Introduction: Sebaceous carcinoma (SC) is a malignant neoplasm differentiated from the mature sebocyte and occurs mainly in the periorbital area. However, SC of the breast is extremely rare. We report a case of sebaceous breast carcinoma in a Japanese man with a pathogenic variant.
Case Presentation: A 77-year-old Japanese man had been aware of a mass in his right breast for about a year and had visited his previous physician for a follow-up. Over the next year, the mass grew, and the last doctor he visited referred him to our hospital for further examination and treatment. Physical examination revealed a palpable 3-cm-large mass of the right breast. There was no skin invasion, and core needle biopsy revealed invasive ductal carcinoma cT2N1M0 cStage IIB, estrogen receptor (+)/progesterone receptor (+)/HER2/ (-)/Ki-67 labeling index: 27.8%. His daughter had a history of breast cancer, and he had a pathogenic variant. The patient underwent a total right mastectomy and axillary lymph node dissection. Pathological diagnosis was primary SC of the breast, pT2N0M0, pStage IIA. His postoperative clinical course was good. Postoperatively, the patient received endocrine therapy and S-1 for 1 year and is currently receiving endocrine therapy alone. One year and 5 months have passed since the operation, with no recurrence or metastasis noted.
Conclusions: The prognosis of SC of the breast has not been elucidated. As cases of SC with a pathogenic variant are exceedingly rare, it will be necessary to continue accumulating cases in the future to understand this disease further. This research is essential to elucidating SC.
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http://dx.doi.org/10.70352/scrj.cr.24-00543 | DOI Listing |
ACS Sens
March 2025
Centre for Innovative Materials for Health, School of Chemical Sciences, The University of Auckland, 23 Symonds Street, Auckland 1010, New Zealand.
Herein, a novel and simple electrospray (ES) printing technique was developed for the fabrication of ultrathin graphene layers with precisely controlled nanometer-scale thickness, where graphene oxide (GO) was electrosprayed on wafers and subsequently chemically reduced into reduced GO (rGO). Utilizing that technique, we prepared ultrathin rGO in-plane graphene field-effect transistor (GFET)-based biosensors coupled with a portable prototype measuring system for point-of-care detection of pathogens. We illustrate the use of such prepared GFETs to detect COVID-19, using the SARS-CoV-2 nucleocapsid protein antigen (N-protein) and genomic viral RNA as detection targets.
View Article and Find Full Text PDFPsychiatr Genet
February 2025
Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Heterozygous variants in the Early B cell factor 3 (EBF3) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual with neurodevelopmental delay and behavioural problems.
View Article and Find Full Text PDFJ Allergy Clin Immunol
March 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn. Electronic address:
Background: The few reported patients with pathogenic IRF8 variants have manifested 2 distinct phenotypes: (1) an autosomal recessive severe immunodeficiency with significant neutrophilia and absence of or significant decrease in monocytes and dendritic cells and (2) a dominant-negative form with only a decrease in conventional type 2 dendritic cells (cDC2s) and susceptibility to mycobacterial disease.
Objectives: Genetic testing of a child with persistent EBV viremia identified a novel IRF8 variant: c.1279dupT (p.
Epileptic Disord
March 2025
Division of Child Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.
Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.
Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.
Clin Cancer Res
March 2025
Hospital for Sick Children, Toronto, Ontario, Canada.
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition condition characterized by a high lifetime risk for a wide spectrum of malignancies associated with germline pathogenic/likely pathogenic (P/LP) variants in the TP53 tumor suppressor gene. Secondary malignant neoplasms are particularly common. Early cancer detection through surveillance enables early intervention and leads to improved clinical outcomes with reduced tumor-related mortality and treatment-related morbidity.
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