The Latest Pathology Articles
The latest pathology articles from leading medical journals in a single view.
- Identification and characterization of effusion tumor cells (ETCs) from remnant pleural effusion specimens.Cancer is a leading cause of death worldwide, and patients may have advanced disease when diagnosed. Targeted therapies guided by molecular subtyping of cancer can benefit patients significantly. Pleural effusions are frequently observed in patients with metastatic cancer and are routinely removed for therapeutic purposes; however, effusion specimens have not been recognized as typical substrates […]
- Clinicopathological study of hepatic mesenchymal hamartoma and undifferentiated embryonal sarcoma of the liver: a single center study from Iran.Undifferentiated embryonal sarcoma of liver (UESL) and hepatic mesenchymal hamartoma (HMH) are two rare entities which mainly affect the pediatric population. The aim of this investigation was to provide a comprehensive overview of the clinicopathologic characteristics of the patients diagnosed with these two conditions in a tertiary referral center in Iran.In this retrospective study patients […]
- Secretory carcinoma of the breast with multiple distant metastases in the brain and unfavorable prognosis: a case report and literature review.Secretory carcinoma of the breast is one of the rarest entities, accounting for less than 0.15 % of all infiltrating breast carcinomas. It has characteristic histopathological and molecular features and, in general, a more favorable prognosis. In this case report, we describe a local, advanced secretory carcinoma of the breast with aggressive course and an unfavorable […]
- Increased diagnostic sensitivity of palpation-guided thyroid nodule fine-needle aspiration cytology by BRAF V600E-mutation analysis.Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer and its incidence is increasing. Preoperative diagnosis is warranted in order to avoid ‘two-stage’ procedures that are associated with additional costs and higher radioactive iodine remnant uptake. In the setting of thyroid cancer, somatic BRAF V600E-mutations are highly specific for PTC and can […]
- Validation of BRCA testing on cytologic samples of high-grade serous carcinoma.Testing for BRCA1/2 gene alterations in patients with high-grade serous carcinoma (HGSC) is a critical determinant of treatment eligibility for poly(adenosine diphosphate-ribose) polymerase inhibitors in addition to providing vital information for genetic counselling. Many patients present with effusions necessitating therapeutic drainage, and this makes cytologic specimens (CySs) the initial diagnostic material for HGSC, often before […]
- Paleopathology of the Ychsma: Evidence of respiratory disease during the Late Intermediate Period (AD 1000-1476) at the Central Coastal site of Pachacamac, Peru.To investigate evidence for maxillary sinusitis and pulmonary inflammation in archaeological skeletons dating to the Late Intermediate Period (AD 1000-1476) at the site of Pachacamac, Peru.Thirty-nine individuals (male, female, and unknown sex; 16+ years age-at-death) were analyzed for inflammatory periosteal reaction (IPR) on the visceral (inner) surfaces of the ribs, and 16 individuals were analyzed […]
- Mortality, migration and epidemiological change in English cities, 1600-1870.This study tests the argument that industrialisation was accompanied by a dramatic worsening of urban health in England.Family reconstitutions derived from baptism, marriage and burial records for the period before 1837, and from civil registration of deaths and census populations between 1837 and 1900.Age-specific mortality rates are used as indicators of population health.The available evidence […]
- To whom the specimen goes: a look at how touch preparations and core needle biopsies are handled in different practices and the effect on fellowship education.Core needle biopsies (CNBs) have proven to be an excellent source of tissue for diagnosis and ancillary testing in the era of personalized medicine, commonly yielding sufficient material for testing via a relatively minimally invasive technique. Thus, there has been an increase in touch preparations (TPs) evaluated with rapid onsite evaluation (ROSE) of these small […]
- Lesions in sheep elbows: Insights from a large-scale study.Enthesophytes on sheep elbow joints are commonly reported in archaeological material. Although these lesions are often described as ‘penning elbow’, little is known of their aetiology. In this study, a new method for recording these lesions is presented, and the effect of age, sex and body size is explored to understand their potential for informing […]
- Trends in cytopathology fellowship positions and vacancies over the past decade.Cytopathology is one of the most sought-after fellowships within pathology, with a lower fellowship vacancy rate compared with most other subspecialties. The Accreditation Council for Graduate Medical Education (ACGME) actively tracks annual program data for cytopathology fellowship programs, and evaluating this longitudinal data looking at trends in programs and positions over the past 10 years […]
- STING pathway expression in low-grade serous carcinoma of the ovary: an unexpected therapeutic opportunity?Ovarian carcinoma histotypes are distinct diseases with variable clinical outcomes and response to treatment. There is a need for new subtype-specific treatment modalities, especially for women with widespread and chemo-resistant disease. Stimulator of interferon genes (STING) is a part of the cGAS-STING pathway that mediates innate immune defence against infectious DNA-containing pathogens and also detects […]
- Subclassification of the Bethesda Category III (AUS/FLUS): A Study of thyroid FNA cytology based on ThinPrep slides from the National Cancer Center in China.The atypia of an undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) category in the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) is a heterogeneous category, which includes various cell patterns. The subclassification of AUS/FLUS was suggested in the 2017 TBSRTC. However, the risk of malignancy (ROM) associated with different subgroups remains unresolved. Herein, AUS/FLUS aspirates […]
- Urothelial carcinoma of the graft kidney with molecular analyses: a rare case report.Malignancy after transplantation is a leading cause of death among kidney transplant recipients. However, donor-derived malignancies are rare. We report a case of a high grade papillary urothelial carcinoma arising in a transplanted kidney.A 62-year-old female who received a kidney transplantation more than 30 years ago presented with urinary tract infection, acute renal failure, and hydronephrosis […]
- Usefulness of SS18-SSX antibody as a diagnostic marker for pulmonary metastatic synovial sarcoma.The novel SS18-SSX fusion-specific antibody is reported to have high sensitivity and specificity for the diagnosis of primary synovial sarcoma (SS), which often metastasizes to the lung. Thus far, no study has validated the diagnostic efficacy of SS18-SSX antibody for pulmonary metastatic SS. Therefore, we aimed to investigate the usefulness of the SS18-SSX antibody in […]
- A unique case of skeletal dysplasia in an adult male in Late Iron Age Switzerland.We report a probable case of multiple skeletal dysplasia observed in a Late Iron Age young adult male.The individual studied belongs to a Late Iron Age necropolis from Switzerland. The skeletal elements are well preserved METHODS: Macroscopic and radiographic assessment.The individual shows evidence of both craniofacial and mandibular deformation. Developmental defects are also visible with […]
- Fancy shoes and painful feet: Hallux valgus and fracture risk in medieval Cambridge, England.Hallux valgus, the lateral deviation of the great toe, can result in poor balance, impaired mobility and is an independent risk factor for falls. This research aims to compare the prevalence of hallux valgus in subpopulations of medieval Cambridge, England, and to examine the relationship between hallux valgus and fractures to examine the impact of […]
- SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report.Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex-deficiency have been described.A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as […]
- Impact of education on institutional and faculty rates of atypical squamous cells.Papanicolaou test quality metrics include the ASC rate, ASC:SIL ratio, and ASC HPV+ rate. What a laboratory should do when metrics show a worrisome trend is not well defined. In 2015, our laboratory noted a worrisome trend in our quality metrics and decided to implement a systemic education program in 2016; we monitored the effectiveness […]
- Cytopathology fellowship recruitment: Has the time come to consider a unified approach?Cytopathology (CYP) fellowship training is a critical component of maintaining a skilled group of cytopathologists. For years, the recruitment process for CYP fellowship programs has remained unchanged, with individual programs outlining their own requirements and timeline, and applicants bearing the cost of travel and dealing with the variable processes outlined by individual programs. However, there […]
- Enhanced expression of miR-889 forecasts an unfavorable prognosis and facilitates cell progression in hepatocellular carcinoma.As a new type of molecular marker, microRNAs (miRNAs) can be used for early diagnosis and prognosis prediction of malignant tumors, and has broad clinical application prospects. This paper mainly studies the important role of miR-889 in the occurrence and development of hepatocellular carcinoma and the prognostic significance of miR-889 in hepatocellular carcinoma.Quantitative real-time PCR […]
- Detection of BCOR gene rearrangement in Ewing-like sarcoma: an important diagnostic tool.BCOR-CCNB3 sarcoma (BCS) is a group of undifferentiated small round cell sarcomas harboring the BCOR gene rearrangement which shares morphology with the Ewing sarcoma family as well as other malignant round blue cell tumors, thus making them difficult to diagnose. The aim of this study was to explore the role of molecular techniques in the […]
- Esophageal granular cell tumor and eosinophils: a multicenter experience.Esophageal granular cell tumor (eGCT) is rare, and the recent literature suggests a link between eosinophilic esophagitis (EoE) and eGCT. The aim of our study was to determine if EoE or other disorders associated with eosinophilia are consistently associated with eGCT.We retrospectively searched pathology databases of three academic institutions from 1999 to 2018 for eGCTs. […]
- Rescreening of high-risk HPV positive Papanicolaou tests initially screened as negative is a low yield procedure in the era of HPV genotyping.Many laboratories rescreen Papanicolaou test slides initially interpreted as negative, but positive for human papillomavirus (HPV) high-risk types, as a quality control measure. We have evaluated the utility of this practice in the era of HPV genotyping as a laboratory improvement project.Between August 2016 and October 2019, we identified 3618 rescreened Papanicolaou tests with follow-up […]
- Comparison of quantitative internal and external measures of performance for trainees in cytopathology fellowships.Cytopathology fellowships need measures to assess performance of fellows. We sought to compare several internal quantitative assessment metrics in our fellowship with external metrics, such as performance on the American Society of Cytopathology (ASC) Progressive Evaluation of Competency (PEC) examination and United States Medical Licensing Examination (USMLE).Quantitative parameters generated from our laboratory information system (LIS) […]
- Image-guided lymph node fine-needle aspiration: the Johns Hopkins Hospital experience.Although the diagnostic utility of lymph node fine-needle aspiration (FNA) is well established in the evaluation of metastatic malignancy, its value in the diagnosis of lymphoma is more controversial; yet, there is a growing trend among practitioners towards less-invasive procedures such as FNA and core needle biopsy (CNB). The guidelines recently published by the American […]
- Reliable computational quantification of liver fibrosis is compromised by inherent staining variation.Biopsy remains the gold-standard measure for staging liver disease, both to inform prognosis and to assess the response to a given treatment. Semiquantitative scores such as the Ishak fibrosis score are used for evaluation. These scores are utilised in clinical trials, with the US Food and Drug Administration mandating particular scores as inclusion criteria for […]
- Tumor-associated lymphocytes and macrophages are related to stromal elastosis and vascular invasion in breast cancer.The tumor microenvironment plays a critical role in breast cancer progression. Here, we investigated tumor-infiltrating lymphocytes (TILs) and associations with macrophage numbers, tumor stromal elastosis, vascular invasion, and tumor detection mode. We performed a population-based retrospective study using data from The Norwegian Breast Cancer Screening Program in Vestfold County (2004-2009), including 200 screen-detected and 82 […]
- How limited molecular testing can also offer diagnostic and prognostic evaluation of thyroid nodules processed with liquid-based cytology: Role of TERT promoter and BRAF V600E mutation analysis.Mutational analysis contributes to the diagnosis and prognosis of thyroid nodules analyzed with fine-needle aspiration cytology (FNAC). Although several advanced molecular tests based on multiple molecular markers are available for clinical use and have increased their impact on clinical management of patients, they are not widely available. Among them is BRAF V600E, one of the […]
- Is Milan for kids?: The Milan System for Reporting Salivary Gland Cytology in pediatric patients at an academic children’s hospital with cytologic-histologic correlation.The Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) provides a useful framework for the diagnosis of salivary gland fine-needle aspiration (FNA) biopsies. In this study, the MSRSGC was applied to salivary gland FNAs in pediatric patients to assess its usefulness and look at pitfalls.The laboratory information system was queried over a 15-year period for […]
- Keratin 17 testing in pancreatic cancer needle aspiration biopsies predicts survival.Although pancreatic ductal adenocarcinoma (PDAC) has one of the lowest 5-year survival rates of all cancers, differences in survival exist between patients with clinically identical characteristics. The authors previously demonstrated that keratin 17 (K17) expression in PDAC, measured by RNA sequencing or immunohistochemistry (IHC), is an independent negative prognostic biomarker. Only 20% of cases are […]
- Pathologic T1 and T2 encapsulated invasive carcinomas arising from mucinous cystic neoplasms of the pancreas have favorable prognosis and might be treated conservatively.Carcinoma arising from a mucinous cystic neoplasm (MCN) of the pancreas is termed MCN with associated invasive carcinoma (MCN-AIC) in the fifth WHO classification of digestive tumors (2019). The prognosis of this malignancy varies depending on the relationship of the invasive carcinoma to the cyst capsule, but limited data are available. This study identified 165 […]
- Pathologic T1 and T2 encapsulated invasive carcinomas arising from mucinous cystic neoplasms of the pancreas have favorable prognosis and might be treated conservatively.Carcinoma arising from a mucinous cystic neoplasm (MCN) of the pancreas is termed MCN with associated invasive carcinoma (MCN-AIC) in the fifth WHO classification of digestive tumors (2019). The prognosis of this malignancy varies depending on the relationship of the invasive carcinoma to the cyst capsule, but limited data are available. This study identified 165 […]
- Cytopathology of solitary fibrous tumor: a series of 34 cases.Solitary fibrous tumor (SFT), a fibroblastic neoplasm characterized by a specific genetic alteration (NAB2-STAT6 fusion) and relatively specific immunohistochemical profile (STAT6/CD34 positivity), is seldom the subject of cytopathology data. We report our experience with scrape smears and fine-needle aspiration (FNA) biopsies of SFT in a large patient cohort.A search was made of our cytopathology and […]
- Approaches to osteoporosis in paleopathology: How did methodology shape bone loss research?This paper will review how different methods employed to study bone loss in the past were used to explore different questions and aspects of bone loss, how methodology has changed over time, and how these different approaches have informed our understanding of bone loss in the past.A review and discussion is conducted on research protocols […]
- Identifying draught cattle in the past: Lessons from large-scale analysis of archaeological datasets.Improve understanding of the links between biological variables (sex, body size and anatomical position) and adaptive remodelling of autopodia, and the identification of traction use in the archaeological record.A modified version of the recording system for identifying draught cattle in the archaeological record (Bartosiewicz et al., 1997) was applied to a sample of 1509 bones […]
- The important role of routine cytopathology in pediatric precision oncology.The development of high-throughput drug screening (HTS) using primary cultures provides a promising, clinically translatable approach to tailoring treatment strategies for patients with cancer. However, this has been challenging for solid tumors because of often limited amounts of tissue available. In most cases, in vitro expansion is required before HTS, which may lead to overgrowth […]
- Critical values in cytology.The timely reporting of critical values, or values that may be life-threatening if immediate action is not taken, is essential to patient care and safety. Although some guidelines exist for critical diagnoses in cytology, not all laboratories have a specific list of diagnoses that should be considered critical, and the very existence of cytology “critical […]
- Long noncoding RNA TUG1 regulates the progression of colorectal cancer through miR-542-3p/TRIB2 axis and Wnt/β-catenin pathway.Colorectal cancer (CRC) is one of the third normal malignancy worldwide. Taurine-upregulated gene 1 (TUG1), a member of long noncoding RNAs (lncRNAs), has been reported to be involved in various cancers. However, the mechanism underlying TUG1 in the progression of CRC remains unclear.The expression of TUG1, microRNA-542-3p (miR-542-3p), and tribbles homolog 2 (TRIB2) in CRC […]
- The International Academy of Cytology Yokohama System for Reporting Breast Cytopathology showed improved diagnostic accuracy.The aim of the International Academy of Cytology Yokohama System for Reporting Breast Fine Needle Aspiration Biopsy Cytopathology is to improve cytology practice. This study assessed cytologic diagnoses made with the system and its efficacy when it was applied by pathologists with different levels of experience.In all, 1080 cases of breast fine-needle aspiration biopsy (FNAB) […]
- Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes.This paper discusses the possible etiologies for the proportionate short stature of a female individual and provides data to allow the diagnosis of future cases of Turner Syndrome (TS) in paleopathology.Skeleton of a 26-years-old maid, from the Coimbra Identified Skeletal Collection, who died of measles in 1920.Macroscopic examination, imaging techniques, and metric analysis.Her estimated height […]
- LncRNA GAS5 modulates the progression of non-small cell lung cancer through repressing miR-221-3p and up-regulating IRF2.Long non-coding RNA growth arrest specific 5 (GAS5) is a regulator in non-small cell lung cancer (NSCLC) progression. Nonetheless, the mechanism by which GAS5 exerts its biological function in NSCLC cells remains unclear.GAS5, miR-221-3p relative expression levels in NSCLC tissues and cells were examined by qPCR. After gain-of-function and loss-of-function models were established, the viability […]
- Application of direct stochastic optical reconstruction microscopy (dSTORM) to the histological analysis of human glomerular disease.Electron microscopy (EM) following immunofluorescence (IF) imaging is a vital tool for the diagnosis of human glomerular diseases, but the implementation of EM is limited to specialised institutions and it is not available in many countries. Recent progress in fluorescence microscopy now enables conventional widefield fluorescence microscopes to be adapted at modest cost to provide […]
- Imprint cytology: Invaluable technique to evaluate fresh specimens received in the pathology department for Lymphoma workup.At the time of intraoperative consultation, cytologic preparations including smears and imprints can be used in combination with frozen sections to increase diagnostic yield; however, these simple and rapid techniques are not adopted by all pathologists and their use varies considerably between institutions. In patients under investigation for suspected lymphoma, optimal triaging of tissue received […]
- Transcription start site-level expression of thyroid transcription factor 1 isoforms in lung adenocarcinoma and its clinicopathological significance.There are multiple transcription start sites (TSSs) in agreement with multiple transcript variants encoding different isoforms of NKX2-1/TTF-1 (thyroid transcription factor 1); however, the clinicopathological significance of each transcript isoform of NKX2-1/TTF-1 in lung adenocarcinoma (LAD) is unknown. Herein, TSS-level expression of NKX2-1/TTF-1 isoforms was evaluated in 71 LADs using bioinformatic analysis of cap analysis […]
- A novel tumor suppressor ASMTL-AS1 regulates the miR-1228-3p/SOX17/β-catenin axis in triple-negative breast cancer.Triple-negative breast cancer (TNBC) is a special type of breast cancer that lacks effective therapeutic targets. There is a significant need to clarify its pathogenesis, so as to bring new targeted approaches for TNBC management. Here, we identified a long-non coding RNA (lncRNA) ASMTL-AS1 that linked to TNBC development and progression.Quantitative real-time polymerase chain reaction […]
- Differential diagnosis of metabolic disease in a commingled sample from 19th century Hisban, Jordan.This research attempts a differential diagnosis of skeletal lesions in a commingled sample from Hisban, Jordan, focusing on non-adults in the assemblage.2,883 well-preserved skeletal elements and 9 relatively complete skulls representing an MNI of 32 non-adults (<18 years old).All skeletal elements were observed macroscopically and pathophysiological processes underlying any lesions or other anomalies were assessed, […]
- hsa_circ_001946 elevates HOXA10 expression and promotes the development of endometrial receptivity via sponging miR-135b.Impaired endometrial receptivity is a major reason for embryo implantation failure. There’s a paucity of information regarding the role of circRNAs on endometrial receptivity. Here, we investigated the function of hsa_circ_001946 on endometrial receptivity and its mechanisms.A total of 50 women composing 25 with recurrent implantation failure and 25 who conceived after their implantation were […]
- Needle tract seeding in renal tumor biopsies: experience from a single institution.Percutaneous needle biopsy of renal masses has been increasingly utilized to aid the diagnosis and guide management. It is generally considered as a safe procedure. However, tumor seeding along the needle tract, one of the complications, theoretically poses potential risk of tumor spread by seeded malignant cells. Prior studies on the frequency of needle tract […]
- Colonic epithelial cathelicidin (LL-37) expression intensity is associated with progression of colorectal cancer and presence of CD8+ T cell infiltrate.Colorectal cancer (CRC) remains a leading cause of cancer mortality. Here, we define the colonic epithelial expression of cathelicidin (LL-37) in CRC. Cathelicidin exerts pleotropic effects including anti-microbial and immunoregulatory functions. Genetic knockout of cathelicidin led to increased size and number of colorectal tumours in the azoxymethane-induced murine model of CRC. We aimed to translate […]
- Do computed tomography findings agree with traditional osteological examination? The case of porous cranial lesions.The current study evaluates the feasibility of using clinical cranial computed tomography (CT) scans for assessing the presence and morphology of porous cranial lesions (cribra orbitalia, porotic hyperostosis).Observers (n = 4) conducted three independent evaluations of porous cranial lesions based on photographs, 2-D CT, and 3-D CT scans of archaeological crania. Evaluations of the crania […]
- Thundering hoofbeats and dazzling zebras: A model integrating current rare disease perspectives in paleopathology.The article reviews the study of rare diseases and their nomenclature, emerging government policies and initiatives, and the concerns voiced by the modern rare disease communities. An interpretive model is then presented for the bioarchaeological interpretations of individuals with paleopathological evidence of rare diseases.In demonstration of the application of the proposed framework, we evaluate the […]
- A deep learning system to diagnose the malignant potential of urothelial carcinoma cells in cytology specimens.Although deep learning algorithms for clinical cytology have recently been developed, their application to practical assistance systems has not been achieved. In addition, whether deep learning systems (DLSs) can perform diagnoses that cannot be performed by pathologists has not been fully evaluated.The authors initially obtained low-power field cytology images from archived Papanicolaou-stained urinary cytology glass […]
- Dysbalance of ACE2 levels – a possible cause for severe COVID-19 outcome in COPD.Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) poses a serious threat to healthcare systems worldwide. Binding of the virus to angiotensin-converting enzyme 2 (ACE2) is an important step in the infection mechanism. However, it is unknown if ACE2 expression in patients with chronic lung diseases (CLDs), such as chronic obstructive pulmonary disease (COPD), idiopathic pulmonary […]
- Optimized workflow for digitalized FISH analysis in pathology.Effective workflow management in a diagnostic pathology laboratory is critical to achieve rapid turnover while maintaining high quality. Fluorescence in situ hybridization analysis (FISH) is the preferred technique for detecting single chromosomal aberrations in diagnostic surgical pathology.FISH analysis applying a rapid hybridization protocol and using an automated whole-slide fluorescence scanning device (3DHISTECH, Sysmex, Switzerland) were […]
- Klippel-Feil syndrome cases from Slovakia.This study analyzes two probable cases of Klippel-Feil syndrome (KFS) from the region of modern Slovakia and provides an overview of possible cases reported in ‘grey’ literature.Two adult skeletons with probable KFS from Vráble-Veľké Lehemby and Radoľa-Koscelisko.Macroscopic analysis was performed using standard osteological methods.The two analyzed skeletons represent probable cases of KFS; one from the […]
- Validation of cobas 4800 HPV assay in SurePath Papanicolaou specimens for cervical cancer screening.The cobas (Roche Diagnostics, Indianapolis, IN) HPV assay was approved by the US Food and Drug Administration for human papillomavirus (HPV) testing in SurePath (Becton Dickinson, Franklin Lakes, NJ) Papanicolaou specimens for cervical cancer prevention. To validate the cobas HPV assay in SurePath specimens in our institution, we compared its accuracy and clinical efficacy to […]
- 18F-fluciclovine-PET/CT imaging versus conventional imaging alone to guide postprostatectomy salvage radiotherapy for prostate cancer (EMPIRE-1): a single centre, open-label, phase 2/3 randomised controlled trial.Molecular imaging is increasingly used to guide treatment decisions and planning in prostate cancer. We aimed to evaluate the role of 18F-fluciclovine-PET/CT in improving cancer control compared with conventional imaging (bone scan and either CT or MRI) alone for salvage postprostatectomy radiotherapy.In EMPIRE-1, a single-centre, open-label, phase 2/3 randomised controlled trial, patients with prostate cancer […]
- Ancient DNA analysis of rare genetic bone disorders.Review of the current advancements in the field of paleogenetics that provide new opportunities in studying the evolution of rare genetic bone diseases.Based on cases from the literature, the genetics of rare bone diseases will be introduced and the main methodological issues will be addressed, focusing on the opportunities presented by the application of aDNA […]
- MYC amplifications are common events in childhood osteosarcoma.Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. No fundamental biological differences between paediatric and adult osteosarcoma are known. Here, we apply multi-region whole-genome sequencing to an index case of a 4-year-old child whose aggressive tumour harboured high-level, focal amplifications of MYC and CCNE1 connected by translocations. We reanalysed […]
- Gout and ‘Podagra’ in medieval Cambridge, England.To estimate the prevalence rate of gout and to explore the social factors that contributed to its development in the various sub-populations in medieval Cambridge.177 adult individuals from four medieval cemeteries located in and around Cambridge, UK.Lesions were assessed macroscopically and radiographically. Elements with lytic lesions were described and imaged using micro-computed tomography (μCT) to […]