Expression profiling of some Acute Myeloid Leukemia - associated markers to assess their diagnostic / prognostic potential

Mousa, Nahla O.; Gado, Marwa; Assem, Maha; Dawood, Kamal M.; Osman, Ahmed

doi:10.1590/1678-4685-gmb-2019-0268

Cited by 7 publications

(12 citation statements)

References 31 publications

(32 reference statements)

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“…Measuring the expression level of PHF6 showed decreased PHF6 levels in patients with mutations compared to M0, M1, and M2 AML subtypes with wild-type PHF6 , again supporting a tumor suppressor role for PHF6 and providing at least some genetic context to the results found by Mousa et al. above ( 53 , 59 ).…”

Section: Phf6 and Hematologic Diseasesupporting

confidence: 73%

“…Co-genetic abnormalities included RUNX1/ RUNX1T1 translocations, NUP98/KDM5A translocations, and mutations in WT1, RAS, ETV6, TET2, IDH1, and BCORL1 (53). Measuring the expression level of PHF6 showed decreased PHF6 levels in patients with mutations compared to M0, M1, and M2 AML subtypes with wild-type PHF6, again supporting a tumor suppressor role for PHF6 and providing at least some genetic context to the results found by Mousa et al above (53,59).…”

Section: Acute Myeloid Leukemiamentioning

confidence: 54%

“…Despite PHF6 mutations leading to inactivation of the protein, an analysis of PHF6 expression levels in AML regardless of mutation status revealed that PHF6 protein levels are higher in patients with AML than normal controls, a finding seemingly at odds with its role as a tumor suppressor ( 59 ). Moreover, increased PHF6 levels correlated with an increased percentage of blasts, with a possible correlation with CD34 positivity ( 59 ). Decreased PHF6 protein expression correlated with longer overall survival than those with high expression levels (2 years versus 6 months) ( 59 ).…”

Section: Phf6 and Hematologic Diseasementioning

confidence: 99%

“…Moreover, increased PHF6 levels correlated with an increased percentage of blasts, with a possible correlation with CD34 positivity ( 59 ). Decreased PHF6 protein expression correlated with longer overall survival than those with high expression levels (2 years versus 6 months) ( 59 ).…”

Section: Phf6 and Hematologic Diseasementioning

confidence: 99%

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PHF6 Mutations in Hematologic Malignancies

Kurzer

Weinberg

2021

Front. Oncol.

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Next generation sequencing has uncovered several genes with associated mutations in hematologic malignancies that can serve as potential biomarkers of disease. Keeping abreast of these genes is therefore of paramount importance in the field of hematology. This review focuses on PHF6, a highly conserved epigenetic transcriptional regulator that is important for neurodevelopment and hematopoiesis. PHF6 serves as a tumor suppressor protein, with PHF6 mutations and deletions often implicated in the development of T-lymphoblastic leukemia and less frequently in acute myeloid leukemia and other myeloid neoplasms. PHF6 inactivation appears to be an early event in T-lymphoblastic leukemogenesis, requiring cooperating events, including NOTCH1 mutations or overexpression of TLX1 and TLX3 for full disease development. In contrast, PHF6 mutations tend to occur later in myeloid malignancies, are frequently accompanied by RUNX1 mutations, and are often associated with disease progression. Moreover, PHF6 appears to play a role in lineage plasticity within hematopoietic malignancies, with PHF6 mutations commonly present in mixed phenotype acute leukemias with a predilection for T-lineage marker expression. Due to conflicting data, the prognostic significance of PHF6 mutations remains unclear, with a subset of studies showing no significant difference in outcomes compared to malignancies with wild-type PHF6, and other studies showing inferior outcomes in certain patients with mutated PHF6. Future studies are necessary to elucidate the role PHF6 plays in development of T-lymphoblastic leukemia, progression of myeloid malignancies, and its overall prognostic significance in hematopoietic neoplasms.

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Section: Phf6 and Hematologic Diseasesupporting

confidence: 73%

Section: Acute Myeloid Leukemiamentioning

confidence: 54%

Section: Phf6 and Hematologic Diseasementioning

confidence: 99%

Section: Phf6 and Hematologic Diseasementioning

confidence: 99%

See 2 more Smart Citations

PHF6 Mutations in Hematologic Malignancies

Kurzer

Weinberg

2021

Front. Oncol.

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“…4 The epidermal growth factor receptor family includes HER1 (EGFR), HER-2 (erbB2), HER3 (erbB3), and HER4 (erbB4). 5,6 These RTKs are transmembrane single subunit glycoproteins with intracellular tyrosine kinase, a catalytic domain, an extracellular ligand-binding domain, and a transmembrane domain. HER-2, also known as receptor tyrosineprotein kinase erbB-2, is a member of the EGFR family of receptor tyrosine kinases.…”

Section: Introductionmentioning

confidence: 99%

Recent advances in biosensor devices for HER-2 cancer biomarker detection

Chupradit

Jasim²,

Bokov

et al. 2022

Anal. Methods

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The relevance of the hematopoietic niche for therapy resistance in acute myeloid leukemia

Allert

Müller‐Tidow

Blank

2023

Intl Journal of Cancer

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The expansion of acute myeloid leukemia (AML) blasts not only suppresses normal hematopoiesis, but also alters the microenvironment. The interplay of different components of the bone marrow gives rise to altered metabolic states and activates signaling pathways which lead to resistance and impede effective therapy. Therefore, the underlying processes and mechanisms represent attractive therapeutic leverage points for overcoming therapy resistance in AML. Here, we briefly discuss resistance mechanisms based on cell interactions and secreted soluble factors in the hematopoietic niche and provide an overview of niche‐related therapeutic targets currently undergoing preclinical and clinical investigation which may help improve the outcome in AML therapy.

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Expression profiling of some Acute Myeloid Leukemia - associated markers to assess their diagnostic / prognostic potential

Cited by 7 publications

References 31 publications

PHF6 Mutations in Hematologic Malignancies

PHF6 Mutations in Hematologic Malignancies

Recent advances in biosensor devices for HER-2 cancer biomarker detection

The relevance of the hematopoietic niche for therapy resistance in acute myeloid leukemia

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