Background: The 5th edition of the World Health Organization Classification of Tumors of the Central Nervous System introduced a subclassification of tumors based on key molecular markers. In adult-type diffuse gliomas, isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase (TERT) promoter mutations play pivotal roles in the molecular classification. This study developed a rapid genotyping system using GeneSoC®, a real-time polymerase chain reaction (PCR) platform with microfluidic thermal cycling capable of completing 50 cycles of PCR within 20 min.
View Article and Find Full Text PDFWe present a review of mature B-cell neoplasms as described in the fifth edition of the WHO classification of haematolymphoid tumours (WHO-HAEM5). Entities have expanded, and definitions are increasingly reliant on genomic and other technologies. However, the WHO-HAEM5 employs a hierarchical structure with family (class)-level definitions that group several specific entities.
View Article and Find Full Text PDFAm J Clin Pathol
July 2025
Objective: Cytologic examination, which confirms the presence or absence of malignant cells, detects malignant cells from various organs, with adenocarcinoma as the most common histologic type. We developed a deep learning model to detect malignant cells in images obtained following effusion cytology.
Methods: The deep learning model was created using the YOLOv8 object detection algorithm (Roboflow, Inc) and 275 cases of adenocarcinoma comprising 12 182 images and 29 245 labels as well as 188 cases negative for malignancy comprising 1980 images.
Adult T-cell leukemia/lymphoma (ATLL) is an aggressive T-cell malignancy associated with human T-lymphotropic virus 1 (HTLV-1) infection. In this case study, we present a male patient diagnosed with CD30-positive ATLL, a rare pathological subtype characterized by the presence of HTLV-1-infected Hodgkin and Reed-Sternberg-like (HRS-like) cells. The patient was considered unsuitable for intensive chemotherapy due to advanced age and severe comorbidities.
View Article and Find Full Text PDFA 34-year-old man became aware of an erythematous nodule on the left nasal wing. He was treated with topical steroids and oral antibacterial agents at his local doctor, but his condition did not improve, and he was referred to our hospital. A skin biopsy revealed diffuse cellular infiltration through the dermis.
View Article and Find Full Text PDFBasal cell adenoma (BCA) and basal cell adenocarcinoma (BCAC) are salivary gland tumors with biphasic differentiation, composed of luminal ductal cells and abluminal basal cells with a high nuclear-to-cytoplasmic ratio. While BCA is a relatively common benign tumor, BCAC is a rare malignancy, and its genetic context and relationship with BCA remain unclear. We investigated 93 BCA and 36 BCAC cases to further characterize these two tumor entities from histological and molecular perspectives.
View Article and Find Full Text PDFNagoya J Med Sci
February 2025
Herein, we present a case of severe immune-related adverse events (irAEs), myocarditis with myositis, and myasthenia gravis overlap syndrome (IM3OS) in a patient receiving an immune checkpoint inhibitor (ICI), as adjuvant therapy after surgery for muscle-invasive bladder cancer. An 80-year-old woman who had undergone a total cystectomy for bladder cancer presented with ptosis, diplopia, and paralysis 18 days after receiving nivolumab, an anti-programmed cell death-1 (PD-1) monoclonal antibody, as adjuvant therapy for the first time. Initial testing revealed positive findings on the ice pack test; elevated troponin, creatine kinase, and aldolase levels; and an abnormal electrocardiogram, suggesting that the patient had developed ICI-related myocarditis, myositis, and myasthenia gravis.
View Article and Find Full Text PDFAdvancements in immunotherapy, the phenomenon of hyperprogression in cancer patients, have garnered increasing attention. We herein report a case of acute adult T-cell leukemia/lymphoma (ATL) that developed after administration of the PD-L1 inhibitor durvalumab in a patient with lung cancer. Although the patient was a carrier of human T-cell leukemia virus type 1 (HTLV-1), this was unknown prior to durvalumab treatment.
View Article and Find Full Text PDFActa Neuropathol Commun
February 2025
Diffuse hemispheric glioma H3 G34-mutant (DHG) has been identified as a distinct pediatric-type high-grade glioma, according to the World Health Organization (WHO) classification of central nervous system tumors. Widely accepted treatment options include surgery, radiation, and conventional chemotherapy. However, the efficacy of the surgical resection remains unclear.
View Article and Find Full Text PDFThe fifth edition of the WHO Classification of Haematolymphoid Tumors (WHO-HAEM5) introduces significant advancements in the understanding and diagnosis of mature T cell and NK cell, and stroma-derived neoplasms, and incorporates molecular and genetic data/findings accrued over the past years. The classification has been reorganised using a hierarchical system, employed across the fifth edition of the WHO classification of tumours of all organ systems. This review highlights recent developments, evolving concepts, and key updates since the revised fourth edition (WHO-HAEM4R).
View Article and Find Full Text PDFImmune checkpoint blockade therapy has been successfully applied in clinical settings as a standard therapy for many cancer types, but its clinical efficacy is restricted to patients with immunologically hot tumors. Various strategies to modify the tumor microenvironment (TME), such as Toll-like receptor (TLR) agonists that can stimulate innate immunity, have been explored but have not been successful. Here, we show a mechanism of acquired resistance to combination treatment consisting of an agonist for multiple TLRs, OK-432 (Picibanil), and programmed cell death protein 1 (PD-1) blockade.
View Article and Find Full Text PDFA 72-year-old male patient presented fatigue, anemia, elevated total protein, IgG, IgG4, IL-6, and vascular endothelial growth factor (VEGF) levels. Initial diagnostics suspected multiple myeloma. A plane computed tomography (CT) scan showed pneumonia and the enlargement of generalized lymph nodes.
View Article and Find Full Text PDFCD5 expression is seen in 5%-10% of de novo diffuse large B-cell lymphomas (DLBCLs). Primary large B-cell lymphoma of the central nervous system (PCNS-LBCL) also exhibits CD5 expression in a minority of cases, however, clinicopathological and molecular features remain largely unclarified. Here we present the clinical, molecular, and pathological features of 11 CD5-positive () PCNS-LBCL cases, occupying 6.
View Article and Find Full Text PDFActa Neuropathol Commun
October 2024
J Clin Exp Hematop
September 2024
MYD88 p.L265P mutation occurs in over 90% of Waldenström's macroglobulinemia (WM), which is characterized by lymphoplasmacytic lymphoma (LPL) with monoclonal IgM. WM requires careful diagnosis due to overlapping features with other B-cell malignancies.
View Article and Find Full Text PDFIn ALK-negative anaplastic large cell lymphoma (ALCL), gene rearrangements of and are considered mutually exclusive. The former predicts a favorable prognosis, while the latter is generally unfavorable. We report the first case of ALK-negative ALCL in a leukemic phase with small cell pattern transformation, harboring double-hit rearrangements of the gene by inv(6)(p25q21) and gene by TBL1XR1-TP63 inversion.
View Article and Find Full Text PDFFollicular lymphoma (FL) is a common type of B-cell lymphoma, accounting for about 20% of all lymphomas. Although FL is primarily characterized by an indolent clinical course, histological transformation (HT) remains one of the significant challenges in managing patients with FL. Here, we present a case of FL with partial large-cell transformation due to Epstein-Barr Virus (EBV) arising in a 50-year-old Japanese woman with no known immunodeficiency.
View Article and Find Full Text PDFIn 2024, the World Health Organization (WHO) launched a new classification of lymphoid neoplasms, a revision of the previously used Revised 4th Edition of their classification (WHO-4R). However, this means that two classifications are now in simultaneous use: the 5th Edition of the WHO classification (WHO-5) and the International Consensus Classification (ICC). Instead of a comprehensive review of each disease entity, as already described elsewhere, this review focuses on revisions made in both the WHO-5 and ICC from WHO-4R and discrepancies between them regarding B-cell neoplasms.
View Article and Find Full Text PDFExtranodal natural killer (NK)/T-cell lymphoma (ENKTL) is a rare subtype of non-Hodgkin lymphoma (NHL) with poor prognosis, particularly in relapsed or refractory patients. Thus, timely detection of relapse and appropriate disease management are crucial. We present two patients with ENKTL, wherein positron emission tomography-computed tomography (PET-CT) with total-body coverage after induction therapy, detected newly relapsed regions in the bone marrow of the lower leg prior to progression.
View Article and Find Full Text PDFBackground: Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphoma (EBV-posDLBCL) is an aggressive B-cell lymphoma that often presents similar morphological and immune phenotype features to that of EBV-negative DLBCL (EBV-negDLBCL).
Aims And Methods: To better understand their difference in genomic landscape, we performed whole-exome sequencing (WES) of EBV-posDLBCL and EBV-negDLBCL.
Results: This analysis revealed a new mutational signature 17 (unknown) and signature 29 (smoking) in EBV-posDLBCL as well as a specific mutational signature 24 (associated with aflatoxin) in EBV-negDLBCL.