In this Indian CML cohort, somatic mutations were prevalent in TKI-resistant disease, linked to advanced phase and clonal complexity, and demonstrated a non-significant trend toward lower early MMR at diagnosis, highlighting the importance of genomic testing in this context.

3 days ago

Journal

ABL1 (ABL proto-oncogene 1) • ASXL1 (ASXL Transcriptional Regulator 1)

ASXL1 mutation

Mutational Landscape and Clinical Outcomes in AML With Sole Trisomy 8. (PubMed, Hematol Oncol)

Categorizing patients on the basis of MR gene mutations revealed that the inferior survival of sole +8 patients may be attributed to the high frequency of MR gene mutations in these patients. These findings indicate the importance of genetic mutations, specifically MR genes, in sole +8 AML.

5 days ago

Clinical data • Journal

FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • STAG2 (Stromal Antigen 2)

ASXL1 mutation • TET2 mutation • SRSF2 mutation

Gene-Specific Analysis of Clonal Hematopoiesis Identifies ASXL1 as a Risk Factor for Lung Cancer. (PubMed, bioRxiv)

In addition, rare germline variant association analysis revealed that germline variation in ASXL1 had the strongest association with lung cancer susceptibility among all solid tumors. Collectively, our findings support a model in which smoking-associated expansion of ASXL1-mutant clones contributes to lung cancer development and suggest that gene-specific CHIP metrics may enhance risk stratification and early detection strategies.

5 days ago

Journal

ASXL1 (ASXL Transcriptional Regulator 1)

ASXL1 mutation

MSK-IMPACT

Prognostic heterogeneity in ASXL1-mutated AML and refinement by an immunophenotype-based score. (PubMed, Front Oncol)

Collectively, this study demonstrates that ASXL1-mutated AML is not a monolithic high-risk entity. The ImmuScore provides a biologically informed and clinically feasible tool to identify truly high-risk ASXL1-mutated patients, potentially guiding personalized therapeutic strategies.

6 days ago

Journal

ASXL1 (ASXL Transcriptional Regulator 1) • CD123 (Interleukin 3 Receptor Subunit Alpha) • ITGAM (Integrin, alpha M) • IL3RA (Interleukin 3 Receptor Subunit Alpha)

ASXL1 mutation

Distinct clinical, molecular, and treatment response profiles in primary and secondary myelofibrosis: a single-center retrospective study. (PubMed, Hematology)

Treatment strategies included supportive care, interferon, hydroxyurea, and ruxolitinib. PMF and SMF demonstrate distinct clinical phenotypes despite sharing bone marrow fibrosis as a common endpoint. The mutational landscape highlights the genetic heterogeneity of MF and underscores the importance of integrating clinical, pathological, and molecular information to improve disease characterization and guide individualized management.

7 days ago

Retrospective data • Journal

JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin)

ASXL1 mutation

Jakafi (ruxolitinib) • hydroxyurea

Correlation between Peripheral Blood Immunological Markers and Gene Mutations in Myelodysplastic Syndrome (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)

Flow cytometry antibody indicators can suggest that MDS patients are prone to gene mutations related to chromatin regulation, transcriptional regulation, poor prognosis and leukemia transformation. The proportions of CD25+ T cells and lymphocytes were both closely related to the T-bet and GATA3 gene mutations.

8 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BCOR (BCL6 Corepressor) • IL2RA (Interleukin 2 receptor, alpha) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • SETBP1 (SET Binding Protein 1) • GATA2 (GATA Binding Protein 2) • PHF6 (PHD Finger Protein 6) • GATA3 (GATA binding protein 3)

TP53 mutation • KRAS mutation • NRAS mutation • ASXL1 mutation • EZH2 mutation

12d

A real-world data analysis of the impact of clonal hematopoiesis of indeterminate potential on therapeutic efficacy and adverse events of immune checkpoint inhibitors. (PubMed, Cancer)

In this real-world cohort, CHIP, particularly TET2 mutations, was associated with prolonged ICI treatment duration. These findings suggest that CHIP may serve as a potential biomarker for predicting the clinical benefit of ICIs in advanced solid tumors.

12 days ago

Retrospective data • Journal • Adverse events • Checkpoint inhibition • Real-world evidence • IO biomarker

DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)

ASXL1 mutation • TET2 mutation

13d

Rare and complex three-way t(8;11;21) translocation in core-binding factor acute myeloid leukemia transforming into refractory mediastinal myeloid sarcoma: cytogenetic and molecular insights. (PubMed, Cancer Genet)

Core-binding factor (CBF) acute myeloid leukemia (AML) with t(8;21)(q22;q22)/RUNX1::RUNX1T1 is typically considered as a favorable-risk AML in the context of cytarabine-based intensive chemotherapy...Here, we report the case of a young patient diagnosed with CBF-AML and RUNX1::RUNX1T1 fusion gene, carrying a rare and complex three-way t(8;11;21)(q22;q13;q22) translocation, with mutated KIT, ASXL1 and TET2 genes, transforming into an aggressive and multi-refractory mediastinal myeloid sarcoma. This case illustrates that this scarcely reported variant might negatively impact the favorable prognosis of CBF-AML.

13 days ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)

ASXL1 mutation • TET2 mutation • RUNX1-RUNX1T1 fusion

cytarabine

20d

Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation. (PubMed, Pediatr Dev Pathol)

He achieved remission with cytarabine-based induction and consolidation, but hematopoietic stem cell transplantation (HSCT) was declined...Children with unexplained cytopenia require vigilant monitoring and genomic profiling. Integration of molecular risk factors should guide individualized treatment strategies.

20 days ago

Journal

ASXL1 (ASXL Transcriptional Regulator 1)

ASXL1 mutation

cytarabine

21d

Molecular and clinical characteristics and prognosis of myelodysplastic neoplasms with biallelic TET2 inactivation (PubMed, Zhonghua Xue Ye Xue Za Zhi)

In contrast, no significant difference in OS was observed in the low-risk group (very low-risk, low-risk, and moderate low-risk) . Patients with MDS harboring biallelic TET2 inactivation exhibit distinct clinical and molecular characteristics and in patients with relatively high IPSS-M risk, their prognosis is worse than that of patients with monoallelic TET2 mutations.

21 days ago

Retrospective data • Journal

KRAS (KRAS proto-oncogene GTPase) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CUX1 (cut like homeobox 1) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

ASXL1 mutation • TET2 mutation • SRSF2 mutation

21d

Venetoclax Added to Fludarabine + Busulfan Prior to Transplant and to Maintenance Therapy for AML, MDS, and MDS/MPN (clinicaltrials.gov)

P1, N=102, Active, not recruiting, Jacqueline Garcia, MD | Trial completion date: Mar 2027 --> Mar 2030

21 days ago

Trial completion date

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCR (BCR Activator Of RhoGEF And GTPase) • BCL2 (B-cell CLL/lymphoma 2) • NPM1 (Nucleophosmin 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • DEK (DEK Proto-Oncogene) • RIT1 (Ras Like Without CAAX 1) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

TP53 mutation • KRAS mutation • NRAS mutation • RUNX1 mutation • RAS mutation • ASXL1 mutation • CBL mutation • Chr del(5q)

Venclexta (venetoclax) • azacitidine • Inqovi (decitabine/cedazuridine) • fludarabine IV • busulfan

23d

Genomic characterisation of Chinese myeloid malignancies and its clinical correlates: insights from targeted next-generation sequencing. (PubMed, Front Med (Lausanne))

These findings demonstrated associations between genetic alterations and clinical features, disease progression, and prognosis in Chinese patients with myeloid malignancies. However, the prognostic associations should be interpreted cautiously, as none of the evaluated variables remained independent prognostic factors in multivariate models.

23 days ago

Journal • Next-generation sequencing

TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2C (Lysine Methyltransferase 2C) • SRSF2 (Serine and arginine rich splicing factor 2) • WT1 (WT1 Transcription Factor) • FAT1 (FAT atypical cadherin 1) • IL7R (Interleukin 7 Receptor) • SETBP1 (SET Binding Protein 1)

TP53 mutation • NPM1 mutation • ASXL1 mutation • SRSF2 mutation