Comparison of a Specialized Large Language Model with GPT-4o for CT and MRI Radiology Report Summarization.

Background Although the general-purpose large language model (LLM) GPT-4o (OpenAI) has shown promise in radiology language processing, it remains unclear whether the performance of GPT-4o in report summarization is better than that of an LLM specifically designed for this task. Purpose To compare the performance of a specialized LLM with that of GPT-4o in the comprehensive summarization of radiology reports. Materials and Methods A specialized LLM for report summarization (LLM-RadSum) was developed using retrospectively collected reports from a hospital, divided into training and internal test sets (9:1 ratio).

Immunophenotypic, cytogenetic, and mutational features of chronic lymphocytic leukemia/small lymphocytic lymphoma with atypical immunophenotype.

Flow cytometric analysis plays an important role in the diagnosis of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Most CLL cases show a typical immunophenotype characterized by the expression of CD5, CD23, CD43, ROR1, and CD200, along with dim expression of B-cell markers. However, some show an atypical immunophenotype.

Optical Genome Mapping in Myelodysplastic Syndromes: Clinical Value and Limitations Derived from a Cohort of 236 Patients.

Identification of cytogenetic abnormalities is critical for the classification and risk stratification of myelodysplastic syndromes (MDS). Optical genome mapping (OGM) is an emerging cytogenomic platform that enables high-resolution genome-wide cytogenetic analysis. We analyzed bone marrow specimens of 236 MDS patients, 149 newly diagnosed and 87 with relapsed/refractory disease, using OGM, conventional karyotyping and next-generation sequencing analysis.

Contemporary outcomes of octa-nonagenarians with newly diagnosed acute myeloid leukemia.

Background: Octa-nonagenarians with acute myeloid leukemia (AML) represent a high-risk group due to frequently poor performance status, adverse genomics (e.g., TP53 mutations, complex karyotype), a high incidence of secondary AML, and inability to undergo an allogeneic stem cell transplantation.

Outcomes of Patients With Multiple Myeloma With deletion 1p Following Autologous Stem Cell Transplant.

Background: Several studies have suggested that a deletion in the short arm of chromosome 1 (del(1p)) is an independent adverse prognostic factor in patients with multiple myeloma (MM). However, its impact on outcomes of patients undergoing autologous hematopoietic cell transplantation (autoHCT) and receiving contemporary anti-myeloma therapy remains unclear.

Study Design: A retrospective, single-center analysis of newly diagnosed MM (NDMM) patients with del(1p) who underwent upfront autoHCT between 2010 and 2021.

Erythroid-predominant myelodysplastic neoplasms exhibit a distinct genomic landscape with poor outcomes after venetoclax-based therapy.

Erythroid differentiation confers BCL-XL dependence and venetoclax resistance in acute myeloid leukemia (AML). However, whether myelodysplastic neoplasms (MDS) with erythroid predominance (EP), defined by ≥50% erythroid bone marrow elements, have distinct biology and drug sensitivities remains unknown. To study this, we evaluated an MDS patient cohort (n = 371) and showed that EP MDS (n = 67, 18%) are characterized by higher TP53 (multihit TP53: 36% vs 17%, p = 0.

Low CD25 in ALK+ Anaplastic Large Cell Lymphoma Is Associated with Older Age, Thrombocytopenia, and Increased Expression of Surface CD3 and CD8.

Background/objectives: Anaplastic lymphoma kinase (ALK)-positive (+) anaplastic large cell lymphoma (ALCL) is known to express CD25, but its significance has not been well studied.

Methods: In the present study, we identified 54 ALK+ ALCL patients with CD25 results available and investigated the significance of CD25 expression levels.

Results: Forty-two (78%) cases had high CD25 expressions, whereas low CD25 expressions were found in 12 (22%) cases.

Trisomy 8 in De Novo Acute Myeloid Leukemia Lacking MDS-Related Cytogenetics Does Not Significantly Influence Survival.

Introduction: The 2022 WHO and ICC classifications identify MDS-related cytogenetic abnormalities and secondary gene mutations (SM) that in de novo disease are diagnostic of myelodysplasia-related AML, which confers a poorer prognosis. While most MDS-related abnormalities overlap between the two classifications, trisomy 8 (+8) is unique to the ICC and has not been previously included as an MDS-related abnormality. In light of this, we sought to determine the prognostic significance of +8 as an MDS-related abnormality in patients with de novo AML lacking other MDS-related cytogenetics.

Outcomes of Multiple Myeloma Patients With Prior Solid Tumors Undergoing Autologous Transplantation.

Upfront autologous hematopoietic cell transplantation (autoHCT) remains standard of care for eligible patients with newly diagnosed multiple myeloma (MM). Comorbidities are routinely evaluated to determine eligibility and estimate mortality after autoHCT, including the history of prior solid tumor (PST). While PST is considered high-risk for worse survival based on widely used risk indices, its independent impact on transplant outcomes in MM remains unclear.

Optical genome mapping reveals diverse mechanisms of cyclin activation in mantle cell lymphomas lacking IGH::CCND1.

The t(11;14)(q13; q32)/IGH::CCND1 is a genetic hallmark of mantle cell lymphoma (MCL), reported to be present in about 95% of cases. In this study, we performed optical genome mapping (OGM) on 91 patients with MCL, in conjunction with next-generation sequencing (NGS), conventional chromosomal analysis and fluorescence in situ hybridization (FISH). The t(11;14)/IGH::CCND1 was detected in 82 cases, whereas 9 (10%) cases lacked this abnormality.

Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies.

Background And Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies.

Methods: The study cohort comprised 519 cases with different types of hematological malignancies. OGM and SCGW (including G-banded karyotyping and fluorescence in situ hybridization) were performed on blood and/or bone marrow.

Unusually Indolent CML: Absence of Complete Cytogenetic Response after 10 Years of Tyrosine Kinase Inhibitor Therapy.

Background: With BCR::ABL1 tyrosine kinase inhibitor (TKI) therapy, most patients with chronic-phase chronic myeloid leukemia (CML-CP) can achieve complete cytogenetic response (CCyR) within 6 months of therapy. However, no studies have investigated patients who do not achieve CCyR yet maintains stable disease on long-term TKI treatment. Here we investigated 30 CML-CP patients who did not achieve CCyR but remained free of blastic progression for at least 10-year while on TKI therapy.

A Case of Cryptic CBFB::MYH11 Acute Myeloid Leukemia With Noncanonical Breakpoints Detected by Optical Genome Mapping.

Accurate and timely detection of clinically relevant genetic abnormalities, such as CBFB::MYH11 or inversion(16) [inv(16)], is critical for the diagnosis and management of patients with acute myeloid leukemia (AML). Notably, CBFB::MYH11 is a disease-defining mutation in AML and is associated with a favorable prognosis. The current standard-of-care workup, which includes a combination of conventional G-banding karyotyping, fluorescence in situ hybridization (FISH), and/or reverse-transcriptase PCR, poses challenges in detecting variant CBFB::MYH11 translocations.

Acute lymphoblastic leukaemia with T- and B-lineage defining markers.

In acute lymphoblastic leukaemia (ALL), cytoplasmic CD3 (cCD3) is a defining marker for T-lineage, and CD19 plus additional B-cell marker(s) for B-lineage. We identified 23 ALL cases in which the lymphoblasts expressed both cCD3 and CD19, making lineage assignment challenging. These cases represented approximately 10% of cCD3+ ALL and expressed a median of two additional B-cell markers other than CD19, including CD79a (76%), CD22 (22%), PAX5 (57%) and CD10 (44%).

Novel Recurrent Cytogenetic Abnormalities Predict Overall Survival in Tetraploid/Near-Tetraploid Myelodysplastic Syndrome and Acute Myeloid Leukemia.

Background/objectives: Tetraploidy (4n = 92 chromosomes) and near-tetraploidy (81-103 chromosomes) (T/NT) are uncommon cytogenetic events in MDS/AML (~1%). Abnormalities reported to be associated with T/NT MDS/AML include -5/del(5q), -7/del(7q), +8, and +21. However, other clinically relevant abnormalities likely remain "hidden" in long strings of ISCN cytogenetic nomenclature when evaluated visually.

Concurrent Bone Marrow Acute Undifferentiated Leukemia and Mediastinal T-Lymphoblastic Lymphoma With Identical Fusion and and Mutations.

Acute undifferentiated leukemia (AUL) is a rare hematologic malignancy lacking lineage-specific markers. Concurrent, clonally related AUL and T-lymphoblastic lymphoma (T-LBL) has not been reported previously. Here we describe a patient who was diagnosed with AUL in the bone marrow and T-LBL in the mediastinum after a thorough immunophenotyping by flow cytometry and immunohistochemistry.

Inferior Outcomes in Acute Lymphoblastic Leukemia With Translocation (14;18).

Introduction: The (14;18)(q32;q21) chromosomal translocation leading to IGH::BCL2 rearrangement, has been rarely described in B-cell acute lymphoblastic leukemia (B-ALL), mainly in association with MYC rearrangement. The outcome of B-ALL harboring t(14;18)(q32;q21) without MYC rearrangement remains unknown.

Methods: We retrospectively reviewed 2778 cases of B-ALL treated at our institution and identified those harboring a t(14;18)(q32;q21) by karyotype.

Azacitidine, Venetoclax, and Magrolimab in Newly Diagnosed and Relapsed Refractory Acute Myeloid Leukemia: Phase Ib/II Study and Correlative Analysis.

Purpose: Magrolimab is a monoclonal antibody directed against the macrophage checkpoint CD47 on myeloid leukemia cells that was preclinically synergistic with azacitidine-venetoclax, warranting further clinical evaluation.

Patients And Methods: In this phase Ib/II study, the triplet combination of azacitidine, venetoclax, and magrolimab was evaluated in adult patients with first-line (ineligible for intensive chemotherapy) and relapsed/refractory acute myeloid leukemia. Azacitidine was dosed at 75 mg/m2 for 7 days, venetoclax at 400 mg/day for 28 days, and magrolimab (recommended phase II dose) as follows: 1 mg/kg dose on days 1 and 4, 15 mg/kg on day 8, and 30 mg/kg on days 11, 15, and 22 (cycle 1), followed by 30 mg/kg weekly for cycle 2 and then 30 mg/kg every 2 weeks for cycle 3 and beyond.

Outcomes of patients with multiple myeloma undergoing autologous transplant with suboptimal pretransplant response.

There are scarce data in the literature focusing on newly diagnosed multiple myeloma (NDMM) patients who undergo autologous haematopoietic cell transplantation (autoHCT) after achieving suboptimal response to induction. To address this, we performed a retrospective, single-centre analysis of patients with NDMM who underwent upfront autoHCT between 2005 and 2021 with a pretransplant response of less than very good partial response ( View Article and Find Full Text PDF

Cryptic Fusion Due to Insertion into in a Patient with Acute Monoblastic Leukemia.

Background: 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 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 fusion identified by RNA sequencing.

Characteristics and survival outcomes of patients with myelodysplastic syndromes with isolated 11q deletion.

Myelodysplastic syndrome (MDS) with isolated deletion 11q is a rare favorable cytogenetic abnormality with a low risk of progression to acute myeloid leukemia (AML). The aim of this study is to describe the clinical characteristics and long-term outcomes of patients with isolated del(11q) MDS. Between August 1997 and January 2024, 52 patients with MDS and isolated del(11q) were diagnosed, representing 0.