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Journal of Clinical Pathology Sep 2023() rearrangements have been identified in aneurysmal bone cyst, nodular fasciitis, myositis ossificans, fibro-osseous pseudotumour of digits and cellular fibroma of...
() rearrangements have been identified in aneurysmal bone cyst, nodular fasciitis, myositis ossificans, fibro-osseous pseudotumour of digits and cellular fibroma of tendon sheath. These entities show clinical as well as histological overlap, suggesting they are all clonal neoplastic belonging to the same biological spectrum and referred to as '-associated neoplasms'. They all show a characteristic gene fusion formed by juxtaposition of the coding sequences to the promoter regions of several partner genes, leading to transcriptional upregulation.
Topics: Humans; Fasciitis; Gene Rearrangement; Bone Cysts, Aneurysmal; Gene Fusion; Fibroma; Ubiquitin Thiolesterase
PubMed: 37328256
DOI: 10.1136/jcp-2023-208896 -
Pathologie (Heidelberg, Germany) Nov 2023Osseous lesions are rare; however, their incidence is increased in childhood and adolescence. The spectrum of osseous processes in this age group is limited, with benign... (Review)
Review
Osseous lesions are rare; however, their incidence is increased in childhood and adolescence. The spectrum of osseous processes in this age group is limited, with benign lesions being much more prevalent than malignant tumors. For the differential diagnosis, it is essential to have in-depth knowledge of the more frequent bone diseases in children and adolescents. The current review presents these diseases based on the morphologic approach of the WHO classification, including giant cell-rich and cystic lesions, chondrogenic and bone-forming lesions [7]. Small round cell sarcomas which are now summarized in a separate chapter of the WHO classification have been described previously [12, 20].
Topics: Humans; Adolescent; Child; Bone Neoplasms; Giant Cells
PubMed: 37828376
DOI: 10.1007/s00292-023-01235-z -
Hormones (Athens, Greece) Mar 2024Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH)... (Review)
Review
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
Topics: Infant, Newborn; Humans; Hyperparathyroidism, Primary; Calcium; Hypercalcemia; Adenoma; Fibroma; Hyperparathyroidism; Jaw Neoplasms
PubMed: 38038882
DOI: 10.1007/s42000-023-00508-9 -
The Journal of Thoracic and... Mar 2024
Topics: Humans; Cardiac Papillary Fibroelastoma; Papillary Muscles; Echocardiography, Transesophageal; Heart Neoplasms; Fibroma
PubMed: 35989121
DOI: 10.1016/j.jtcvs.2022.07.009 -
Primary Care Diabetes Dec 2023The current study ushers in a comprehensive review in clinical research to demonstrate the prevalence of musculoskeletal (MSK) complications in diabetes mellitus and the... (Review)
Review
The current study ushers in a comprehensive review in clinical research to demonstrate the prevalence of musculoskeletal (MSK) complications in diabetes mellitus and the most relevant clinical aspects. In particular, revealing the early symptoms of the disorders, the pathology lurking behind the complications and their optimal management. In diabetes mellitus, MSK complications are common and are largely due to similar pathogenetic factors responsible for the internal organ complications associated with diabetes leading to chronic low-intensity inflammatory processes. MSK disorders develop by vasculopathy, neuropathy, arthropathy or combinations of the above, which are not specific to diabetes. However, their prevalence is significantly increased in diabetes and contributes to the disability impairing patients' quality of life. Locomotor disease affects approximately 34.4-83.5 % of patients suffering from type-2 diabetes mellitus. Several musculoskeletal abnormalities (cheiroarthropathy, Dupuytren's contracture, trigger finger, ect.) can be diagnosed upon physical examination, although certain symptoms (frozen shoulder, neurogenic arthropathy, septic arthritis, etc.) require differential diagnostic considerations. Early identification regarding characteristic symptoms in the treatment reducing inflammation and pain, followed with increasingly strenuous exercise therapy, aligned with optimal management of carbohydrate metabolism, proves essential in alleviating MSK complications.
Topics: Humans; Quality of Life; Musculoskeletal Diseases; Joint Diseases; Dupuytren Contracture; Diabetes Mellitus, Type 2
PubMed: 37643934
DOI: 10.1016/j.pcd.2023.08.003 -
European Archives of... Jun 2024Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics. (Review)
Review
PURPOSE
Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics.
METHODS
This case report focuses on a 69-year-old male who presented to a tertiary healthcare center in Karnataka, India with a swelling in the oral cavity.
RESULTS
Despite initial suspicions of malignancy based on clinical examination and findings on computed tomography imaging, subsequent histopathology and immunohistochemistry revealed an unexpected finding.
CONCLUSION
The case highlights the importance of clinical suspicion and histopathological evaluation as well as the need for greater awareness to facilitate early diagnosis and appropriate management of desmoid fibromatosis. We also present a literature review of varied presentations of desmoid tumors afflicting various subsites of the head and neck.
Topics: Humans; Male; Fibromatosis, Aggressive; Aged; Diagnosis, Differential; Tomography, X-Ray Computed; Mouth Neoplasms; Immunohistochemistry
PubMed: 38530459
DOI: 10.1007/s00405-024-08558-4 -
Skeletal Radiology May 2024
Topics: Humans; Fibromatosis, Aggressive; Choristoma; Hamartoma; Skin Diseases
PubMed: 37943306
DOI: 10.1007/s00256-023-04496-0 -
Expert Review of Anticancer Therapy Jun 2024APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated... (Review)
Review
INTRODUCTION
APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers.
AREAS COVERED
The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices.
EXPERT OPINION
FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.
Topics: Humans; Adenomatous Polyposis Coli; Quality of Life; Colectomy; Postoperative Complications; Patient Care Team; Precision Medicine; Phenotype; Genotype; Fibromatosis, Aggressive
PubMed: 38785081
DOI: 10.1080/14737140.2024.2344649 -
BMC Medical Genomics Sep 2023The correlation between smoking and alcohol consumption and the development of Dupuytren's disease (DD) has been acknowledged. However, the definitive causal...
BACKGROUND
The correlation between smoking and alcohol consumption and the development of Dupuytren's disease (DD) has been acknowledged. However, the definitive causal relationship between these two factors and DD remains elusive. In order to establish a causal connection, we employed the two-sample Mendelian randomization method to evaluate the relationship between smoking and alcohol consumption and DD.
METHODS
Based on publicly available genome-wide association studies (GWAS), two-sample univariate MR analyses were performed to assess the causal effects of drinks per week, cigarettes per day, smoking initiation, age of initiation, and smoking cessation on DD. We used inverse variance weighted (IVW) to generate the primary results for the MR analysis. Furthermore, we performed sensitivity MR analyses based on various methods to assess the robustness of estimations. Bidirectional MR analyses were used to study the interaction between smoking and alcohol consumption. Multivariate MR analyses were used to obtain independent causal effects of smoking or drinking on DD.
RESULTS
Our two-sample MR, which was predominately based on IVW, revealed a causal relationship between drinks per week and DD (OR = 2.948, 95%CI: 1.746-4.975, P = 5.16E-05). In addition, there is no causal association between cigarettes per day, smoking initiation, age of initiation, smoking cessation and DD. Similar conclusions were reached by other MR methods. The results of the bidirectional MR analyses showed that the causal relationships between age of initiation and drinks per week were robust and significant. Multivariate MR results indicated that the causal effect of alcohol consumption on DD was independent of smoking.
CONCLUSION
Our Mendelian Randomization study indicated that there is a causality between drinking alcohol and DD, but no such causality was found between smoking and DD. This is the first study to prove that drinking alcohol could cause DD. This could help people who are trying to prevent DD from happening in the first place.
Topics: Humans; Smoking; Dupuytren Contracture; Genome-Wide Association Study; Mendelian Randomization Analysis; Ethanol; Alcohol Drinking
PubMed: 37679690
DOI: 10.1186/s12920-023-01650-4 -
Modern Pathology : An Official Journal... Feb 2024Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its...
Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.
Topics: Humans; Cementoma; Fibroma, Ossifying; Odontogenic Tumors; Genomics; Protein Tyrosine Phosphatases, Non-Receptor; Adaptor Proteins, Signal Transducing; Ubiquitin-Protein Ligases
PubMed: 37995913
DOI: 10.1016/j.modpat.2023.100388