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A 61-year-old female was referred to our hospital because of pancytopenia and febrile neutropenia. On admission, computed tomography showed mild hepatosplenomegaly and intra-abdominal abscess formation in the right pelvic region; however, no lymphadenopathy was found. Bone marrow (BM) examination showed severe fibrosis by silver staining. Several small- to medium-sized lymphocytes with a constriction in the nuclei were observed, exhibiting CD3 (-), CD10 (-), CD20 (+), BCL-2 (+-), and CD138 (+-). Genetic testing revealed that BM cells were positive for MYD88 mutation and positive for IgH rearrangement, whereas neither JAK2 nor CALR mutation was positive. A diagnosis of BM infiltration of lymphoplasmacytic lymphoma (LPL) was made. Rituximab monotherapy was administered once a week for four times. BM examination 4 weeks after the end of treatment showed that lymphoma cells had disappeared and that myelofibrosis had been almost gone. The MYD88 mutation of BM turned out to be negative at that moment.
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http://dx.doi.org/10.11406/rinketsu.64.54 | DOI Listing |
Blood Adv
September 2025
Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking, Tianjin, China.
Monoclonal gammopathy (MG) in chronic lymphocytic leukemia (CLL) portends heterogeneous outcomes, yet its molecular drivers and therapeutic implications remain undefined. In this retrospective analysis of 2,075 CLL patients (1999-2024), MG was detected in 18.47% cases, with IgM (8.
View Article and Find Full Text PDFAnticancer Res
August 2025
Department of Neurosurgery, Fukuoka University of Medicine, Fukuoka, Japan.
Background/aim: MYD88L265P mutation and CDKN2A loss are among the earliest reported aberrations identified during clonal evolution in primary central nervous system lymphoma (PCNSL), suggesting their role as driver gene mutations critical to the tumorigenesis of this disease. There is no consensus on the relationship between these mutations and prognosis. This study analyzed the incidence of MYD88L265P mutation and CDKN2A homozygous deletion (HD) in PCNSL in relation to prognosis, and whether they could be potential therapeutic targets.
View Article and Find Full Text PDFCancers (Basel)
July 2025
Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy.
Intravascular lymphoma (IVL) is a rare, aggressive subtype of non-Hodgkin lymphoma (NHL) characterized by the selective proliferation of neoplastic lymphoid cells within small and medium-sized blood vessels, most frequently of B-cell origin (IVLBCL). Its protean clinical presentation, lack of pathognomonic findings, and absence of tumor masses or lymphadenopathies often lead to diagnostic delays and poor outcomes. IVLBCL can manifest in classic, hemophagocytic syndrome-associated (HPS), or cutaneous variants, with extremely variable organ involvement including the central nervous system (CNS), skin, lungs, and endocrine system.
View Article and Find Full Text PDFEur J Neurol
August 2025
Referral Center for Neuromuscular Diseases and ALS, La Timone Hospital, Marseille, France.
Background: The myeloid differentiation primary response 88 (MYD88) protein is involved in immune processes through the activation of the toll-like receptors and the interleukin-1 receptor. The acquired MYD88 mutation enhances its activity and promotes inflammatory pathways and autoimmune diseases. Our aim was to determine the frequency of the MYD88 mutation in chronic inflammatory demyelinating polyradiculoneuropathies (CIDP) and multifocal motor neuropathy with conduction blocks (MMN) and to assess its potential effect on the phenotype of the neuropathy.
View Article and Find Full Text PDFCell Mol Life Sci
July 2025
Department of Microbiology and Parasitology, School of Pharmacy, Complutense University of Madrid, Pza. Ramón y Cajal s/n, Madrid, 28040, Spain.
MyD88 is a key mediator of Toll-like receptor (TLR) signaling, orchestrating the innate immune response upon stimulation by pathogen-associated molecular patterns (PAMPs). Structurally, MyD88 consists of a Death domain (DD), a 20-amino acid N-terminal extension, and an intermediate (INT) region that connects it to a Toll/Interleukin-1 receptor (TIR) domain. At the core of the signaling complex known as myddosome, MyD88 undergoes homopolymeric interactions to propagate the signal.
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