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MYELODYSPLASTIC NEOPLASM

Classification of rare pediatric myeloid neoplasia—Quo vadis?

Leukemia volume 36, pages 2947–2948 (2022)Cite this article

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Classification is essential to establish a uniform disease vocabulary which in turn is necessary for diagnosis, therapy, research, and clinical trials. Myeloid malignancies are rare in children, and classifications are dominated by experiences in adults. The clinical features, morphology, and genetics are different in children, so a pediatric approach is required. Classifications need to evolve in parallel with advances in disease biology and diagnostics, and should be meaningful for clinical care [1]. We read with interest the concurrently published 5th edition of the WHO Classification of Haematolymphoid Tumours [2] and would like to share the following comments.

The 5th WHO edition introduces a category of childhood myelodysplastic syndrome with low blasts (cMDS-LB) and omits the former category refractory cytopenia of childhood (RCC). Diagnosis of cMDS-LB requires exclusion of bone marrow failure syndromes/germline predisposition conditions [2]. The number of known germline mutations associated with childhood MDS is continually expanding, underscoring the importance of not excluding these patients in the pediatric MDS classification. RCC was included in the prior WHO edition to categorize pediatric bone marrow patterns that might progress to MDS with excess blasts (MDS-EB) or to severe bone marrow hypoplasia. In this respect, RCC represents a biological spectrum of disease stages reflecting the plasticity of the bone marrow in children, including children with germline predisposition. Approximately 80% of RCC cases present with a hypocellular bone marrow; however, extrapolation to cMDS-LB remains to be determined. Bone marrow biopsy is essential to evaluate cellularity and distribution of hematopoiesis in addition to dysplastic changes in hematopoietic lineages [3]. The International Consensus Classification (ICC) updates the diagnostic criteria for RCC to enable pathologists and pediatricians to classify these cases reliably [1]. Importantly, only a subset of RCC cases harbor cytogenetic or clonal abnormalities, such as monosomy 7 or somatic mutations [4]. Cases with germline predisposition including inherited bone marrow failure disorders may present as RCC. By maintaining and expanding the category of RCC, the ICC offers a framework to recognize pediatric patients who may benefit from structured follow-up and surveillance for early risk-adapted treatment.

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Authors and Affiliations

  1. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany

    Charlotte M. Niemeyer, Christian Flotho & Brigitte Strahm

  2. Institute of Pathology, Ludwig-Maximilians-Universität München, Munich, Germany

    Martina Rudelius

  3. Dana Farber/Boston Children’s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA

    Akiko Shimamura

  4. Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark

    Henrik Hasle

  5. Department of Pediatrics, UCSF Benioff Children’s Hospital San Francisco, University of California, San Francisco, CA, USA

    Elliot Stieglitz

  6. Department of Medicine, Section of Hematology/Oncology, The University of Chicago, Chicago, IL, USA

    Lucy A. Godley

  7. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Olga K. Weinberg

  8. Department of Pathology, Texas Tech University Health Sciences Center, El Paso, TX, USA

    Attilio Orazi

  9. Hematology Section, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA

    Katherine R. Calvo

Authors
  1. Charlotte M. Niemeyer
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  2. Martina Rudelius
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  4. Christian Flotho
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  5. Henrik Hasle
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  10. Attilio Orazi
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  11. Katherine R. Calvo
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Contributions

CMN, MR, CF, AS and KRC wrote the manuscript. OW, HH, ES, BS, LAG, and AO reviewed the manuscript and provided critical edits. All authors read, commented on and approved the manuscript.

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Correspondence to Katherine R. Calvo.

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Niemeyer, C.M., Rudelius, M., Shimamura, A. et al. Classification of rare pediatric myeloid neoplasia—Quo vadis?. Leukemia 36, 2947–2948 (2022). https://doi.org/10.1038/s41375-022-01731-w

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