Comment on: Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21

Aksu, Tekin; Gümrük, Fatma; Ünal, Şule

doi:10.1002/pbc.28289

Cited by 1 publication

(1 citation statement)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Rare cases of TAM without GATA1 mutations feature in the literature. However, this may be due to technical limitations, in particular prior to the use of sensitive next-generation-sequencing methods ( Panferova et al, 2021 ), small disease clones, or the lack of appropriate diagnostic samples if the condition is not suspected at presentation ( Aksu et al, 2020 ). The expanding use of sensitive sequencing technologies will make the diagnosis of DS-like TAM easier in the future, which should advance our knowledge about this extremely rare condition.…”

Section: Introductionmentioning

confidence: 99%

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

Kalev‐Zylinska

2022

Front. Genet.

View full text Add to dashboard Cite

Myeloid leukemia associated with Down syndrome (ML-DS) has a unique molecular landscape that differs from other subtypes of acute myeloid leukemia. ML-DS is often preceded by a myeloproliferative neoplastic condition called transient abnormal myelopoiesis (TAM) that disrupts megakaryocytic and erythroid differentiation. Over the last two decades, many genetic and epigenetic changes in TAM and ML-DS have been elucidated. These include overexpression of molecules and micro-RNAs located on chromosome 21, GATA1 mutations, and a range of other somatic mutations and chromosomal alterations. In this review, we summarize molecular changes reported in TAM and ML-DS and provide a comprehensive discussion of these findings. Recent advances in the development of CRISPR/Cas9-modified induced pluripotent stem cell-based disease models are also highlighted. However, despite significant progress in this area, we still do not fully understand the pathogenesis of ML-DS, and there are no targeted therapies. Initial diagnosis of ML-DS has a favorable prognosis, but refractory and relapsed disease can be difficult to treat; therapeutic options are limited in Down syndrome children by their stronger sensitivity to the toxic effects of chemotherapy. Because of the rarity of TAM and ML-DS, large-scale multi-center studies would be helpful to advance molecular characterization of these diseases at different stages of development and progression.

show abstract

Section: Introductionmentioning

confidence: 99%

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

Kalev‐Zylinska

2022

Front. Genet.

View full text Add to dashboard Cite

show abstract

Comment on: Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21

Cited by 1 publication

References 2 publications

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

Contact Info

Product

Resources

About