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  1. Article ; Online: Characterization of leukemia progression in the Cbfb-MYH11 knockin mice by single cell RNA sequencing.

    Diemer, Jamie L / Yu, Kai / Kelly, Michael / Zhen, Tao / Anderson, Stacie / Lopez, Guadalupe / Liu, Paul

    Leukemia

    2023  Volume 37, Issue 7, Page(s) 1549–1553

    MeSH term(s) Mice ; Animals ; Humans ; Leukemia/genetics ; Sequence Analysis, RNA ; Oncogene Proteins, Fusion/genetics ; Leukemia, Myeloid, Acute/genetics ; Core Binding Factor beta Subunit/genetics ; Chromosomes, Human, Pair 16 ; Chromosome Inversion ; Myosin Heavy Chains/genetics
    Chemical Substances Oncogene Proteins, Fusion ; Core Binding Factor beta Subunit ; MYH11 protein, human ; Myosin Heavy Chains (EC 3.6.4.1)
    Language English
    Publishing date 2023-05-24
    Publishing country England
    Document type Letter ; Research Support, N.I.H., Intramural
    ZDB-ID 807030-1
    ISSN 1476-5551 ; 0887-6924
    ISSN (online) 1476-5551
    ISSN 0887-6924
    DOI 10.1038/s41375-023-01926-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.

    Zezulin, Alexandra U / Ye, Darwin / Howell, Elizabeth / Yen, Daniel / Bresciani, Erica / Diemer, Jamie / Ren, Jian-Gang / Ahmad, Mohd Hafiz / Castilla, Lucio H / Touw, Ivo P / Minn, Andy J / Tong, Wei / Liu, P Paul / Tan, Kai / Yu, Wenbao / Speck, Nancy A

    bioRxiv : the preprint server for biology

    2023  

    Abstract: The transcription factor RUNX1 is mutated in familial platelet disorder with associated myeloid malignancies (FPDMM) and in sporadic myelodysplastic syndrome and leukemia. RUNX1 regulates inflammation in multiple cell types. Here we show that RUNX1 is ... ...

    Abstract The transcription factor RUNX1 is mutated in familial platelet disorder with associated myeloid malignancies (FPDMM) and in sporadic myelodysplastic syndrome and leukemia. RUNX1 regulates inflammation in multiple cell types. Here we show that RUNX1 is required in granulocyte-monocyte progenitors (GMPs) to restrict the inflammatory response of neutrophils to toll-like receptor 4 (TLR4) signaling. Loss of RUNX1 in GMPs increased the TLR4 coreceptor CD14 on neutrophils, which contributed to neutrophils’ increased inflammatory cytokine production in response to the TLR4 ligand lipopolysaccharide. RUNX1 loss increased the chromatin accessibility of retrotransposons in GMPs and neutrophils and induced a type I interferon signature characterized by enriched footprints for signal transducer and activator of transcription (STAT1::STAT2) and interferon regulatory factors (IRF) in opened chromatin, and increased expression of interferon-stimulated genes. The overproduction of inflammatory cytokines by neutrophils was reversed by inhibitors of type I IFN signaling. We conclude that RUNX1 restrains the chromatin accessibility of retrotransposons in GMPs and neutrophils, and that loss of RUNX1 increases proinflammatory cytokine production by elevating tonic type I interferon signaling.
    Language English
    Publishing date 2023-01-28
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.27.525911
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

    Yu, Kai / Deuitch, Natalie / Merguerian, Matthew / Cunningham, Lea / Davis, Joie / Bresciani, Erica / Diemer, Jamie / Andrews, Elizabeth / Young, Alice / Donovan, Frank / Sood, Raman / Craft, Kathleen / Chong, Shawn / Chandrasekharappa, Settara / Mullikin, Jim / Liu, Paul P

    Blood advances

    2023  Volume 8, Issue 2, Page(s) 497–511

    Abstract: Abstract: Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural ... ...

    Abstract Abstract: Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural history study for patients with FPDMM. Among 27 families with research genomic data by the end of 2021, 26 different germline RUNX1 variants were detected. Besides missense mutations enriched in Runt homology domain and loss-of-function mutations distributed throughout the gene, splice-region mutations and large deletions were detected in 6 and 7 families, respectively. In 25 of 51 (49%) patients without hematologic malignancy, somatic mutations were detected in at least 1 of the clonal hematopoiesis of indeterminate potential (CHIP) genes or acute myeloid leukemia (AML) driver genes. BCOR was the most frequently mutated gene (in 9 patients), and multiple BCOR mutations were identified in 4 patients. Mutations in 6 other CHIP- or AML-driver genes (TET2, DNMT3A, KRAS, LRP1B, IDH1, and KMT2C) were also found in ≥2 patients without hematologic malignancy. Moreover, 3 unrelated patients (1 with myeloid malignancy) carried somatic mutations in NFE2, which regulates erythroid and megakaryocytic differentiation. Sequential sequencing data from 19 patients demonstrated dynamic changes of somatic mutations over time, and stable clones were more frequently found in older adult patients. In summary, there are diverse types of germline RUNX1 mutations and high frequency of somatic mutations related to clonal hematopoiesis in patients with FPDMM. Monitoring changes in somatic mutations and clinical manifestations prospectively may reveal mechanisms for malignant progression and inform clinical management. This trial was registered at www.clinicaltrials.gov as #NCT03854318.
    MeSH term(s) Humans ; Aged ; Core Binding Factor Alpha 2 Subunit/genetics ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/pathology ; Myeloproliferative Disorders/genetics ; Hematologic Neoplasms/genetics ; Genomics ; Germ Cells/pathology ; Blood Platelet Disorders ; Blood Coagulation Disorders, Inherited
    Chemical Substances Core Binding Factor Alpha 2 Subunit ; RUNX1 protein, human
    Language English
    Publishing date 2023-11-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2915908-8
    ISSN 2473-9537 ; 2473-9529
    ISSN (online) 2473-9537
    ISSN 2473-9529
    DOI 10.1182/bloodadvances.2023011165
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Genomic Landscape of Patients with Germline

    Yu, Kai / Deuitch, Natalie / Merguerian, Matthew / Cunningham, Lea / Davis, Joie / Bresciani, Erica / Diemer, Jamie / Andrews, Elizabeth / Young, Alice / Donovan, Frank / Sood, Raman / Craft, Kathleen / Chong, Shawn / Chandrasekharappa, Settara / Mullikin, Jim / Liu, Paul P

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Germline : Key points: Comprehensive genomic profile of patients with FPDMM with ... ...

    Abstract Germline
    Key points: Comprehensive genomic profile of patients with FPDMM with germline
    Language English
    Publishing date 2023-01-17
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.17.524290
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.

    Zezulin, Alexandra U / Yen, Daniel / Ye, Darwin / Howell, Elizabeth D / Bresciani, Erica / Diemer, Jamie / Ren, Jian-Gang / Ahmad, Mohd Hafiz / Castilla, Lucio H / Touw, Ivo P / Minn, Andy J / Tong, Wei / Liu, P Paul / Tan, Kai / Yu, Wenbao / Speck, Nancy A

    Genes & development

    2023  Volume 37, Issue 13-14, Page(s) 605–620

    Abstract: The transcription factor RUNX1 is mutated in familial platelet disorder with associated myeloid malignancy (FPDMM) and in sporadic myelodysplastic syndrome and leukemia. RUNX1 was shown to regulate inflammation in multiple cell types. Here we show that ... ...

    Abstract The transcription factor RUNX1 is mutated in familial platelet disorder with associated myeloid malignancy (FPDMM) and in sporadic myelodysplastic syndrome and leukemia. RUNX1 was shown to regulate inflammation in multiple cell types. Here we show that RUNX1 is required in granulocyte-monocyte progenitors (GMPs) to epigenetically repress two inflammatory signaling pathways in neutrophils: Toll-like receptor 4 (TLR4) and type I interferon (IFN) signaling. RUNX1 loss in GMPs augments neutrophils' inflammatory response to the TLR4 ligand lipopolysaccharide through increased expression of the TLR4 coreceptor CD14. RUNX1 binds
    MeSH term(s) Neutrophils ; Toll-Like Receptor 4/metabolism ; Monocytes/metabolism ; Core Binding Factor Alpha 2 Subunit/genetics ; Core Binding Factor Alpha 2 Subunit/metabolism ; Cytokines/metabolism ; Chromatin/metabolism ; STAT1 Transcription Factor/metabolism
    Chemical Substances Toll-Like Receptor 4 ; Core Binding Factor Alpha 2 Subunit ; guanosine 5'-monophosphorothioate (76310-16-2) ; Cytokines ; Chromatin ; STAT1 Transcription Factor
    Language English
    Publishing date 2023-08-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
    ZDB-ID 806684-x
    ISSN 1549-5477 ; 0890-9369
    ISSN (online) 1549-5477
    ISSN 0890-9369
    DOI 10.1101/gad.350418.123
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2292: Show issues Location:
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    Zs.MG 54: Show issues

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  6. Article ; Online: Natural history study of patients with familial platelet disorder with associated myeloid malignancy.

    Cunningham, Lea / Merguerian, Matthew / Calvo, Katherine R / Davis, Joie / Deuitch, Natalie T / Dulau-Florea, Alina / Patel, Nisha / Yu, Kai / Sacco, Keith / Bhattacharya, Sumona / Passi, Monica / Ozkaya, Neval / De Leon, Seila / Chong, Shawn / Craft, Kathleen / Diemer, Jamie / Bresciani, Erica / O'Brien, Kevin / Andrews, Elizabeth J /
    Park, Nguyen / Hathaway, Londa / Cowen, Edward W / Heller, Theo / Ryan, Kerry / Barochia, Amisha / Nghiem, Khanh / Niemela, Julie / Rosenzweig, Sergio / Young, David J / Frischmeyer-Guerrerio, Pamela A / Braylan, Raul / Liu, Paul P

    Blood

    2023  Volume 142, Issue 25, Page(s) 2146–2158

    Abstract: Abstract: Deleterious germ line RUNX1 variants cause the autosomal dominant familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet dysfunction, and a predisposition to hematologic malignancies ( ...

    Abstract Abstract: Deleterious germ line RUNX1 variants cause the autosomal dominant familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet dysfunction, and a predisposition to hematologic malignancies (HMs). We launched a FPDMM natural history study and, from January 2019 to December 2021, enrolled 214 participants, including 111 patients with 39 different RUNX1 variants from 45 unrelated families. Seventy of 77 patients had thrombocytopenia, 18 of 18 had abnormal platelet aggregometry, 16 of 35 had decreased platelet dense granules, and 28 of 55 had abnormal bleeding scores. Nonmalignant bone marrows showed increased numbers of megakaryocytes in 12 of 55 patients, dysmegakaryopoiesis in 42 of 55, and reduced cellularity for age in 30 of 55 adult and 17 of 21 pediatric cases. Of 111 patients, 19 were diagnosed with HMs, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, acute lymphoblastic leukemia, and smoldering myeloma. Of those 19, 18 were relapsed or refractory to upfront therapy and referred for stem cell transplantation. In addition, 28 of 45 families had at least 1 member with HM. Moreover, 42 of 45 patients had allergic symptoms, and 24 of 30 had gastrointestinal (GI) symptoms. Our results highlight the importance of a multidisciplinary approach, early malignancy detection, and wider awareness of inherited disorders. This actively accruing, longitudinal study will genotype and phenotype more patients with FPDMM, which may lead to a better understanding of the disease pathogenesis and clinical course, which may then inform preventive and therapeutic interventions. This trial was registered at www.clinicaltrials.gov as #NCT03854318.
    MeSH term(s) Adult ; Humans ; Child ; Core Binding Factor Alpha 2 Subunit/genetics ; Longitudinal Studies ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/therapy ; Leukemia, Myeloid, Acute/complications ; Thrombocytopenia/genetics ; Myeloproliferative Disorders/complications ; Hematologic Neoplasms/genetics ; Hematologic Neoplasms/therapy ; Hematologic Neoplasms/complications
    Chemical Substances Core Binding Factor Alpha 2 Subunit
    Language English
    Publishing date 2023-09-22
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2023019746
    Database MEDical Literature Analysis and Retrieval System OnLINE

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