CD43-positive, EWSR1::FLI1 -rearranged Soft Tissue Sarcoma in a Pediatric Patient With History of B-Cell Acute Lymphoblastic Leukemia.


Journal

Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928

Informations de publication

Date de publication:
01 Jul 2023
Historique:
received: 11 11 2022
accepted: 24 02 2023
medline: 26 6 2023
pubmed: 8 4 2023
entrez: 7 4 2023
Statut: ppublish

Résumé

Ewing sarcoma is a small round blue cell tumor typically characterized by an EWSR1 rearrangement and expression of CD99 and NKX2.2, without expression of hematopoietic markers such as CD45. CD43 is an alternative hematopoietic immunohistochemical marker often utilized in the workup of these tumors and its expression typically argues against Ewing sarcoma. We report a 10-year-old with history of B-cell acute lymphoblastic leukemia presenting with an unusual malignant shoulder mass with variable CD43 positivity, but with an EWSR1::FLI1 fusion detected by RNA sequencing. Her challenging workup highlights the utility of next-generation DNA-based and RNA-based sequencing methods in cases with unclear or conflicting immunohistochemical results.

Identifiants

pubmed: 37027334
doi: 10.1097/MPH.0000000000002673
pii: 00043426-202307000-00028
doi:

Substances chimiques

RNA-Binding Protein EWS 0
Oncogene Proteins, Fusion 0
Biomarkers, Tumor 0
EWSR1 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e635-e638

Informations de copyright

Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.

Références

Oberg JA, Glade Bender JL, Sulis ML, et al. Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. Genome Med. 2016;8:133.
Vaske OM, Bjork I, Salama SR, et al. Comparative tumor RNA sequencing analysis for difficult-to-treat pediatric and young adult patients with cancer. JAMA Netw Open. 2019;2:e1913968.
Newman S, Nakitandwe J, Kesserwan CA, et al. Genomes for kids: the scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov. 2021;11:3008–3027.
Wood B, Wu D, Crossley B, et al. Measurable residual disease detection by high-throughput sequencing improves risk stratification for pediatric B-ALL. Blood. 2018;131:1350–1359.
Dolgin E. ClonoSEQ cleared for residual cancer testing. Cancer Discov. 2018;8:OF6.
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Choi EYK, Gardner JM, Lucas DR, et al. Ewing sarcoma. Semin Diagn Pathol. 2014;31:39–47.
Kuo AJ, Paulson VA, Hempelmann JA, et al. Validation and implementation of a modular targeted capture assay for the detection of clinically significant molecular oncology alterations. Pract Lab Med. 2020;19:e00153.
Ozdemirli M, Fanburg-Smith JC, Hartmann DP, et al. Differentiating lymphoblastic lymphoma and Ewing’s sarcoma: lymphocyte markers and gene rearrangement. Mod Pathol. 2001;14:1175–1182.
Jakovljević G, Nakić M, Rogosić S, et al. Pre-B-cell acute lymphoblastic leukemia with bulk extramedullary disease and chromosome 22 (EWSR1) rearrangement masquerading as Ewing sarcoma. Pediatr Blood Cancer. 2010;54:606–609.
Gagnon MF, Smadbeck JB, Vasmatzis G, et al. Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: a case series and review of literature. Ann Diagn Pathol. 2022;58:151942.
Applebaum MA, Goldsby R, Neuhaus J, et al. Clinical features and outcomes in patients with secondary Ewing sarcoma. Pediatr Blood Cancer. 2013;60:611–615.
Womer RB, West DC, Krailo MD, et al. Randomized controlled trial of interval-compressed chemotherapy for the treatment of localized ewing sarcoma: a report from the Children’s Oncology Group. JCO. 2012;30:4148–4154.
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Auteurs

Timothy J D Ohlsen (TJD)

Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute.
Department of Pediatrics, Division of Hematology/Oncology, Seattle Children's Hospital, University of Washington.

Erin R Rudzinski (ER)

Departments of Laboratories.
Departments of Laboratory Medicine and Pathology.

Sandra D Bohling (SD)

Departments of Laboratories.
Departments of Laboratory Medicine and Pathology.

Yajuan J Liu (YJ)

Departments of Laboratory Medicine and Pathology.

Ezekiel J Maloney (EJ)

Radiology, Seattle Children's Hospital.

Antoinette W Lindberg (AW)

Orthopedic Surgery, University of Washington, Seattle, WA.

Catherine M Albert (CM)

Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute.
Department of Pediatrics, Division of Hematology/Oncology, Seattle Children's Hospital, University of Washington.

Adam J Lamble (AJ)

Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute.
Department of Pediatrics, Division of Hematology/Oncology, Seattle Children's Hospital, University of Washington.

Mallory R Taylor (MR)

Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute.
Department of Pediatrics, Division of Hematology/Oncology, Seattle Children's Hospital, University of Washington.

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