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American Society of Hematology highlights St. Jude research in sickle cell, blood cancers

Late-breaking abstract highlights genomic and transcriptomic sequencing for AML and MDS, which may provide new prognostic guidance in these diseases. 


St. Jude Children's Research Hospital scientists present research at the 2019 American Society of Hematology (ASH) meeting, taking place in the Orange County Convention Center in Orlando from Dec. 6 to Dec. 10.

Data reveals new AML and MDS classifications

While standard gene panel testing has revealed much about the underlying genetics of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), novel technologies now allow researchers to further unravel the biology of these diseases. Ilaria Iacobucci, PhD, a staff scientist in the laboratory of Charles Mullighan, MD, MBBS, deputy director of the St. Jude Comprehensive Cancer Center, will announce genomic and transcriptomic sequencing results for AML and MDS. Although common mutations have been previously described, this analysis captured the heterogeneity and complexity of mutational patterns, as well as their expression in new detail. These findings enabled the definition of subtypes and constellations of mutations that surpasses previous gene panel-based understanding and may provide new prognostic guidance.

New Research Highlighted at ASH

In 2012, St. Jude launched a state-of-the-art clinic for adolescent patients with sickle cell disease who were transitioning to adult care. Through the St. Jude-Methodist Sickle Cell Disease Transition Clinic, patients learn how to handle their own care as they become adults. Patients receive education, transition skill-building and help with planning their care. During their first few adult-care visits, patients are seen by both a pediatric and an adult hematologist. Jane Hankins, MD, of the St. Jude Department of Hematology will present this work as part of the Education Program on Saturday, Dec. 7, 2019.

Medical student Anjelica Saulsberry will also present her work with Hankins on how neurocognitive impairment associated with sickle cell disease can predict poor transition outcomes. The researchers are exploring options for how to help patients remain engaged in care as an adult.

St. Jude researchers have demonstrated a novel, combination-therapy strategy for relapsed or non-responsive AML is active and well tolerated in pediatric patients. The Phase I clinical trial tested a combination of chemotherapy with the novel agent venetoclax, an oral BCL-2 inhibitor. The abstract will be presented by Seth Karol, MD, of the St. Jude Department of Oncology.

Investigators are also presenting research that dives into the underlying biology of various types of leukemia. Kathryn Roberts, PhD, from the Mullighan laboratory will share findings from research looking at the genomic landscape of childhood acute lymphoblastic leukemia (ALL) across B cell and T cell subtypes. Tanja Gruber, MD, PhD, of the St. Jude Department of Oncology will present her work on AML to identify rare but distinct molecular subtypes with clinical implications.

Many other presentations feature the work of St. Jude investigators. For example, collaborative work with the Chinese Children’s Cancer Group for which Ching-Hon Pui, MD, St. Jude Department of Oncology chair, is senior author describes the results of a Phase III clinical trial for Philadelphia chromosome-positive ALL. This and a multitude of other presentations and posters showcase the efforts of St. Jude researchers alongside numerous collaborators.

Research led by Kim Nichols, MD, director of the St. Jude Cancer Predisposition Division, will be presented on Saturday, Dec. 7, at 10:00 a.m. The presentation will detail promising results from a preclinical study of combination therapy  using the drugs dexamethasone and ruxolitib for treatment of hemophagocytic lymphohistiocytosis (HLH). These findings lay the groundwork for an upcoming clinical trial of this combination therapy in children with newly diagnosed or relapsed/refractory HLH.

ASH Recognizes St. Jude Researchers

In addition, two researchers were recognized by ASH for their work in hematology. Kim Nichols, MD, of St. Jude Oncology was awarded an ASH Bridge Grant. These awards are designed to sustain promising hematologic research proposals not funded after the first round of review by the National Institutes of Health, but which have a revised application pending or under review. Adrian Lesmana, MD, a St. Jude pediatric hematology oncology fellow, received a Research Training Award. He uses next-generation sequencing to study bone marrow failure syndromes and identify potential novel genes related to cancer predisposition.

  1. Leukemia

    Sickle Cell Disease

    Non-Malignant Hematology

  2. When: Tuesday, Dec. 10; 8:15 a.m. EST
    Where: Hall D
    Title: Integrated Transcriptomic and Genomic Sequencing Identifies Prognostic Constellations of Driver Mutations in Acute Myeloid Leukemia and Myelodysplastic Syndromes 
    Abstract: LBA-4

  3. Title: The Combination of Dexamethasone and Ruxolitinib Synergistically Attenuates Disease Manifestation in a Preclinical model of Hemophagocytic Lymphohistiocytosis
    When: Saturday, Dec. 7, 2019, 10 a.m. ET
    Where: W314, Level 3
    Abstract: 81

     Title: The Genomic Landscape of Childhood Acute Lymphoblastic Leukemia
    When: Monday, Dec. 9, 10:30 a.m. EST
    Where: W224ABEF, Level 2
    Abstract: 649

    Title: Identification of New Risk Loci and Regulatory Mechanisms Influencing Genetic Susceptibility to Acute Lymphoblastic Leukaemia
    When: Monday, Dec. 9, 2019, 10:45 a.m. EST
    Where: W224ABEF, Level 2
    Abstract: 650

    Title: Germline RUNX1 Variation and Predisposition to T-Cell Acute Lymphoblastic Leukemia in Children
    When: Monday, Dec. 9; 11:30 a.m. EST
    Where: W224ABEF, Level 2
    Abstract: 653

    Title: Engineering Naturally Occurring CD7 Negative Cells for the Immunotherapy of CD7 Positive Leukemia
    When: Monday, Dec. 9; 5:15 p.m. EST
    Where: W224ABEF, Level 2
    Abstract: 868

    Title: Integrative Analysis of Pediatric Acute Leukemia Identifies Immature Subtypes That Span a T Lineage and Myeloid Continuum with Distinct Prognoses
    When: Monday, Dec. 9, 2019: 7:30 p.m. EST
    Where: Tangerine 2 (WF2), Level 2
    Abstract: 918

    Title: Neurocognitive Impairment Predicts Poor Transition Outcomes Among Patients with Sickle Cell Disease
    When: Monday, Dec. 9, 2019: 7:30 a.m. EST
    Where: W304ABCD, Level 3
    Abstract: 519

     Title: Non-Coding HOX Fusions in Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia
    When: Monday, Dec. 9, 2019: 8 a.m. EST
    Where: Valencia D (W415D), Level 4
    Abstract: 533

     Title: Effect of Dasatinib vs Imatinib in the treatment of pediatric Philadelphia chromosome positive ALL: a randomized, open label, multicenter study of the Chinese Children’s Cancer Group
    When: Monday, Dec. 9, 2019: 5:45 PM EST
    Where: Tangerine 1 (WF1), Level 2
    Abstract: 828

  4. Title: SCI-33 -  Role of Genetic Evolution and Germline Mutations in SAMD9 and SAMD9L Genes
    When: Saturday, December 7, 9:30 a.m.; Sunday, December 8, 9:30 a.m. EST
    Where: W331, Level 3

    Title: SCI-43 -  Metabolic Control and Systems Immunology in Blood Cell Development
    When: Sunday, December 8, 7:30 a.m.; Saturday, December 9, 4:30 p.m. EST
    Where: Valencia D (W415D), Level 4

  5. Title: A Program of Transition to Adult Care
    Session: Sickle Cell Disease in Young and Old: A Time for Re-Evaluation
    When: Saturday, Dec. 7, 2 p.m.; Sunday, Dec. 8, 9:30 a.m. EST
    Where: W304, Level 3

  6. Title: Targets and Technologies for HbF Induction
    Session: Improving Fetal Hemoglobin Expression by NHEJ/MMEJ or Base Editing
    When: Friday, Dec. 6, 1:40 p.m. EST
    Where: W314, Level 3

     TitleGermline predisposition to hematopoietic malignancies and bone marrow failure
    When: Friday, Dec. 6, 5:55 p.m. EST
    Where: Tangerine 1, Level 2

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St. Jude Cloud

St. Jude Cloud is a data-sharing resource for the global research community. Explore unique next-generation sequencing data and analysis tools for pediatric cancer and other life-threatening diseases.


Public Resource of Patient-derived and Expanded Leukemias (PROPEL) is one of the largest repositories of patient-derived xenografts for adult and pediatric leukemias. Researchers may request these resources with no obligation to collaborate.

St. Jude Cloud is a data-sharing resource for the global research community. Explore unique next-generation sequencing data and analysis tools for pediatric cancer and other life-threatening diseases.