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Objectives: The 2021 Society for Hematopathology and European Association for Haematopathology Workshop addressed the molecular and cytogenetic underpinnings of transformation and transdifferentiation in lymphoid neoplasms.
Methods: Session 4, "Transformations of Follicular Lymphoma," and session 5, "Transformations of Other B-Cell Lymphomas," included 45 cases. Gene alteration analysis and expression profiling were performed on cases with submitted formalin-fixed, paraffin embedded tissue.
Results: The findings from session 4 suggest that "diffuse large B-cell lymphoma/high-grade B-cell lymphoma with rearrangements of MYC and BCL2" is a distinct category arising from the constraints of a preexisting BCL2 translocation. TdT expression in aggressive B-cell lymphomas is associated with MYC rearrangements, immunophenotypic immaturity, and a dismal prognosis but must be differentiated from lymphoblastic -lymphoma. Cases in session 5 illustrated unusual morphologic and immunophenotypic patterns of transformation. Additionally, the findings support the role of cytogenetic abnormalities-specifically, MYC and NOTCH1 rearrangements-as well as single gene alterations, including TP53, in transformation.
Conclusions: Together, these unique cases and their accompanying molecular and cytogenetic data suggest potential mechanisms for and unusual patterns of transformation in B-cell lymphomas and indicate numerous opportunities for further study.
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http://dx.doi.org/10.1093/ajcp/aqad042 | DOI Listing |
J Pathol Transl Med
September 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine (UCI), Irvine, CA, USA.
Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is a clinically indolent lymphoproliferative disorder characterized by accumulation of mature B-cell lymphocytes. Given the common CD5 co-expression, mantle cell lymphoma (MCL) is one of the most important entities in the differential diagnosis. MCL and CLL/SLL might exhibit overlapping morphologic and immunohistochemical features, making diagnosis particularly difficult in cases of composite lymphomas.
View Article and Find Full Text PDFAnn Hematol
September 2025
Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany.
The IPSS-M was developed to revolutionize the prediction of MDS patients' survival by incorporating molecular data. To compensate for lack of access to molecular analyses, the AIPSS-MDS, a supervised machine learning algorithm exclusively based on clinical and cytogenetic data, was developed by the Spanish MDS Group. We used data of the Düsseldorf MDS Registry and included 207 of more than 8500 registry patients whose IPSS-M-requested complete molecular data were known to compare and validate prognostication regarding OS and LFS of the IPSS-M, IPSS-R and AIPSS-MDS.
View Article and Find Full Text PDFMol Genet Genomic Med
September 2025
Cytogenetic Laboratories, Shahid Beheshti Hospital, Hamadan University of Medical Sciences, Hamadan, Iran.
Background: Recurrent Implantation Failure (RIF) is defined as the inability to establish pregnancy despite high-quality embryo transfer after the application of at least three consecutive in vitro fertilization (IVF)/intracytoplasmic sperm injection-embryo transfer procedures. Chromosomal abnormalities are one of the primary reasons for pregnancy failure, miscarriage, and birth defects in both natural conception and IVF pregnancies. This study was to evaluate the incidence of chromosomal abnormalities in peripheral blood samples from 100 couples who experienced RIF.
View Article and Find Full Text PDFDown syndrome is a risk factor for Hirschsprung's disease. However, the amniotic band sequence does not directly correlate. We present a patient with Down syndrome and associated Hirschsprung's disease, who exhibited findings consistent with amniotic band sequence.
View Article and Find Full Text PDFCureus
August 2025
Medical Oncology, The Gujarat Cancer and Research Institute, Ahmedabad, IND.
Introduction Chronic myelogenous leukemia (CML) in pediatric and adolescent populations is relatively rare. The present study provides an integrated approach to evaluate the impact of molecular and cytogenetic response on long-term outcomes in these populations by incorporating demographic factors and hematological parameters, and to explore their clinical relevance in resource-limited settings. Material and methods A retrospective analysis was conducted on patients <18 years with newly diagnosed CML from January 2014 to December 2023 at the Gujarat Cancer and Research Institute in India.
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