Diagnosis of myelodysplastic syndromes in Poland: Polish Adult Leukemia Group (PALG) 2021 recommendations

Mądry, Krzysztof; Drozd‐Sokołowska, Joanna; Lis, Karol; Budziszewska, Bożena Katarzyna; Pogłódek, Bartłomiej; Machowicz, Rafał; Subocz, Edyta; Wiśniewska-Piąty, Katarzyna; Wróbel, Tomasz; Zaucha, Jan Maciej; Zarzycka, Ewa; Haus, Olga; Karakulska-Prystupiuk, Ewa; Gil, Lidia; Butrym, Aleksandra; Tomaszewska, Agnieszka; Basak, Grzegorz W.; Waszczuk‐Gajda, Anna; Pluta, Agnieszka; Szwedyk, Paweł; Jarmuż-Szymczak, Małgorzata; Rytel, Jagoda; Dwilewicz‐Trojaczek, Jadwiga

doi:10.5603/ahp.a2022.0001

Cited by 2 publications

(4 citation statements)

References 21 publications

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“…Genetic aspect is connected with mutations in germ lines and oncogenes, which are rarely seen in adults' cases [17,18]. Karyotype changes, such as chromosome 7 monosomy, are more frequently diagnosed in pediatric patients [16,18]. Pediatric MDS can also be associated with chromosomal instability syndromes and disorders of epigenetic regulators, which set an important connection with genetic abnormalities found in our patient [13].…”

Section: Mds and Allo-hsctmentioning

confidence: 64%

“…There are significant differences that distinguish pediatric MDS and MDS that occurs in adults including a genetic background of the disease and atypical clinical course in children [15,16]. Genetic aspect is connected with mutations in germ lines and oncogenes, which are rarely seen in adults' cases [17,18]. Karyotype changes, such as chromosome 7 monosomy, are more frequently diagnosed in pediatric patients [16,18].…”

Section: Mds and Allo-hsctmentioning

confidence: 99%

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Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Homa,

Janiuk

et al. 2023

Acta Haematol Pol.

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In this article, we would like to present rare diseases, which are immunodeficiency, centromeric instability and facial dysmorphism syndrome (ICF), and myelodysplastic neoplasm (MDS), with possible complications of their course and treatment with particular emphasis on pulmonary alveolar proteinosis (PAP). We are basing that review on our experience that we have gained through the diagnostic and treatment process of our pediatric patient. MDS is a rare disease among children that has a different and uncharacteristic clinical course and genetic background in comparison to MDS occurring in adults. Regarding the uncharacteristic clinical picture, the differential diagnosis can be a challenge for clinicians. In that process also diseases characterized by immunodeficiency should be taken into account, including the ICF. ICF type 2 is an autosomal recessive disease that manifests by agammaglobulinemia or hypogammaglobulinemia, developmental delay, and facial anomalies. Both ICF and MDS can be treated with an allogeneic hematopoietic stem cell transplantation. One of the possible complications in the course and treatment of MDS and ICF can be PAP. Its pathogenesis is based on the accumulation of surfactant in alveoli that leads to pulmonary insufficiency. As hematologic diseases and their treatment are known for their impact on multiple systems, we find the unique value of this article in being the first description of the coexistence of ICF type 2 with PAP.

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Section: Mds and Allo-hsctmentioning

confidence: 64%

Section: Mds and Allo-hsctmentioning

confidence: 99%

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Homa,

Janiuk

et al. 2023

Acta Haematol Pol.

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show abstract

mentioning

confidence: 99%

“…In this issue of "Acta Haematologica Polonica", Mądry et al [2] present new Polish recommendations for the diagnostics of MDS. This will be followed by recommendations on MDS treatment to appear in the next issue of "Acta Haematologica Polonica" [3]. These recommendations are in line with our journal's policy of international cooperation in hematology [4][5][6][7][8][9][10].…”

mentioning

confidence: 99%

Progress in molecular profiling: new recommendations in myelodysplastic syndromes

Styczyński

2022

Acta Haematol Pol.

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Diagnosis of myelodysplastic syndromes in Poland: Polish Adult Leukemia Group (PALG) 2021 recommendations

Abstract: This article has been peer reviewed and published immediately upon acceptance.It is an open access article, which means that it can be downloaded, printed, and distributed freely, provided the work is properly cited.

Cited by 2 publications

References 21 publications

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Progress in molecular profiling: new recommendations in myelodysplastic syndromes

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