Primary angiosarcoma of breast (PAB) is a very rare disease and it accounts for only 0.05% of all malignant breast tumors. We present the clinical radiological and pathological features, treatment given, and outcome of this rare disease in our institute in a period of 5 years, aiming at contributing to the knowledge of prognostic factors of this rare disease. We report a case of PAB treated at our hospital along with 2 more cases of PAB we found on retrospective analysis. The basic criterion for inclusion in the study was the presence of histopathologically confirmed primary angiosarcoma of the breast: graded into low (G1, G2) and high (G3) grades. Surgeons must be aware about its high systemic metastatic potential, atypical presentation, and diffuse nature of infiltration so that it will be diagnosed early, and undergo a margin negative excision with reconstruction after a proper metastatic evaluation.
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http://dx.doi.org/10.1007/s13193-023-01814-9 | DOI Listing |
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
World J Clin Cases
January 2025
Anshan Cancer Hospital, Anshan 114000, Liaoning Province, China.
Background: Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date.
View Article and Find Full Text PDFFront Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFRare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.
View Article and Find Full Text PDFEur Clin Respir J
January 2025
Department of Cardiothoracic Anesthesia and Intensive Care, The Heart Centre, University Hospital of Copenhagen, Denmark.
E-cigarette or vaping product use-associated lung injury (EVALI) is a potentially severe acute interstitial lung disease primarily observed in the United States, with sporadic cases reported in Europe. EVALI, though rare, could be susceptible to under-diagnosis due to limited awareness and diagnostic suspicion. We present a case of a 19-year-old male in Denmark diagnosed with severe EVALI.
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