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Concomitant Waldenström Macroglobulinemia/Lymphoplasmacytic Lymphoma and Non-Immunoglobulin M Plasma Cell Neoplasm.
Arch Pathol Lab Med
January 2025
the Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles (Petersen, Stuart, He, Ju, Ghezavati, Siddiqi, Wang).
Context.—: The co-occurrence of plasma cell neoplasm (PCN) and lymphoplasmacytic lymphoma (LPL) is rare, and their clonal relationship remains unclear.
Objective.
Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.
J Oral Pathol Med
January 2025
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.
Background: Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.
View Article and Find Full Text PDFClinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Pathol Res Pract
January 2025
Department of Orthopaedics, the second Affiliated Hospital of Wannan Medical College, Wuhu 241000, China. Electronic address:
Background: Renal hemangioblastoma (HB) is a rare extra-central nervous system (CNS) tumor, typically not linked to Von Hippel-Lindau (VHL) Syndrome, and its underlying genetic drivers and molecular mechanisms remain elusive. The objective of this study is to investigate the clinicopathological features and molecular genetic changes of primary renal hemangioblastomas.
Methods: Herein, the clinical, imaging, clinicopathological features, and immunophenotype in 3 cases of renal HB were retrospectively analyzed.
Primary intraosseous Rosai-Dorfman disease: Clinicopathological features and an assessment of a possible relationship with IgG4-related disease.
Ann Diagn Pathol
January 2025
Department of Pathology, Peking University People's Hospital, 100044, China.
Rosai-Dorfman disease (RDD) is a rare proliferative disorder of histiocytes, and primary solitary RDD of the bone is extremely rare. Some RDDs exhibit increased immunoglobulin (Ig)G4 positive (IgG4+) plasma cell infiltration and the histopathological features of IgG4-related disease (IgG4-RD). However, the association between RDD and IgG4-RD remains unclear.
View Article and Find Full Text PDFAre there atypical sites of IgG4 related disease in head and neck region? Personal experience and literature review.
Eur Arch Otorhinolaryngol
January 2025
Department of Otolaryngology and Head and Neck Surgery, IRCSS AOU San Martino, University of Genoa, Largo Rosanna Benzi 10, 16132, Genoa, Italy.
Purpose: Immunoglobulin G4-related disease (IgG4-RD) is a complex systemic fibroinflammatory condition with different clinical manifestations affecting multiple organ systems. Despite its rarity, the disease presents diagnostic and therapeutic challenges due to its mimicry of malignancies and other immune-mediated disorders. The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease is the current state of art to confirm the diagnosis of IgG4-RD even in the absence of histological analysis.
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