The current perspective of low-grade myelodysplastic syndrome in children

Hasegawa, Daisuke

doi:10.1007/s12185-016-1965-7

Cited by 18 publications

(24 citation statements)

References 22 publications

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“…RCC is a low-grade MDS in children and adolescents, and the most common subtype of MDS in that age group, accounting for 50%-90% of all MDS cases in children. 4,7 The annual incidence of de novo MDS in a Japanese prospective registry study was 78 cases, more than 90% of which were RCC. 7 The clinical symptoms are usually related to cytopenia such as anemia, bleeding tendency, and infection.…”

Section: Clinical Featuresmentioning

confidence: 99%

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The histopathology of bone marrow failure in children

Iwafuchi¹

2018

JCEH

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Bone marrow failure (BMF) is a rare but life-threatening disorder that usually manifests as (pan)cytopenia. BMF can be caused by a variety of diseases, but inherited BMF (IBMF) syndromes are a clinically important cause, especially in children. IBMF syndromes are a heterogeneous group of genetic disorders characterized by BMF, physical abnormalities, and predisposition to malignancy. An accurate diagnosis is critical, as disease-specific management, surveillance, and genetic counselling are required for each patient. The major differential diagnoses of IBMF syndromes are acquired aplastic anemia (AA) and refractory cytopenia of childhood (RCC). These diseases have overlapping features, such as BM hypocellularity and/or dysplastic changes, which make the differential diagnosis challenging. RCC has been defined as a histomorphologically distinct entity. Therefore, understanding the BM histopathology of these diseases is essential for the differential diagnosis. However, the BM histopathological features have not been characterized in detail, as descriptions of BM histopathology are very limited due to the rarity of the diseases. This review provides a detailed description of the BM histopathology in cases of RCC, AA, and the four most common IBMF syndromes: Fanconi anemia (FA), dysketatosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS). An overview, including the clinical features and diagnosis, is also provided.

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Section: Clinical Featuresmentioning

confidence: 99%

“…4,7 The annual incidence of de novo MDS in a Japanese prospective registry study was 78 cases, more than 90% of which were RCC. 7 The clinical symptoms are usually related to cytopenia such as anemia, bleeding tendency, and infection. Approximately 20% of patients have no clinical symptoms or signs.…”

Section: Clinical Featuresmentioning

confidence: 99%

The histopathology of bone marrow failure in children

Iwafuchi¹

2018

JCEH

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“…8 Children who meet the criteria for refractory cytopenia with multilineage dysplasia should be considered as having RCC until the prognostic significance of a multilineage dysplasia is clarified. 3,6 Cytogenetics An abnormal karyotype is found in 55% of children with advanced primary MDS and in 76% with secondary advanced MDS. 19 Monosomy 7 is the most common cytogenetic abnormality in childhood MDS and is seen in 25% of the patients.…”

Section: Bm Findingsmentioning

confidence: 99%

“…For a more thorough overview, the reader is referred to several reviews published recently. [3][4][5][6][7] Low-grade MDS MDS with less than 2% blasts in peripheral blood (PB) or less than 5% blasts in the bone marrow (BM) are classified as refractory cytopenia of childhood (RCC) or low-grade MDS. 1,2 The majority of the children with RCC have a hypoplastic BM, which resembles aplastic anemia.…”

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confidence: 99%

Myelodysplastic and myeloproliferative disorders of childhood

Hasle

2016

Hematology

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Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions. RCC is often hypoplastic and may respond to immunosuppressive therapy. In case of immunosuppressive therapy failure, hypercellular RCC, or RCC with monosomy 7, hematopoietic stem cell transplantation (HSCT) using reduced-intensity conditioning regimens is indicated. Almost all patients with refractory anemia with excess blasts are candidates for HSCT; children age 12 years or older have a higher risk of treatmentrelated death, and the conditioning regimens should be adjusted accordingly. Unraveling the genetics of JMML has demonstrated that JMML in patients with germ line PTPN11 and CBL mutations often regresses spontaneously, and therapy is seldom indicated. Conversely, patients with JMML and neurofibromatosis type 1, somatic PTPN11, KRAS, and most of those with NRAS mutations have a rapidly progressive disease, and early HSCT is indicated. The risk of relapse after HSCT is high, and prophylaxis for graft-versus-host disease and monitoring should be adapted to this risk. Learning Objectives• To recognize the challenges in making a diagnosis of MDS in children • To know the different therapeutic strategies in low-grade and advanced MDS • To understand the genetics of JMML and how it may be used for treatment stratification Myelodysplastic and myeloproliferative disorders are rare in children and have different morphologic features, cytogenetic findings, prognostic factors, and therapeutic aims than in adults. Therefore, there is a need for a pediatric approach to the classification of these disorders 1 as integrated in the 2008 version of the World Health Organization classification 2 that recognizes the specific features of diseases in children vs those in adults (Table 1).The diseases are divided into low-grade myelodysplastic syndrome (MDS), advanced MDS, and juvenile myelomonocytic leukemia (JMML). The myeloid leukemia of Down syndrome represents a specific entity that should not be included in series of MDSs and will not be discussed in this review. There is an increasing recognition that more children have an underlying genetic predisposition for the development of MDS or JMML. For a more thorough overview, the reader is referred to several reviews published recently. 3-7Low-grade MDS MDS with less than 2% blasts in peripheral blood (PB) or less than 5% blasts in the bone marrow (BM) are classified as refractory cytopenia of childhood (RCC) or low-grade MDS.1,2 The majority of the children wit...

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“…This group of diseases is rare in pediatrics and represents less than 5% of all hematologic cancers in patients under the age of 14 years. However, the number of cases in children has increased considerably in recent years, showing the need for and importance of care with these patients …”

Section: Introduction/backgroundmentioning

confidence: 99%