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Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent and mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.
Leuk Lymphoma
January 2025
Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Various aspects of myeloproliferative chronic myelomonocytic leukemia (MP-CMML) and myelodysplastic CMML (MD-CMML) have been reported but inconsistencies remain. This study conducted a comprehensive retrospective analysis of clinical, pathological, and molecular data from a cohort of CMML. The results revealed a higher frequency of and mutations and a greater mutation burden in MP-CMML, characterized by more tier 1 or 2 variants and dominant mutations.
View Article and Find Full Text PDFThe expression of BHLHE22 in endometrial carcinoma: Associations with mismatch repair protein expression status, tumor-infiltrating immune cells, programmed death-ligand 1 and clinical outcomes.
Taiwan J Obstet Gynecol
January 2025
Department of Pathology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, 23561, Taiwan; Department of Pathology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, 11031, Taiwan. Electronic address:
Objective: Endometrial cancer (EC) shows substantial heterogeneity in their immune microenvironment. BHLHE22 is consistently hypermethylated in EC and high expression of BHLHE22 is likely to be immunosuppressive in the tumor microenvironment. Herein, we evaluated expression of BHLHE22, programmed cell death ligand-1 (PD-L1), CD8, CD68 and mismatch repair proteins in EC.
View Article and Find Full Text PDFDetection of Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.
Cancers (Basel)
December 2024
Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA.
partial tandem duplication (PTD) involves intragenic duplications and has been associated with poorer prognosis. In this study, we evaluated PTD in 1277 patients with hematological malignancies using optical genome mapping (OGM). PTD was detected in 35 patients with acute myeloid leukemia (AML) (7%), 5 patients with myelodysplastic syndrome (MDS) (2.
View Article and Find Full Text PDFPediatric Myeloid Neoplasms With UBTF Tandem Duplications: Morphologic, Immunophenotypic, and Clinical Characterization.
Am J Surg Pathol
January 2025
Department of Pathology, St. Jude Children's Research Hospital.
Article Synopsis
- Tandem duplications (TDs) in the UBTF gene are a recently identified genetic alteration linked to pediatric and adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), establishing UBTF-TD as a distinct subtype of AML.
- A study of 27 pediatric patients revealed that UBTF-TD is commonly associated with symptoms like cytopenia and characteristic changes in bone marrow, such as erythroid hyperplasia and trilineage dysplasia.
- The findings suggest that patients with MDS and AML exhibiting UBTF-TD have similar prognoses, indicating that both conditions may represent different manifestations of the same underlying disease.
A Case of Chronic Myelomonocytic Leukemia With Recurrent Skin Involvement.
Cureus
December 2024
Pathology Department, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, TUR.
Article Synopsis
- Chronic myelomonocytic leukemia (CMML) is a complex blood cell disorder that combines poorly functioning and overproducing blood cells, leading to various symptoms.
- The case study focuses on a 71-year-old man with severe CMML who experienced skin nodules that improved with treatment but later recurred, while avoiding progression to acute leukemia.
- The findings emphasize the importance of close monitoring and flexible treatment approaches for patients with CMML, especially those with skin involvement.
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