Hematology Commons^™

Comment On: Managing Sickle Cell Disease And Related Complications In Pregnancy: Results Of An International Delphi Panel, Deva Sharma, Ilknur Pamuk, Kenneth I. Ataga, Alexandra Benachi, Selim Büyükkurt, Sophie Lanzkron, Hakan Ozdogu, Shivan Pancham, Lydia H. Pecker, Susan E. Robinson, Safak Yilmaz Baran

Cardeza Foundation for Hematologic Research

Consensus-based recommendations on managing sickle cell disease in pregnancy were recently published in a hematology journal. As this topic is also of great interest to obstetricians and gynecologists, we summarize some of these recommendations, while highlighting the challenges of providing evidence-based medical care to pregnant individuals with sickle cell disease.

Assessing Current Non-Pharmacologic Pain Management Practices For Sickle Cell Disease In Adults, Shreya Kolipaka, Michelle Axe, Charmaine Wright, Stephanie Guarino

Student Papers, Posters & Projects

OBJECTIVES: Both acute and chronic pain caused by sickle cell disease (SCD) is often managed with opioid therapy despite limited evidence for long-term efficacy. Adequately managing SCD pain requires a comprehensive approach, incorporating both pharmacologic and non-pharmacologic interventions. In other conditions, peer-mentored group programs are effective in managing chronic pain; however, their role in SCD is not yet described. Our objective is to understand patients' current pharmacologic and non-pharmacologic SCD management practices as well as further exploring perspectives of pain related to SCD.

METHODS: Participants were interviewed using semi-structured format. Audio-recorded interviews were transcribed. Descriptive statistics and pain management modality …

Variation In Chronic Automated Red Cell Exchange Practices For Sickle Cell Disease: Insights Into Isovolemic Hemodilution Use, Jennifer M. Jones, Fatima Aldarweesh, Nicole Aqui, Aleh Bobr, Patricia Brunker, Mischa L. Covington, Juliana Guarente, Robert Hagar, Matthew Karafin, Divjot Singh Lamba, Grace Lee, Wen Lu, Ethan A. Mack, Gagan Muthur, Saadiya Nazli, Halima Olaniyan, Chinelo P. Onyenekwu, Jay S. Raval, Divya Setya, Yvette C. Tanhehco, Mamie Thant, Angelica Vivero, Yanyun Wu, Edward C. C. Wong, Nalan Yurtsever, Yan Zheng, Patricia A. Shi, Jennifer Webb

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Prior surveys of chronic automated red blood cell exchange (RCE) for patients with sickle cell disease (SCD) have identified considerable procedural variability, especially with the use of isovolemic hemodilution red blood cell exchange (IHD-RCE). We conducted a survey of chronic RCE practices among American Society for Apheresis (ASFA) members to identify opportunities for practice harmonization and future studies. The ASFA SCD Research Subcommittee developed a 72-item survey of chronic RCE practices, with a focus on IHD-RCE. The survey was validated internally and distributed by email to all ASFA members from September 2024 to February 2025. One survey response from each …

Evaluating The Market Withdrawal Of Andexanet Alfa, Jordyn Linfield, Addisyn Cooper, Alexander Defranco, Emma Gerding, Jessica Kelley, Tyler Henney, Connor Dains, Brenna Hissong, Brittany Bates

Pharmacy and Wellness Review

The coagulation cascade comprises intrinsic, extrinsic, and common pathways that converge when thrombin converts fibrinogen (factor I) into fibrin, leading to fibrin mesh formation, stabilization of the platelet plug, and ultimately thrombus formation. Inhibition of the coagulation cascade can be achieved with a variety of anticoagulant medications, including direct oral anticoagulants (DOACs). The mechanism of action of DOACs is to inhibit either factor Xa or thrombin. Reversal of anticoagulation remains an important clinical consideration when managing patients on DOACs who experience serious bleeding events. Andexanet alfa is a recombinant, modified human factor Xa protein previously indicated for patients receiving rivaroxaban …

Low-Dose Aspirin For Preventing Intrauterine Growth Restriction And Pre-Eclampsia In Sickle Cell Pregnancy, Lydia Pecker, Sophie Lanzkron

Cardeza Foundation for Hematologic Research

No abstract provided.

Outcomes Of Radiation Integrated With T-Cell-Engaging Bispecific Antibodies In Relapsed/Refractory Multiple Myeloma, Heta Patel, Harper Hubbeling, Kyle Yu, Maribel Carpenter, Michael Lariviere, John Plastaras, Adam Cohen, Shivani Kapur, Dan Vogl, Adam Waxman, Edward Stadtmauer, Alfred Garfall, Sandra Susanibar-Adaniya

Student Papers, Posters & Projects

No abstract provided.

Evaluating The American Society Of Hematology Quality Measure On Timeliness Of Analgesics For Sickle Cell Disease Pain Crisis, Ibrahim Gwarzo, Harish Chandra Dega, Paula Tanabe, Robin Miller, David C. Brousseau

Department of Medicine Faculty Papers

The American Society of Hematology (ASH) proposed the median time to first emergency department (ED) administration of pain medication for patients with sickle cell disease (SCD) vaso-occlusive pain episodes (VOE) as a site-level quality measure. Generalizable studies assessing current guideline adherence recommending pain medications within 60 minutes are lacking. We leveraged multisite electronic health record data from Epic's Cosmos research platform to analyze ED encounters for SCD VOE from 1 January 2019 to 31 December 2024, with administration of at least 1 pain medication. We calculated the quality measure (median time to first pain medication) and ranked sites based on …

National Landscape Of Pediatric And Adult Inpatient Sickle Cell Disease Care, Ashley M. Jenkins, Spoorthy Vangala, Matthew Mcintosh, Robert Legros, Sophie Lanzkron, Kevin Fiscella

Department of Medicine Faculty Papers

No abstract provided.

Sickle Cell Disease, Children's Health School Services

School Guides

Educator guide about how to support students with sickle cell disease.

Dupilumab In Chronic Rhinosinusitis Without Nasal Polyps: Randomized Phase 2 Trial (Orion), Stella E. Lee, Anju T. Peters, Philippe Gevaert, Joseph K. Han, Claus Bachert, Francisco Moreira Da Silva, Andrés Rosenblüt, Chih-Chi Hu, Jennifer Maloney, Paolo Caferra, Adrianna Michalak, Andrew P. Fontenot, Lacey B. Robinson, Neelam A. Phadke

Department of Otolaryngology (ENT) Faculty Publications

BACKGROUND: Chronic rhinosinusitis (CRS) is often driven by type 2 inflammation and is characterized by nasal obstruction/ discharge, facial pain/pressure, and/or reduced smell, either with or without nasal polyps (CRSwNP or CRSsNP).

OBJECTIVE: To test whether dupilumab improves radiographic features in CRSsNP. Methods: ORION (NCT04678856), a phase 2, randomized, multicenter, double blind, placebo-controlled study, assessed dupilumab efficacy and safety in adults with uncontrolled CRSsNP. Patients were randomized 1:1 to dupilumab or placebo for 24 to 52 weeks. Endpoints included changes from baseline at week 24 in Lund–Mackay computed tomography (LMK-CT) score (dupilumab only [primary] and vs placebo [secondary]), sinus Total …

Aggressive Natural Killer Cell Leukemia: A Rare And Rapidly Progressive Hematologic Malignancy—Case Report And Literature Review, Jennifer Priessnitz, Ali Hariri, Yuliya Levkiavska, Kyle E. Bonner, Stephan I. Fisher, Joshua M. Sill

Department of Medicine Faculty Publications

Aggressive natural killer cell leukemia (ANKL) is a rare, fulminant hematologic malignancy characterized by neoplastic proliferation of mature NK cells. It is frequently associated with Epstein-Barr virus (EBV) infection, although EBV-negative cases have also been reported. While typically observed in young to middle-aged adults of East Asian descent, increasing recognition has led to identification of ANKL across diverse age groups and ethnicities. The disease is defined by a rapid clinical course and poor prognosis, underscoring the importance of early diagnosis and effective treatment. We present a case of a 71-year-old Caucasian male who developed fever, altered mental status, hepatosplenomegaly, pancytopenia, …

Selenium And Liver Steatosis And Fibrosis: Opposing Direct And Steatosis-Mediated Associations In A Large Cohort, Neda Rehan, Jubilee Benedict, Rehan Qayyum

Department of Medicine Faculty Publications

Background and Aims

Epidemiologic studies have reported conflicting associations between selenium exposure and liver disease. Whether selenium exerts opposing direct and steatosis-mediated effects on liver fibrosis is unknown. To evaluate the associations of blood selenium with elastography-defined hepatic steatosis and fibrosis and to determine whether hepatic steatosis mediates the relationship between selenium and fibrosis.

Methods

We conducted a cross-sectional analysis of adults aged >= 18 years in NHANES 2017-2023. Hepatic steatosis was assessed using the controlled attenuation parameter (CAP) and fibrosis using liver stiffness measurement (LSM). Blood selenium was categorized into quartiles. Survey-weighted multivariable linear regression and structural equation modeling …

Plasmacytoma As The Initial Presentation Of Multiple Myeloma: A Case Report, Chantelle Martin, Sidra Memon, Austin Kim, Saleha Asghar

Advances in Clinical Medical Research and Healthcare Delivery

We report an unusual case of a woman who presented with nonspecific symptoms of unilateral facial mass and bleeding from her lower lip over several weeks. The mass was found to be relatively fixed and irregular with destruction of facial bone as evidenced by imaging. Initial investigations indicated the possibility of multiple myeloma, which was later confirmed with serum protein electrophoresis and bone marrow biopsy. Cervical lymph node biopsy confirmed presence of plasmacytoid cells positive for CD 20.

Effect Of Valemetostat On The Pharmacokinetics Of Midazolam And Digoxin: A Phase 1 Drug-Drug Interaction Study In Patients With Non-Hodgkin Lymphoma, Masaya Tachibana, Steven Horwitz, Eric Jacobsen, Francine Foss, Pamela Allen, Pierluigi Porcu, Tatyana Feldman, Jia Ruan, Jonathan Brammer, Jie Wang, Shinichi Inaba, Yuka Iko, Keiko Nakajima, Yasuyuki Kakurai, Noriaki Kitami, Yang Chen, Yvonne Lau

Department of Medicine Faculty Papers

Valemetostat tosylate (valemetostat) is an oral, potent, dual inhibitor of enhancer of zeste homolog (EZH)2/1, under investigation in non-Hodgkin lymphomas (NHLs) and solid tumors. In vitro, it inhibits cytochrome P450 3A (CYP3A) and P-glycoprotein (P-gp) when combined with sensitive CYP3A or P-gp substrates. This drug–drug interaction (DDI) sub-study is part of the phase 1 trial of valemetostat monotherapy (DS3201-A-J101; NCT02732275), assessing the effect of valemetostat on the pharmacokinetics (PK) of sensitive CYP3A and P-gp substrates midazolam and digoxin, respectively, in patients with relapsed or refractory NHL, and its safety and efficacy. Patients received two simultaneous single doses of midazolam and …

Artificial Intelligence In The Management Of Leukemia, Stephanie Koo, Austin P. Runde, Melvin Speisman

School of Medicine

BACKGROUND: Recently, given the demonstrated ability of AI to accurately characterize complex pathologies, AI has been proposed to be of use in the diagnosis, treatment, and monitoring of leukemias given their genetic complexity and subtype heterogeneity, array of treatments, and need for relapse detection. AI has several potential applications in the management of leukemia. First, it can be used to detect leukemia; using AI to detect nuances in lab values can ensure these deadly cancers are never missed. Second, AI can be used to risk-stratify patients and personalize treatments; leukemias are among the most genetically complex cancers with well-characterized risk …

The Immunophenotypic And Genetic Characterization Of Pediatric T -L Ymphoblastic Leukemia With A Mature Immunophenotype, Mahsa Khanlari, Wei Wang, Parastou Tizro, Mohammad K Eldomery

Faculty, Staff and Student Publications

Not available.

Radiologic Findings Of A Mediastinal Mass With Pleural Fluid Cytologic Analysis: A Case Report Of Recurrent Mantle-Cell Lymphoma, Mark Cwajna, Zaain Ahmad, Evan Basha, Emily Maggioncalda, Shehbaz Ahmad, Joel Thompson

Advances in Clinical Medical Research and Healthcare Delivery

This case report details a 69-year-old male who presented with a right-sided pleural effusion and a mediastinal mass that was ultimately identified as recurrent mantle-cell lymphoma, occurring over 20 years after his initial diagnosis. Imaging findings discussed include chest radiograph and chest, abdomen and pelvis computed tomography depicting the mass compressing on various neighboring structures.

Cns And Retinal Radiologic Findings Of A Young Patient With Heterozygous Prothrombin G20210a Gene Mutation, Justina Kasteri, Timothy Ehmann, Bryan Scott

Advances in Clinical Medical Research and Healthcare Delivery

Stroke is one of the leading causes of death and acquired long-term disability in the world.¹ In United States stroke is the 5^th leading cause of death with a mortality rate of 49.1 deaths per 100,000 people.² Strokes can be ischemic or hemorrhagic in origin, of which 85% are ischemic strokes. Approximately 10--15% of ischemic strokes occur in patients 18-50 years of age, and inherited thrombophilia may be a contributing factor through induction of a hypercoagulable state. Prothrombin G20210A mutation has an overall prevalence of approximately 2% of the general population, with an association between young patients …

Fractional Flow Reserve From Coronary Ct: Evidence, Applications, And Future Directions, Arta Kasaeian, Mohadese Ahmadzade, Taylor Hoffman, Mohammad Ghasemi-Rad, Anoop Padoor Ayyappan

Faculty, Staff and Students Publications

Coronary computed tomography angiography (CCTA) has emerged as the leading noninvasive imaging modality for the assessment of coronary artery disease (CAD), offering high-resolution visualization of the coronary anatomy and plaque characterization. The development of fractional flow reserve derived from CCTA (FFR-CT) has further transformed the diagnostic landscape by enabling the simultaneous evaluation of both anatomical stenosis and lesion-specific ischemia. FFR-CT has demonstrated diagnostic accuracy comparable to invasive FFR. The combined use of CCTA and FFR-CT is now pivotal in a broad range of clinical scenarios, including the evaluation of stable and acute chest pain, assessment of high-risk and complex plaque …

Ptpn11 Mutations Define A Rare But Highly Adverse Subset Of Myelodysplastic Syndromes, Alexandre Bazinet, Alex Bataller, Guillermo Montalban-Bravo, Kelly Chien, Koji Sasaki, Wei Ying Jen, Mahesh Swaminathan, Tapan Kadia, Courtney Dinardo, Farhad Ravandi, Guillermo Garcia-Manero, Hagop Kantarjian

Faculty, Staff and Student Publications

No abstract provided.

Risk Of Early Death After Acute Leukemia Diagnosis Among Adolescents And Young Adults, Amy M Berkman, Clark R Andersen, Vidya Puthenpura, Nicholas J Short, Kelly Merriman, Mahesh Swaminathan, Branko Cuglievan, David Mccall, Courtney Dinardo, Cesar Nunez, Nitin Jain, Tapan Kadia, Ghayas Issa, Amber Gibson, Miriam B Garcia, J Andrew Livingston, Susan Parsons, Michelle A T Hildebrandt, Michael E Roth

Faculty, Staff and Student Publications

Background: Advances in care have led to improvements in survival for adolescents and young adults (AYAs) diagnosed with cancer; however, the risk of early death remains high for certain cancers, particularly acute leukemias. Risk factors for early death in AYAs diagnosed with acute leukemia have not been well studied.

Methods: The Surveillance, Epidemiology, and End Results registry was used to assess risk of early death (within 2 months of diagnosis) in AYAs diagnosed with acute leukemia (n = 16 153). Early death proportion, by year, for AYAs diagnosed between 2006 and 2020 was described. Associations between incidence of early death …

Macular Thinning And Microvasculature Abnormalities In Children With Sickle Cell Disease: A Longitudinal Analysis, Sally S. Ong, Ann Nampomba, Sara Rahman, Loka Thangamathesvaran, Grace Reilly, Jianqiao Ma, Jay Vaidya, Sophie Lanzkron, Adrienne W. Scott

Cardeza Foundation for Hematologic Research

PURPOSE: To assess longitudinal changes in retinal thickness and vessel density (VD) in pediatric sickle cell disease (SCD).

DESIGN: A prospective cohort study.

PARTICIPANTS: Children (< 18 years old) with HbSS and HbS variant (HbSC and HbS thalassemia) genotypes were enrolled from a university-based retina subspecialty clinic from 2017 to 2019 and followed for ≥2 years.

METHODS: Participants received 3 × 3 and 6 × 6 mm OCT and OCT angiography scans at baseline and at each follow-up visit.

MAIN OUTCOME MEASURES: Retinal thickness, superficial capillary plexus (SCP), and deep capillary plexus (DCP) VD were compared over time.

RESULTS: Children with HbSS (n = 14) and HbS variant (n = 14) genotypes with ≥1 follow-up were included in the study (total 56 eyes). For HbSS, rates of retinal thinning per …

Clinical Interrogation Of Tp53 Aberrations And Its Impact On Survival In Patients With Myeloid Neoplasms, Jayastu Senapati, Sanam Loghavi, Guillermo Garcia-Manero, Guillin Tang, Tapan Kadia, Nicholas J Short, Hussein A Abbas, Naszrin Arani, Courtney D Dinardo, Gautam Borthakur, Naveen Pemmaraju, Betul Oran, Elizabeth Shpall, Uday Popat, Richard Champlin, Sherry Pierce, Sankalp Arora, Ghayas Issa, Musa Yilmaz, Keyur Patel, Koichi Takahashi, Guillermo Montalban-Bravo, Danielle Hammond, Fadi G Haddad, Farhad Ravandi, Hagop M Kantarjian, Naval G Daver

Faculty, Staff and Student Publications

In myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with TP53 aberrations, dissecting the interaction amongst patient, disease and treatment factors are important for therapeutic decisions and prognostication. This retrospective analysis included patients with newly diagnosed MDS (>5% blasts) and AML with TP53 mutation(s) treated at MD Anderson Cancer Center. We factored patient age, TP53 aberration burden, therapy intensity and use of venetoclax in the AML subgroup, and allogeneic hematopoietic stem cell transplantation (HSCT) to interrogate outcomes. TP53 was annotated as high-risk (TP53HR) if >1 mutation, one mutation plus allelic deletion or a single mutation with variant allele frequency …

Identifying Distinct Subgroups With Severe Pain In Sickle Cell Disease: A Cluster Analysis Of The Grndad Multi-Center Registry, Martha O. Kenney, Samuel Wilson, Morgan Rosser, Sophie Lanzkron, Julie Kanter, Susan Padrino, Payal Desai, Deepa Manwani, Alice Cohen, Stephanie Guarino, Ward Hagar, Joshua Field, Jane Little

Department of Medicine Faculty Papers

Sickle cell disease (SCD) affects millions of individuals worldwide, and is characterized by both acute, episodic pain and chronic, persistent pain. Despite the significant burden of the disease, clinicians continue to face significant challenges in treating SCD pain due to variability in pain experiences. The objectives of this study were (1) to identify distinct pain subgroups based on demographic and biopsychosocial characteristics and (2) to evaluate the relationship between the subgroups and pain impact - a SCD-disease specific measure of pain interference. To achieve these objectives, we performed a hierarchical cluster analysis on a cross-sectional sample of adults with SCD …

A Ticking Time Bomb: An Overview Of A Case Report Of Neutropenic Fever Secondary To Tick-Borne Illness, Yasemin Galiboglu, Danielle Thor, Joann Ha, Kristine Wong, Cindy Hou

Rowan-Virtua Research Day

The advent of immunomodulatory therapies and their ever-expanding number of treatment indications necessitates the understanding of their associated complications. Neutropenic fever serves as an example of these complications often encountered in clinical practice. Although neutropenic fever can result from virtually any pathogen, episodes of the syndrome secondary to tick-borne illness remain relatively undocumented in the scientific literature. In the case presented, a 77-year-old female with a pertinent past medical history of smoldering IgG multiple myeloma on active immunosuppressive therapy presented with a first-time episode of neutropenic fever likely secondary to tick-borne illness. Through this overview of a broader report, attention …

Prospective Clinical Trials Of Venetoclax And Hypomethylating Agents For Relapsed Bpdcn, Naveen Pemmaraju, Luan Hai Phan, Geoffrey Fell, Marlise R Luskin, Mahesh Swaminathan, Sherry Pierce, Courtney Dinardo, Abhishek Maiti, Marina Konopleva, Andrew A Lane

Faculty, Staff and Student Publications

No abstract provided.

Case Report: Myeloid Neoplasms With The T(3;12)(Q26.2;P13.1)/ Mecom-Etv6 Translocation: Report Of Two New Cases And Review Of The Literature, Soumya Mikkilineni, Juan Pablo Pineda-Reyes, Lindsay Wilde, Andres Ferber, Zi-Xuan Wang, Stephen Peiper, Guldeep Uppal, Md, Jerald Gong, Jinglan Liu

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The MECOM (MDS1 and EVI1 complex locus) gene, located at 3q26.2, encodes an oncogenic transcription factor implicated in multiple signaling pathways. Rearrangements involving MECOM/3q26.2, including inversions, translocations, insertions and cryptic chromosomal changes, are observed in myeloid neoplasms and are associated with high-risk disease features and poor clinical outcomes. The translocation t(3;12)(q26.2;p13.1) is a rare genetic event, resulting in a fusion of the MECOM gene at 3q26.2 with the ETV6 gene at 12p13.1. To date, only 78 cases of hematologic neoplasms harboring t(3;12) have been reported in the English literature, primarily as case reports or case series. T(3;12) has …

Long Term Results Of Venetoclax Combined With Flag-Ida Induction And Consolidation For Newly Diagnosed And Relapsed Or Refractory Acute Myeloid Leukemia, Courtney D Dinardo, Wei-Ying Jen, Koichi Takahashi, Tapan M Kadia, Sanam Loghavi, Naval G Daver, Lianchun Xiao, Patrick K Reville, Ghayas C Issa, Nicholas J Short, Koji Sasaki, Sa A Wang, Jillian K Mullin, Sherry Pierce, Corey Bradley, Gautam Borthakur, Abhishek Maiti, Yesid Alvarado, Naveen Pemmaraju, Alessandra Ferrajoli, Mahesh Swaminathan, Maro Ohanian, Hussein A Abbas, Danielle Hammond, Jan Burger, Fadi Haddad, Guillermo Montalban-Bravo, Kelly Chien, Lucia Masarova, Musa Yilmaz, Nitin Jain, Michael Andreeff, Guillermo Garcia-Manero, Steven Kornblau, Farhad Ravandi, Elias Jabbour, Marina Y Konopleva, Hagop M Kantarjian

Faculty, Staff and Student Publications

Intensive chemotherapy remains the standard for newly diagnosed (ND) acute myeloid leukemia (AML); however, relapse risk remains high. Additionally, most patients with relapsed/refractory (RR) AML have poor outcomes. We report the long-term experience of 138 patients, 77 ND and 61 RR, treated with FLAG-IDA in combination with venetoclax. In the ND cohort, the overall response rate (ORR) was 97%, with a composite complete remission (CRc) rate of 95% and undetectable measurable residual disease (MRD) status by flow cytometry in 90%. The 3-year OS and EFS rates were 66 and 64%, respectively. Outcomes were similar across European LeukemiaNet (ELN) 2022 risk …

Oral Decitabine Cedazuridine With And Without Venetoclax In Higher-Risk Myelodysplastic Syndromes Or Chronic Myelomonocytic Leukemia: A Propensity Score-Matched Study, Alex Bataller, Koji Sasaki, Samuel Urrutia, Guillermo Montalban-Bravo, Alexandre Bazinet, Kelly Chien, Danielle Hammond, Ian M Bouligny, Mahesh Swaminathan, Ghayas Issa, Nicholas Short, Naval Daver, Courtney D Dinardo, Tapan Kadia, Elias Jabbour, Farhad Ravandi, Gail J Roboz, Michael Savona, Elizabeth A Griffiths, James Mccloskey, Olatoyosi Odenike, Aram Oganesian, Harold N Keer, Mohammad Azab, Hagop Kantarjian, Guillermo Garcia-Manero

Faculty, Staff and Student Publications

Hypomethylating agents (HMA) are indicated in the treatment of higher-risk myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML). The combination of hypomethylating agents with venetoclax (Ven) has demonstrated promising results in these diseases, although randomized clinical trials are needed for validation. In this retrospective study, we compared two matched cohorts of patients with MDS or CMML: one receiving oral decitabine-cedazuridine (DEC-C, n = 73) and one receiving DEC-C and Ven (DEC-C-Ven, n = 51), in three contemporary clinical trials. The aim is to determine the impact of the addition of Ven to HMA in MDS and CMML. Individuals were matched …

Cryptic Kmt2a::Afdn Fusion Due To Afdn Insertion Into Kmt2a In A Patient With Acute Monoblastic Leukemia, Qing Wei, Gokce A Toruner, Beenu Thakral, Keyur P Patel, Naveen Pemmaraju, Sa A Wang, Rashmi Kanagal-Shamanna, Guilin Tang, Ghayas C Issa, Sanam Loghavi, L Jeffrey Medeiros, Courtney Dinardo

Faculty, Staff and Student Publications

Background: KMT2A rearrangements occur in ~10% of acute myeloid leukemia (AML) cases and are critical for classification, risk stratification, and use of targeted therapy. However, insertions involving the KMT2A gene can evade detection using chromosomal analysis and/or fluorescence in situ hybridization (FISH).

Methods: We present a case of a 22-year-old woman with acute monoblastic leukemia harboring a cryptic KMT2A::AFDN fusion identified by RNA sequencing. Initial FISH showed a 3' KMT2A deletion, while conventional karyotyping and the automated bioinformatic pipeline for optical genome mapping (OGM) did not identify the canonical translocation.

Results: To resolve these discrepancies, metaphase KMT2A FISH (break-apart fusion …