Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case
AbstractPaget disease of bone is a metabolic disorder with a strong genetic component, characterised by pronounced disorganised bone remodelling. Complications of this disease include an increased risk of developing bone neoplasms. Here, we describe the case of a 60-year-old Italian patient with Paget disease of bone, presenting with an osteoclast-rich tumour. Our analysis of this entity, based on the clinical, morphological and genetic data (whole exome sequencing), suggests that osteoclast-rich lesions in Paget disease of bone are genetically distinct from classical giant cell tumour of bone. We discuss the importance of...
Source: European Journal of Applied Physiology - November 22, 2023 Category: Physiology Source Type: research
Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case
AbstractPaget disease of bone is a metabolic disorder with a strong genetic component, characterised by pronounced disorganised bone remodelling. Complications of this disease include an increased risk of developing bone neoplasms. Here, we describe the case of a 60-year-old Italian patient with Paget disease of bone, presenting with an osteoclast-rich tumour. Our analysis of this entity, based on the clinical, morphological and genetic data (whole exome sequencing), suggests that osteoclast-rich lesions in Paget disease of bone are genetically distinct from classical giant cell tumour of bone. We discuss the importance of...
Source: Skeletal Radiology - November 20, 2023 Category: Radiology Source Type: research
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
Genetic variation at HNRNPA2B1 was first implicated in neuromuscular disease in a family with myopathy and Paget's disease, with a frequent co-occurrence of cognitive impairment and motor neurone disease [1]. The clinic-pathological phenotype that was felt to be of a Multi-System Proteinopathy (MSP) [2,3], though variation at HNRNPA2B1 is unlikely to explain many instances of MSP or motor neurone disease [4 –6]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 15, 2023 Category: Neurology Authors: Liam S Carroll, Sarah Ennis, Nicola Foulds, Simon R Hammans Tags: Case report Source Type: research
Network meta-analysis of treatments for perineal extramammary paget ’s disease: Focusing on performance of recurrence prevention
ConclusionMMS has the best performance on reducing perineal EMPD recurrence, while LE exhibits the worst capability in such regard. Recurrence-preventing abilities of other treatments have no significant difference between each other. (Source: PLoS One)
Source: PLoS One - November 13, 2023 Category: Biomedical Science Authors: Xiaobin Yuan Source Type: research
Cancers, Vol. 15, Pages 5276: A Pictorial Exploration of Mammary Paget Disease: Insights and Perspectives
o Venturini
Maria Pizzamiglio
Enrico Cassano
Mammary Paget disease (MPD) is a rare condition primarily affecting adult women, characterized by unilateral skin changes in the nipple–areolar complex (NAC) and frequently associated with underlying breast carcinoma. Histologically, MPD is identified by large intraepidermal epithelial cells (Paget cells) with distinct characteristics. Immunohistochemical profiles aid in distinguishing MPD from other skin conditions. Clinical evaluation and imaging techniques, including magnetic resonance imaging (MRI), are recommended if MPD is suspected, although definiti...
Source: Cancers - November 3, 2023 Category: Cancer & Oncology Authors: Luciano Mariano Luca Nicosia Davide Pupo Antonia Maria Olivieri Sofia Scolari Filippo Pesapane Antuono Latronico Anna Carla Bozzini Nicola Fusco Marta Cruz Blanco Giovanni Mazzarol Giovanni Corso Viviana Enrica Galimberti Massimo Venturini Maria Pizzamigl Tags: Review Source Type: research
Anal and Perianal Preneoplastic Lesions
Anal cancer, mainly squamous cell carcinoma, is rare but increasing in prevalence, as is its precursor lesion, anal squamous dysplasia. They are both strongly associated with human papillomavirus infection. The 2-tiered Lower Anogenital Squamous Terminology classification, low-grade SIL and high-grade SIL, is preferred to the 3-tiered anal intraepithelial neoplasia classification because of better interobserver agreement and clearer management implications. Immunohistochemistry with p16 is helpful to corroborate the diagnosis of squamous dysplasia. Similarly, immunohistochemistry is helpful to differentiate primary Paget d...
Source: Gastroenterology Clinics of North America - October 16, 2023 Category: Gastroenterology Authors: Maurice B. Loughrey, Neil A. Shepherd Source Type: research
The effects of clinicopathological and imaging findings on recurrence and survival in mammary Paget's disease
CONCLUSION: The presence of a mass lesion on MRI was determined to be significant in recognizing invasive carcinoma in MPD. The rate of SLN metastasis was higher in patients with multicentric tumors than in patients with unifocal tumors. Axillary involvement was associated with impaired DFS.PMID:37829736 | PMC:PMC10565753 | DOI:10.14744/nci.2023.77010 (Source: Clinical Breast Cancer)
Source: Clinical Breast Cancer - October 13, 2023 Category: Cancer & Oncology Authors: Hakan Baysal Cem Ilgin Erol Begumhan Baysal Ibrahim Ali Ozemir Mehmet Sait Ozsoy Fatih Buyuker Gozde Kir Orhan Alimoglu Source Type: research
The effects of clinicopathological and imaging findings on recurrence and survival in mammary Paget's disease
CONCLUSION: The presence of a mass lesion on MRI was determined to be significant in recognizing invasive carcinoma in MPD. The rate of SLN metastasis was higher in patients with multicentric tumors than in patients with unifocal tumors. Axillary involvement was associated with impaired DFS.PMID:37829736 | PMC:PMC10565753 | DOI:10.14744/nci.2023.77010 (Source: Clinical Genitourinary Cancer)
Source: Clinical Genitourinary Cancer - October 13, 2023 Category: Cancer & Oncology Authors: Hakan Baysal Cem Ilgin Erol Begumhan Baysal Ibrahim Ali Ozemir Mehmet Sait Ozsoy Fatih Buyuker Gozde Kir Orhan Alimoglu Source Type: research
A Standardised Surgical Approach for Improved Outcomes In Paget-Schroetter Syndrome: Insights From A Comprehensive Meta-Analysis
Eur J Vasc Endovasc Surg. 2023 Oct 11:S1078-5884(23)00816-X. doi: 10.1016/j.ejvs.2023.10.004. Online ahead of print.NO ABSTRACTPMID:37832912 | DOI:10.1016/j.ejvs.2023.10.004 (Source: PubMed: Eur J Vasc Endovasc ...)
Source: PubMed: Eur J Vasc Endovasc ... - October 13, 2023 Category: Surgery Authors: Estefania G Narvaez Julie A Freischlag Source Type: research
The effects of clinicopathological and imaging findings on recurrence and survival in mammary Paget's disease
CONCLUSION: The presence of a mass lesion on MRI was determined to be significant in recognizing invasive carcinoma in MPD. The rate of SLN metastasis was higher in patients with multicentric tumors than in patients with unifocal tumors. Axillary involvement was associated with impaired DFS.PMID:37829736 | PMC:PMC10565753 | DOI:10.14744/nci.2023.77010 (Source: Clinical Breast Cancer)
Source: Clinical Breast Cancer - October 13, 2023 Category: Cancer & Oncology Authors: Hakan Baysal Cem Ilgin Erol Begumhan Baysal Ibrahim Ali Ozemir Mehmet Sait Ozsoy Fatih Buyuker Gozde Kir Orhan Alimoglu Source Type: research
The effects of clinicopathological and imaging findings on recurrence and survival in mammary Paget's disease
CONCLUSION: The presence of a mass lesion on MRI was determined to be significant in recognizing invasive carcinoma in MPD. The rate of SLN metastasis was higher in patients with multicentric tumors than in patients with unifocal tumors. Axillary involvement was associated with impaired DFS.PMID:37829736 | PMC:PMC10565753 | DOI:10.14744/nci.2023.77010 (Source: Clinical Genitourinary Cancer)
Source: Clinical Genitourinary Cancer - October 13, 2023 Category: Cancer & Oncology Authors: Hakan Baysal Cem Ilgin Erol Begumhan Baysal Ibrahim Ali Ozemir Mehmet Sait Ozsoy Fatih Buyuker Gozde Kir Orhan Alimoglu Source Type: research
A Standardised Surgical Approach for Improved Outcomes In Paget-Schroetter Syndrome: Insights From A Comprehensive Meta-Analysis
Eur J Vasc Endovasc Surg. 2023 Oct 11:S1078-5884(23)00816-X. doi: 10.1016/j.ejvs.2023.10.004. Online ahead of print.NO ABSTRACTPMID:37832912 | DOI:10.1016/j.ejvs.2023.10.004 (Source: PubMed: Eur J Vasc Endovasc ...)
Source: PubMed: Eur J Vasc Endovasc ... - October 13, 2023 Category: Surgery Authors: Estefania G Narvaez Julie A Freischlag Source Type: research
A Standardised Surgical Approach for Improved Outcomes In Paget-Schroetter Syndrome: Insights From A Comprehensive Meta-Analysis
(Source: European Journal of Vascular and Endovascular Surgery)
Source: European Journal of Vascular and Endovascular Surgery - October 11, 2023 Category: Surgery Authors: Estefania G. Narvaez, Julie A. Freischlag Tags: Invited Commentary Source Type: research
P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study
We describe the muscle biopsy features of 72 patients enrolled in the VCP International Multicentre Study. Muscle biopsies were retrospectively reviewed by experts in muscle pathology at each centre following the recommendation of the "Common Data Elements for Muscle Biopsy Reporting" publication. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: M. Schiava, I. Nishino, M. Inoue, Y. Nishimori, Y. Saito, T. Polvikoski, R. Charlton, Y. Parkhurst, M. Henderson, C. Marini-Bettolo, M. Guglieri, V. Straub, C. Weihl, T. Stojkovic, R. Villar-Quiles, N. Romero, T. Evangelista, E. Pegoraro, J. De Bleecker, Source Type: research
P326 Immune myopathy with perimysial pathology in a patient with an unusual clinical phenotype and Anti-Mi-2 antibody
We present a case of a 71-year-old woman with a six-month history of progressive muscle weakness. Her father had Paget's disease of the bone and dementia in his 70s. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: X. Pham, P. Siriratnam, E. Rodrigues, C. McLean Source Type: research
