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Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome
Author(s) -
Yanir Asaf D.,
Krauss Aviva,
Stein Jerry,
SteinbergShemer Orna,
Gilad Oded,
Lotan Sharon Noy,
Dgany Orly,
Krasnov Tatyana,
Kodman Yona,
Feuerstein Tamar,
Mardoukh Jacques,
Fishman Hila,
Geron Ifat,
Yacobovich Joanne,
Tamary Hannah,
Birger Yehudit,
Avrahami Galia,
Izraeli Shai,
Birenboim Shlomit Barzilai
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29138
Subject(s) - medicine , ptpn11 , juvenile myelomonocytic leukemia , myelodysplastic syndromes , congenital neutropenia , hematopoietic stem cell transplantation , trisomy 8 , neutropenia , gene mutation , bone marrow , pediatrics , oncology , disease , chemotherapy , stem cell , mutation , cancer , cytogenetics , haematopoiesis , kras , colorectal cancer , chemistry , biology , genetics , biochemistry , chromosome , gene
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.