ASXL1 mutation

Thanks for highlighting our work @AlkaliDr! This was a collective effort @UNC_Lineberger & largest analysis to date of ASXL1 mutations in myeloid malignancies championed by rising star pathologist Steven Johnson. As seen w/ other mutations, all ASXL1 mut are not created equal 👇 (@LeukDocJZ)

Very neat work ⁦@LeukDocJZ⁩ ⁦@calliecoombsmd⁩ on #ASXL1m in #myeloid_neoplasms. Love the analysis on Cohesin by being motif. 👏 👏 #MDSsm #NGS A reappraisal of ASXL1 mutation sites and the cohesin-binding motif in myeloid disease https://t.co/BqyqJ61cIf (@AlkaliDr)

Co-occurring mutations in ASXL1, SRSF2, and SETBP1 in MDS/MPN with neutrophilia #mpnsm @mpdrc ... https://t.co/QxIFqNkim2 (@TaniaJain11)

This study by @KlausMetzelerMD #MDS23 on ASXL1 mutation VAF in different marrow anatomical sites underscores potential for spatial variation in clonal patterns - echoed in extreme “focal AML” case by @CKBrierley et al @AjHematology 2012 we diagnosed only by sternal aspiration (@DavidSteensma)

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine [Sep 21, 2021] Rahmani et al. @BloodCancerJnl https://t.co/dnCgBYwzwP #OpenAccess #PrecisionMedicine #MDSsm #AMLsm #leusm (@mtmdphd)

Definitely favorable. Del(7q) and ASXL1 mutations are common (~10%) in t(8;21) AML. Should not change risk assessment. And in the end, MRD trumps all. (@NicolasDuployez)

Favorable risk! 1- ACA doesn’t affect Px in AML with t(8:21) ref. Grimwade et al. Blood 2010 2- ASXL1 mut without kinase signaling mutation is not adverse in AML with t(8;21) ref. Duployez et al. Blood 2016 3- Pt achieved MRD neg. after induction, so definitively favorable. (@grichardmd)

Calling out AML experts: What ELN group will someone with t(8;21) and del 7q and with mutated ASXL1 fall into? @Dr_AmerZeidan @beatalleukemia @Daver_Leukemia @DrChrisHourigan (@khera_nandita)

#ASH22 #leusm Pemmaraju: MDACC cohort of 118 BPDCN patients, median age 66, 75% have TET2 mutations, 38% ASXL1. Median OS 23 months. Skin vs BM involvement not assoc w survival. Median OS for those who proceeded to alloHCT (66mos). (@hemedoc)

A ways to go in R/R AML with P53/RAS/ASXL1 mutations.. #leusm #venetoclax #azacitidine #decitabine (@n_gangat)

#ASH22 clonal evolution of CML CP treated with Nilotinib (Tiger study). ASXL1 was the most common mutation https://t.co/8vXIVRf0Zw #leusm (@TalhaBadarMD)

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine [Sep 21, 2021] Rahmani et al. @BloodCancerJnl https://t.co/dnCgBYx7mn #OpenAccess #PrecisionMedicine #MDSsm #AMLsm #leusm (@mtmdphd)

I mean even for FPDMM with a germline ASXL1 mutation and nearly 50% risk of AML or T-ALL we don’t prophylactically do alloHCT. (@matthew_mei)

Our recent 📝 on the prevalence and impact of non-ABL1 gene mutations in #CML - ASXL1 is the most commonly mutated gene in CP vs RUNX1 in BP - mASXL1 is associated with suboptimal clinical outcomes @GhayasIssa, @DrHKantarjian, @NicholasShortMD, #leusm https://t.co/TkDvsVxcya (@ABidikianMD)

NGS results in progressive #CML 👉🏻 accelerated phase: ASXL1 mutations 👉🏻 blast phase : RUNX1 mutations Prognostic impact of ASXL1 mutations in chronic phase chronic myeloid leukemia | Blood Cancer Journal https://t.co/1MH4PalF1c (@AlkaliDr)

Our new work in upfront AML treated with HMA/Ven! 🌟 ASXL1 mutation ✅ response but 👎 impact on survival (⬆️ relapse) 🌟come see results in the R/R setting @ASH_hematology #ASH22 Always an honor @n_gangat @MayoMN_IMRES @MayoHemeOnc Haematologica https://t.co/USA8TUbWEa (@IslaJohnsonMD)

Prognostic impact of ASXL1 mutations in patients with myelodysplastic syndromes and multilineage dysplasia with or without ring sideroblasts [Jul 11, 2018] @a_mangaonkar et al. Leukemia Research https://t.co/14DuYchKd1 #MDSsm #camoldx #oncopath (@mtmdphd)

#EHA22 #EHA2022 ELN 2022 Consensus on AML diagnosis: 1/récurrent abnormalities 2/TP53 Mutation 3/ASXL1,EZH2,RUNX1 .. mutations 4/ cytogenetic (@HematoUptodate)

#Tandem22 #leusm Heuser: ELN recommends DAT (DNMT3A/ASXL1/TET2) mutations not be used to assess MRD because they are frequently present in pre-malignant clonal hematopoiesis. (@hemedoc)

Congrats to @MrinalPatnaik on this very important paper. Oncogenic gene expression and epigenetic remodeling of cis-regulatory elements in ASXL1-mutant chronic myelomonocytic leukemia | Nature Communications https://t.co/5SGFsvGh5z (@Rfonsi1)

#ASXL1 mutations are associated w/distinct epigenomic alterations that lead to sensitivity to venetoclax & azacytidine | ⁦@aditishasMD⁩ ⁦@Amitvermamds⁩ ⁦@DaichiInoue5⁩ ⁦@AbdelWahablab⁩ #leusm ⁦@BloodCancerJnl⁩ #OpenAccess https://t.co/FDjchuL4X8 (@doctorpemm)

Share with me something you learned today #TheMoreYouKnow I learned that TET2, SRSF2, and ASXL1 are the most frequently mutates genes in CMML! It a nice little nugget to stamp in with the hippocampus. (@AaronGoodman33)

A 56 y/o man w/ #AML (trisomy 8, mutations in ASXL1, SRSF2, IDH2, RUNX1) declined conventional therapy but achieved remission after 7 Kambô treatments (topical application of Phyllomedusa bicolor frog secretions). Which do you think is the most likely? https://t.co/0cm79uglGj (@DavidSteensma)

CMML cytogenetic and molecular prognostication - ASXL1 truncating mutations universally detrimental. Come join me @ASCO 2021 to discuss genomics of MDS/MPN overlap neoplasms. @LashoTerra @MayoCancerCare (@MrinalPatnaik)

Interestingly, SRSF2 mutations were consistently found at a higher VAF than ASXL1 mutations. SRSF2 mutations appeared to be earlier mutational events in the majority of pts with ASXL1/SRSF2 mut AML. /5 (@LeukDocJZ)

ASXL1 mutations are “adverse-risk” & associated w/ preexisting myeloid neoplasms. However, it is unclear whether ASXL1/SRSF2 mutations have worse outcomes compared to either mut. alone. We set out to explore the genetic features & outcomes of pts w/ ASXL1/SRSF2mut AML./3 (@LeukDocJZ)

ASXL1 mutations are considered “adverse-risk” & are associated w/ preexisting myeloid neoplasms. However, it is unclear whether ASXL1/SRSF2 mutations have worse outcomes compared to either mut. alone. We set out to explore the genetic features & outcomes of ASXL1/SRSF2mut AML. /3 (@LeukDocJZ)

Interestingly, SRSF2 mutations were consistently found at a higher VAF than ASXL1 mutations. SRSF2 mutations appeared to be earlier mutational events in the majority of pts with ASXL1/SRSF2 mut AML. /5 (@LeukDocJZ)