific fusions were identified in 10 cases, 7 of which involved NFIA rearrangement. The prognosis was poor among both age groups; 29/37 (78%) patients died from disease with a median overall survival of 3 months. Overall, these results show that adult and pediatric ES have overlapping morphologic and immunophenotypic features but distinct molecular profiles suggesting diverging pathogenesis.</p>","PeriodicalId":18706,"journal":{"name":"Modern Pathology","volume":" ","pages":"100716"},"PeriodicalIF":7.1000,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.\",\"authors\":\"Megan J Fitzpatrick, Ji Yuan, Ioana Capa, Jacob R Bledsoe, Clayton E Kibler, Catherine Tucker, Wen Shuai, Nana P Matsumoto, Gord Guo Zhu, Yi Ding, Xiaojun Wu, Wei Wang, Zhihong Hu, Liuyan Jiang, Yueping Jia, Yang Zhao, Yuihui Lin, Xuejun Tian, Carlos A Galliani, Girish Venkataraman, Sanjana Mehrotra, Paola Dal Cin, Mary M Haag, Bradford Siegele, Weiwei Zhang, Endi Wang, Irene Castañeda-Sánchez, Qian-Yun Zhang, Antonio R Perez-Atayde, Ken H Young, Sam Sadigh, Huan-You Wang, Robert P Hasserjian, L Jeffrey Medeiros, Zenggang Pan\",\"doi\":\"10.1016/j.modpat.2025.100716\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Erythroblastic sarcoma (ES), the mass-forming presentation of acute erythroid leukemia, is a rare and challenging diagnosis. Given the limited number of published cases, the diagnostic criteria, immunophenotype, and molecular characteristics are not well defined. We describe 56 cases of ES (36 adult and 11 pediatric cases from our cohort, and 9 pediatric cases from the literature). The median age was 60 years among adults and 1.8 years among children. An association with prior cytotoxic therapy or myeloid neoplasm was documented in 10/36 (28%) and 25/36 (69%) adults, respectively, but was not reported in children. Bones were the most common site of involvement among adults (16/36, 44%), whereas soft tissue or central nervous system involvement was most common among children (each 9/20, 45%). Adult and pediatric ES shared similar morphologic features with all cases showing mass formation of erythroblasts and/or involvement of body fluids. Immunophenotypic analysis showed that blasts were positive for CD71 (49/49, 100%), GLUT1 (12/12, 100%), CD43 (37/39, 95%), E-cadherin (38/44, 86%), and CD117 (39/51, 76%) but were mostly negative for CD45 (15/48, 31% positive). Strong and diffuse P53 expression was common among adults (21/24, 88%) and absent among children (3/10, 30% with dim/subset positivity). Although a complex karyotype was common in adult (15/17, 88%) and pediatric ES (8/12, 68%), TP53 mutations were exclusively seen in adult ES (17/19, 89%), at least 11 of which (65%) were biallelic. Instead, pediatric ES was enriched for gene fusions; specific fusions were identified in 10 cases, 7 of which involved NFIA rearrangement. The prognosis was poor among both age groups; 29/37 (78%) patients died from disease with a median overall survival of 3 months. 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Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.
Erythroblastic sarcoma (ES), the mass-forming presentation of acute erythroid leukemia, is a rare and challenging diagnosis. Given the limited number of published cases, the diagnostic criteria, immunophenotype, and molecular characteristics are not well defined. We describe 56 cases of ES (36 adult and 11 pediatric cases from our cohort, and 9 pediatric cases from the literature). The median age was 60 years among adults and 1.8 years among children. An association with prior cytotoxic therapy or myeloid neoplasm was documented in 10/36 (28%) and 25/36 (69%) adults, respectively, but was not reported in children. Bones were the most common site of involvement among adults (16/36, 44%), whereas soft tissue or central nervous system involvement was most common among children (each 9/20, 45%). Adult and pediatric ES shared similar morphologic features with all cases showing mass formation of erythroblasts and/or involvement of body fluids. Immunophenotypic analysis showed that blasts were positive for CD71 (49/49, 100%), GLUT1 (12/12, 100%), CD43 (37/39, 95%), E-cadherin (38/44, 86%), and CD117 (39/51, 76%) but were mostly negative for CD45 (15/48, 31% positive). Strong and diffuse P53 expression was common among adults (21/24, 88%) and absent among children (3/10, 30% with dim/subset positivity). Although a complex karyotype was common in adult (15/17, 88%) and pediatric ES (8/12, 68%), TP53 mutations were exclusively seen in adult ES (17/19, 89%), at least 11 of which (65%) were biallelic. Instead, pediatric ES was enriched for gene fusions; specific fusions were identified in 10 cases, 7 of which involved NFIA rearrangement. The prognosis was poor among both age groups; 29/37 (78%) patients died from disease with a median overall survival of 3 months. Overall, these results show that adult and pediatric ES have overlapping morphologic and immunophenotypic features but distinct molecular profiles suggesting diverging pathogenesis.
期刊介绍：
Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology.
Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.
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