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Journal of Gastroenterology Sep 2023Individual colorectal polyp risk factors are well characterized; however, insights into their pathway-specific interactions are scarce. We aimed to identify the impact...
BACKGROUND
Individual colorectal polyp risk factors are well characterized; however, insights into their pathway-specific interactions are scarce. We aimed to identify the impact of individual risk factors and their joint effects on adenomatous (AP) and serrated polyp (SP) risk.
METHODS
We collected information on 363 lifestyle and metabolic parameters from 1597 colonoscopy participants, resulting in over 521,000 data points. We used multivariate statistics and machine-learning approaches to assess associations of single variables and their interactions with AP and SP risk.
RESULTS
Individual factors and their interactions showed common and polyp subtype-specific effects. Abdominal obesity, high body mass index (BMI), metabolic syndrome, and red meat consumption globally increased polyp risk. Age, gender, and western diet associated with AP risk, while smoking was associated with SP risk. CRC family history was associated with advanced adenomas and diabetes with sessile serrated lesions. Regarding lifestyle factor interactions, no lifestyle or dietary adjustments mitigated the adverse smoking effect on SP risk, whereas its negative effect was exacerbated by alcohol in the conventional pathway. The adverse effect of red meat on SP risk was not ameliorated by any factor, but was further exacerbated by western diet along the conventional pathway. No modification of any factor reduced the negative impact of metabolic syndrome on AP risk, whereas increased fatless fish or meat substitutes' intake mitigated its effect on SP risk.
CONCLUSIONS
Individual risk factors and their interactions for polyp formation along the adenomatous and serrated pathways are strongly heterogeneous. Our findings may facilitate tailored lifestyle recommendations and contribute to a better understanding of how risk factor combinations impact colorectal carcinogenesis.
Topics: Humans; Colonic Polyps; Metabolic Syndrome; Colorectal Neoplasms; Adenoma; Risk Factors; Colonoscopy; Adenomatous Polyps
PubMed: 37300599
DOI: 10.1007/s00535-023-02004-8 -
Experimental & Molecular Medicine May 2023Genomic and transcriptomic profiling has enhanced the diagnostic and treatment options for many cancers. However, the molecular characteristics of parathyroid cancer...
Genomic and transcriptomic profiling has enhanced the diagnostic and treatment options for many cancers. However, the molecular characteristics of parathyroid cancer remain largely unexplored, thereby limiting the development of new therapeutic interventions. Herein, we conducted genomic and transcriptomic sequencing of 50 parathyroid tissues (12 carcinomas, 28 adenomas, and 10 normal tissues) to investigate the intrinsic and comparative molecular features of parathyroid carcinoma. We confirmed multiple two-hit mutation patterns in cell division cycle 73 (CDC73) that converged to biallelic inactivation, calling into question the presence of a second hit in other genes. In addition, allele-specific repression of CDC73 in copies with germline-truncating variants suggested selective pressure prior to tumorigenesis. Transcriptomic analysis identified upregulation of the expression of E2F targets, KRAS and TNF-alpha signaling, and epithelial-mesenchymal transition pathways in carcinomas compared to adenomas and normal tissues. A molecular classification model based on carcinoma-specific genes clearly separated carcinomas from adenomas and normal tissues, the clinical utility of which was demonstrated in two patients with uncertain malignant potential. A deeper analysis of gene expression and functional prediction suggested that Wilms tumor 1 (WT1) is a potential biomarker for CDC73-mutant parathyroid carcinoma, which was further validated through immunohistochemistry. Overall, our study revealed the genomic and transcriptomic profiles of parathyroid carcinoma and may help direct future precision diagnostic and therapeutic improvements.
Topics: Humans; Parathyroid Neoplasms; Transcriptome; Genomics; Carcinoma; Adenoma
PubMed: 37121965
DOI: 10.1038/s12276-023-00968-4 -
Best Practice & Research. Clinical... Jan 2021Accurate classification of postsurgical remission, and early recognition of recurrence are crucial to timely treat and prevent excess mortality in Cushing's Disease, yet... (Review)
Review
Accurate classification of postsurgical remission, and early recognition of recurrence are crucial to timely treat and prevent excess mortality in Cushing's Disease, yet the criteria used to define remission are variable and there is no consensus to define recurrence. Remission is defined as postsurgical hypocortisolemia, but delayed remission may occur. Recurrence is the return of clinical manifestations with biochemical evidence of hypercortisolism. The proper combination of tests and their timing are controversial. Reliable predicting tools may lead to earlier diagnosis upon recurrence. Many factors have been studied independently for prediction with variable performance. Novel artificial intelligence approaches seek to integrate these variables into risk calculators and machine-learning algorithms with an acceptable short-term predictive performance but lack longer-term accuracy. Prospective studies using these approaches are needed. This review summarizes the evidence behind the definitions of remission and recurrence and provide an overview of the available tools to predict and/or diagnose them.
Topics: ACTH-Secreting Pituitary Adenoma; Adenoma; Adrenal Insufficiency; Diagnostic Techniques, Endocrine; Humans; Neoplasm Recurrence, Local; Pituitary ACTH Hypersecretion; Postoperative Complications; Prognosis; Recurrence; Remission Induction; Risk Assessment
PubMed: 33472761
DOI: 10.1016/j.beem.2021.101485 -
Expert Review of Medical Devices May 2024The identification of early-stage colorectal cancers (CRC) and the resection of pre-cancerous neoplastic lesions through colonoscopy allows to decrease both CRC... (Review)
Review
INTRODUCTION
The identification of early-stage colorectal cancers (CRC) and the resection of pre-cancerous neoplastic lesions through colonoscopy allows to decrease both CRC incidence and mortality. However, colonoscopy miss rates up to 26% for adenomas and 9% for advanced adenomas have been reported. In recent years, artificial intelligence (AI) systems have been emerging as easy-to-use tools, potentially lowering the risk of missing lesions.
AREAS COVERED
This review paper focuses on GI Genius device (Medtronic Co. Minneapolis, MN, U.S.A.) a computer-assisted tool designed to assist endoscopists during standard white-light colonoscopies in detecting mucosal lesions.
EXPERT OPINION
Randomized controlled trials (RCTs) suggest that GI Genius is a safe and effective tool for improving adenoma detection, especially in CRC screening and surveillance colonoscopies. However, its impact seems to be less significant among experienced endoscopists and in real-world clinical scenarios compared to the controlled conditions of RCTs. Furthermore, it appears that GI Genius mainly enhances the detection of non-advanced, small polyps, but does not significantly impact the identification of advanced and difficult-to-detect adenoma. When using GI Genius, no complications were documented. Only a small number of studies reported an increased in withdrawal time or the removal of non-neoplastic lesions.
Topics: Humans; Colorectal Neoplasms; Colonoscopy; Adenoma; Artificial Intelligence
PubMed: 38618982
DOI: 10.1080/17434440.2024.2342508 -
Scientific Reports Dec 2022Microscopic evaluation of tissue sections stained with hematoxylin and eosin is the current gold standard for diagnosing thyroid pathology. Digital pathology is gaining...
Microscopic evaluation of tissue sections stained with hematoxylin and eosin is the current gold standard for diagnosing thyroid pathology. Digital pathology is gaining momentum providing the pathologist with additional cues to traditional routes when placing a diagnosis, therefore it is extremely important to develop new image analysis methods that can extract image features with diagnostic potential. In this work, we use histogram and texture analysis to extract features from microscopic images acquired on thin thyroid nodule capsules sections and demonstrate how they enable the differential diagnosis of thyroid nodules. Targeted thyroid nodules are benign (i.e., follicular adenoma) and malignant (i.e., papillary thyroid carcinoma and its sub-type arising within a follicular adenoma). Our results show that the considered image features can enable the quantitative characterization of the collagen capsule surrounding thyroid nodules and provide an accurate classification of the latter's type using random forest.
Topics: Humans; Thyroid Nodule; Diagnosis, Differential; Random Forest; Capsules; Thyroid Neoplasms; Adenoma
PubMed: 36517531
DOI: 10.1038/s41598-022-25788-w -
Diseases of the Colon and Rectum Jul 2020
Topics: Adenoma; Colonoscopy; Gastroenterologists; Humans; Surgeons
PubMed: 32496327
DOI: 10.1097/DCR.0000000000001703 -
Frontiers in Endocrinology 2024Prolactinomas (PRLomas) constitute approximately half of all pituitary adenomas and approximately one-fifth of them are diagnosed in males. The clinical presentation of... (Review)
Review
Prolactinomas (PRLomas) constitute approximately half of all pituitary adenomas and approximately one-fifth of them are diagnosed in males. The clinical presentation of PRLomas results from direct prolactin (PRL) action, duration and severity of hyperprolactinemia, and tumor mass effect. Male PRLomas, compared to females, tend to be larger and more invasive, are associated with higher PRL concentration at diagnosis, present higher proliferative potential, are more frequently resistant to standard pharmacotherapy, and thus may require multimodal approach, including surgical resection, radiotherapy, and alternative medical agents. Therefore, the management of PRLomas in men is challenging in many cases. Additionally, hyperprolactinemia is associated with a significant negative impact on men's health, including sexual function and fertility potential, bone health, cardiovascular and metabolic complications, leading to decreased quality of life. In this review, we highlight the differences in pathogenesis, clinical presentation and treatment of PRLomas concerning the male sex.
Topics: Female; Male; Humans; Prolactinoma; Hyperprolactinemia; Quality of Life; Pituitary Neoplasms; Adenoma
PubMed: 38370355
DOI: 10.3389/fendo.2024.1338345 -
Histopathology Jun 2021Papillary renal neoplasm with reverse polarity (PRNRP) is a newly defined entity with distinct histomorphology and recurrent KRAS mutation. It has been estimated to...
AIMS
Papillary renal neoplasm with reverse polarity (PRNRP) is a newly defined entity with distinct histomorphology and recurrent KRAS mutation. It has been estimated to constitute 4% of previously diagnosed papillary renal cell carcinoma (PRCC). Renal papillary adenoma (PA) is suggested to be the precursor of PRCC. This study aimed to investigate the association between PRNRP and PA, particularly the morphologically similar type D PA.
METHODS AND RESULTS
Nephrectomy specimens of PRCC and PA from our 10-year pathology archives were retrieved and reviewed. GATA3 immunohistochemistry and RAS/BRAF testing were performed in all cases reclassified as PRNRP and all PAs with sufficient materials. Overall, PRNRP accounted for 9.1% (10 of 110) of PRCC and there was no recurrence/metastasis with a mean follow-up period of 39 months. Three novel morphological features were described, including clear cell change, mast cell infiltration and metaplastic ossification. Nine of the 10 PRNRPs showed diffuse and strong GATA3 expression and KRAS missense mutations at codon 12. One case exhibited moderate GATA3 staining on 80% of the tumour cells and RAS/BRAF wild-type. In a total of 73 PAs, 11 were classified as type D. GATA3 expression was significantly more frequent in type D versus non-type D PAs (100 versus 35%, P < 0.01). KRAS missense mutations were identified in six of eight (75%) of the type D PAs but none of the 18 non-type D PAs.
CONCLUSIONS
Type D PA was different from other types of PA and represented an analogue or a small-sized PRNRP for their identical morphology, immunophenotype and molecular signature.
Topics: Adenoma; Aged; Aged, 80 and over; Biomarkers, Tumor; Carcinoma, Papillary; Carcinoma, Renal Cell; Diagnosis, Differential; Female; GATA3 Transcription Factor; Humans; Immunohistochemistry; Kidney; Kidney Neoplasms; Male; Middle Aged; Mutation; Proto-Oncogene Proteins p21(ras)
PubMed: 33351968
DOI: 10.1111/his.14320 -
Clinical Radiology Feb 2024Bronchiolar adenoma/ciliated muconodular papillary tumour (BA/CMPT) is a benign peripheral lung tumour composed of bilayered bronchiolar-type epithelium containing a... (Review)
Review
Bronchiolar adenoma/ciliated muconodular papillary tumour (BA/CMPT) is a benign peripheral lung tumour composed of bilayered bronchiolar-type epithelium containing a continuous basal cell layer; however, the similarities in imaging and tissue biopsy findings at histopathology between BA/CMPT and malignant tumours, including lung adenocarcinoma, pose significant challenges in accurately diagnosing BA/CMPT preoperatively. This difficulty in differentiation often results in misdiagnosis and unnecessary overtreatment. The objective of this article is to provide a comprehensive and systematic review of BA/CMPT, encompassing its clinical manifestations, pathological basis, imaging features, and differential diagnosis. By enhancing healthcare professionals' understanding of this disease, we aim to improve the accuracy of preoperative BA/CMPT diagnosis. This improvement is crucial for the development of appropriate therapeutic strategies and the overall improvement of patient prognosis.
Topics: Humans; Lung Neoplasms; Adenocarcinoma of Lung; Prognosis; Tomography, X-Ray Computed; Adenoma
PubMed: 38049359
DOI: 10.1016/j.crad.2023.10.038 -
Mayo Clinic Proceedings Oct 2022To perform a population-based study of pituitary adenoma epidemiology, including longitudinal trends in disease incidence, treatment patterns, and outcomes.
OBJECTIVE
To perform a population-based study of pituitary adenoma epidemiology, including longitudinal trends in disease incidence, treatment patterns, and outcomes.
PATIENTS AND METHODS
In this study of incident pituitary adenomas in Olmsted County, Minnesota, from January 1, 1989, through December 31, 2019, we identified 785 patients who underwent primary screening, 435 of whom were confirmed as harboring incident pituitary adenomas and were included. Primary outcomes of interest included demographic characteristics, presenting features, and disease outcomes (tumor control, biochemical control, and complications).
RESULTS
Among our 435 study patients, 438 unique pituitary adenomas were diagnosed at a median patient age of 39 years (interquartile range [IQR], 27 to 58 years). Adenomas were incidentally identified in 164 of the 438 tumors (37%). Common symptomatic presentations included hyperprolactinemia (188 of 438 [43%]) and visual field deficit (47 of 438 [11%]). Laboratory tests confirmed pituitary hormone hypersecretion in 238 of the 435 patients (55%), which was symptomatic in 222. The median tumor diameter was 8 mm (IQR, 5 to 17 mm). Primary management strategies were observation (156 of 438 tumors [36%]), medication (162 of 438 tumors [37%]), and transsphenoidal resection (120 of 438 tumors [27%]). Tumor and biochemical control were achieved in 398 (95%) and 216 (91%) secreting tumors, respectively. New posttreatment pituitary or visual deficits were noted in 43 (11%) and 8 (2%); apoplexy occurred in 28 (6%). Median clinical follow-up was 98 months (IQR, 47 to 189 months). Standardized incidence rates were 3.77 to 16.87 per 100,000 population, demonstrating linear expansion over time (R=0.67). The mean overall standardized incidence rate was 10.1 per 100,000 population; final point prevalence was 175.1 per 100,000 population.
CONCLUSION
Pituitary adenoma is a highly incident disease, with prolactin-secreting and incidental lesions representing the majority of tumors. Incidence rates and asymptomatic detection appear to be increasing over time. Presenting symptoms and treatment pathways are variable; however, most patients achieve favorable outcomes with observation or a single treatment modality.
Topics: Adenoma; Adult; Humans; Incidence; Middle Aged; Pituitary Hormones; Pituitary Neoplasms; Prolactin; Retrospective Studies; Treatment Outcome
PubMed: 35753823
DOI: 10.1016/j.mayocp.2022.03.017