Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome

Asaf D. Yanir*, Aviva Krauss, Jerry Stein, Orna Steinberg-Shemer, Oded Gilad, Sharon Noy Lotan, Orly Dgany, Tatyana Krasnov, Yona Kodman, Tamar Feuerstein, Jacques Mardoukh, Hila Fishman, Ifat Geron, Joanne Yacobovich, Hannah Tamary, Yehudit Birger, Galia Avrahami, Shai Izraeli, Shlomit Barzilai Birenboim

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Inflammatory manifestations (IM) are well described in adult patients with myelodysplastic syndrome (MDS), but the presentation is highly variable and no standardized treatment exists. This phenomenon is rarely reported in children. As more pediatric patients are hematopoietic stem cell transplantation (HSCT) candidates, the role of anti-inflammatory treatment in relation to HSCT should be defined. Procedure: Here, we report a series of five children from a tertiary center. We describe the clinical presentation, molecular findings, and treatment options. Results: All patients presented with advanced MDS with blast percentages ranging 10–30%, all had severe IM. One patient had MDS secondary to severe congenital neutropenia, the other four patients had presumably primary MDS. All four were found to harbor a PTPN11 gene driver mutation, which is found in 35% of cases of juvenile myelomonocytic leukemia (JMML). The mutation was present in the myeloid lineage but not in T lymphocytes. Three had symptoms of Behcet's-like disease with trisomy 8 in their bone marrow. All patients were treated with anti-inflammatory medications (mainly systemic steroids) in an attempt to bring them to allogeneic HSCT in a better clinical condition. All demonstrated clinical improvement as well as regression in their MDS status post anti-inflammatory treatment. All have recovered from both MDS and their inflammatory symptoms post HSCT. Conclusion: Primary pediatric MDS with IM is driven in some cases by PTPN11 mutations, and might be on the clinical spectrum of JMML. Anti-inflammatory treatment may reverse MDS progression and improve the outcome of subsequent HSCT.

Original languageEnglish
Article numbere29138
JournalPediatric Blood and Cancer
Volume68
Issue number10
DOIs
StatePublished - Oct 2021

Keywords

  • JMML
  • PTPN11
  • hematopoietic stem cell transplantation
  • inflammatory manifestations
  • myelodysplastic syndromes

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