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The Oncologist Sep 2021At diagnosis, the majority of patients with intrahepatic cholangiocarcinoma (IHCC) present with advanced disease and a poor prognosis. Comprehensive genomic profiling...
BACKGROUND
At diagnosis, the majority of patients with intrahepatic cholangiocarcinoma (IHCC) present with advanced disease and a poor prognosis. Comprehensive genomic profiling (CGP) early in the disease course may increase access to targeted therapies and clinical trials; however, unresolved issues remain surrounding the optimal biopsy type to submit for CGP.
PATIENTS AND METHODS
Mutational frequencies between primary tumor biopsies (Pbx), metastatic biopsies (Mbx), and liquid biopsies (Lbx) in 1,632 patients with IHCC were compared.
RESULTS
Potentially actionable alterations were found in 52%, 34%, and 35% of patients in the Pbx, Mbx, and Lbx cohorts, respectively. In Pbx, Mbx, and Lbx, FGFR2 rearrangements were found in 9%, 6%, and 4%, and IDH1 mutations were identified in 16%, 5%, and 9% patients, respectively. Moreover, alterations in FGFR2 and IDH1 were significantly associated with distinct ancestries, including 2.1-fold enrichment for FGFR2 rearrangements in patients with African ancestry and 1.5-fold enrichment for IDH1 mutations in patients with admixed American (Hispanic) ancestry. Finally, the publication of biomarker-driven clinical trials in IHCC correlated with changing CGP testing patterns. Significant correlations between patient characteristics and IHCC trial disclosures were observed, including a significant decrease from time between biopsy and CGP testing, and more frequent testing of primary versus metastatic samples.
CONCLUSION
Overall, because of the high likelihood of identifying actionable genomic alterations, CGP should be considered for the majority of patients with inoperable IHCC, and Lbx and Mbx can be considered as part of the diagnostic suite.
IMPLICATIONS FOR PRACTICE
Comprehensive genomic profiling (CGP) should be considered for all patients with intrahepatic cholangiocarcinoma (IHCC) or suspected IHCC, as actionable alterations were commonly found in multiple genes and a wide variety of FGFR2 fusion partners were identified. The disclosure of IHCC trial data correlated with increased use of CGP, an encouraging trend that moves new therapeutic options forward for rare cancers with a rare biomarker. Although tissue from the primary lesion may identify actionable alterations at higher rates, CGP of a liquid biopsy or metastatic site can be considered, particularly if the primary tissue block is exhausted.
Topics: Bile Duct Neoplasms; Bile Ducts, Intrahepatic; Biopsy; Cholangiocarcinoma; Genomics; Humans
PubMed: 34080753
DOI: 10.1002/onco.13844 -
Medicina Oral, Patologia Oral Y Cirugia... Jan 2021To investigate the relative frequency of localized mucosal swellings of the upper and lower labial mucosa, the clinical-pathological diagnosis agreement and whether...
BACKGROUND
To investigate the relative frequency of localized mucosal swellings of the upper and lower labial mucosa, the clinical-pathological diagnosis agreement and whether patient's age and gender and tumor's site and size may raise the suspicion of neoplasm.
MATERIAL AND METHODS
Retrospective analysis was performed on upper or lower labial mucosal tumors, histopathologically diagnosed between 2009-2018. The diagnostic categories developmental/reactive tumors, benign and malignant neoplasms were associated with patient's age and gender and tumor's site and size; clinical-pathological diagnosis agreement was, also, evaluated.
RESULTS
Overall, 1000 (95.7%) developmental/reactive tumors, 35 (3.3%) benign and 10 (1%) malignant neoplasms were found. Upper/lower lip tumor ratio was 0.14:1. The diagnostic category was significantly associated with age (p<0.0001), site (p<0.0001) and diameter (p<0.0001). Age ≥60 years, tumor's location on the upper lip and diameter >1cm were independent predictors for neoplasms. Patients presenting 2 or 3 of these variables were 20.2 times (p < 0.0001) or 33.6 times (p < 0.0001), respectively, more likely to have a neoplasm. Complete/partial agreement between clinical and pathological diagnosis was seen in 96.3% of the cases.
CONCLUSIONS
Most lip tumors involve the lower lip and are reactive, but upper lip tumors measuring >1cm in patients≥60 years have significantly higher probability to be neoplasms.
Topics: Biopsy; Humans; Lip; Lip Neoplasms; Mouth Mucosa; Retrospective Studies
PubMed: 32851990
DOI: 10.4317/medoral.23933 -
Journal of the American Academy of... Feb 2021
Topics: Anatomic Landmarks; Biopsy; Dermatology; Head and Neck Neoplasms; Humans; Preoperative Care; Scalp; Skin; Skin Neoplasms
PubMed: 32222453
DOI: 10.1016/j.jaad.2020.03.044 -
Australian Journal of General Practice Apr 2018The skin biopsy is a simple but essential clinical skill of the general practitioner. Performed properly, it can be quick and comfortable for the patient, and yield a...
BACKGROUND
The skin biopsy is a simple but essential clinical skill of the general practitioner. Performed properly, it can be quick and comfortable for the patient, and yield a very high level of diagnostic information. Performed incorrectly, it can lead to delays in diagnosis and treatment for the patient.
OBJECTIVE
This article reviews some simple but effective steps the clinician can take to ensure proper technique and maximise the diagnostic accuracy of their skin biopsies.
DISCUSSION
Diagnostic accuracy can be improved through optimal selection of biopsy site, correct biopsy technique, requesting ancillary tests where appropriate, proper handling of specimens, and providing detailed clinical information for the dermatopathologist.
Topics: Biopsy; Diagnosis, Differential; Humans; Skin; Skin Diseases
PubMed: 29621863
DOI: 10.31128/AFP-10-17-4376 -
The British Journal of Radiology Mar 2022Determine the multiparametric magnetic resonance imaging (mpMRI) appearance of the prostate following focal laser ablation (FLA) for PCa and to identify imaging...
OBJECTIVE
Determine the multiparametric magnetic resonance imaging (mpMRI) appearance of the prostate following focal laser ablation (FLA) for PCa and to identify imaging characteristics associated with recurrent disease.
METHODS
Retrospective analysis of patients who underwent FLA for low-intermediate risk PCa between 2010 and 2014 was performed. Early (median 4 months) and late mpMRI (median 49 months) follow-up were qualitatively assessed for -weighted, dynamic contrast enhanced (DCE) and diffusion weighted imaging (DWI) appearances and also compared to corresponding PSA values and biopsy results.
RESULTS
55 cancers were treated in 54 men (mean age 61.0 years). Early mpMRI was performed in 30 (54.5%) patients while late follow-up mpMRI in 42 (84%). Ill-defined scarring with and without atrophy at the treatment site were the most common appearances. In patients with paired MRI and biopsy, one of four patients with clinically significant PCa on biopsy (≥GG2 or≥6 mm GG1) showed hyperenhancement or restricted diffusion at early follow-up. At late follow-up, positive biopsies were seen in 5/8 (63%) cases with hyperenhancement and 5/6 (83%) cases with restricted diffusion at the treatment site. PSA change was not associated with biopsy results at either time point.
CONCLUSION
mpMRI is able to document the morphological and temporal changes following focal therapy. It has limited ability to detect recurrent disease in early months following treatment. Late-term mpMRI is sensitive at identifying patients with recurrent disease. Small sample size is, however, a limitation of the study.
ADVANCES IN KNOWLEDGE
Implementing MRI in follow-up after FT may be useful in predicting residual or recurrent PCa and therefore provide reliable outcome data.
Topics: Biopsy; Contrast Media; Humans; Laser Therapy; Male; Middle Aged; Multiparametric Magnetic Resonance Imaging; Prostatic Neoplasms; Retrospective Studies
PubMed: 34324385
DOI: 10.1259/bjr.20210414 -
Journal of Biomedical Optics Aug 2021Screening and early detection of oral potentially malignant lesions (OPMLs) are of great significance in reducing the mortality rates associated with head and neck...
Bimodal multispectral imaging system with cloud-based machine learning algorithm for real-time screening and detection of oral potentially malignant lesions and biopsy guidance.
SIGNIFICANCE
Screening and early detection of oral potentially malignant lesions (OPMLs) are of great significance in reducing the mortality rates associated with head and neck malignancies. Intra-oral multispectral optical imaging of tissues in conjunction with cloud-based machine learning (CBML) can be used to detect oral precancers at the point-of-care (POC) and guide the clinician to the most malignant site for biopsy.
AIM
Develop a bimodal multispectral imaging system (BMIS) combining tissue autofluorescence and diffuse reflectance (DR) for mapping changes in oxygenated hemoglobin (HbO2) absorption in the oral mucosa, quantifying tissue abnormalities, and guiding biopsies.
APPROACH
The hand-held widefield BMIS consisting of LEDs emitting at 405, 545, 575, and 610 nm, 5MPx monochrome camera, and proprietary Windows-based software was developed for image capture, processing, and analytics. The DR image ratio (R610/R545) was compared with pathologic classification to develop a CBML algorithm for real-time assessment of tissue status at the POC.
RESULTS
Sensitivity of 97.5% and specificity of 92.5% were achieved for discrimination of OPML from patient normal in 40 sites, whereas 82% sensitivity and 96.6% specificity were obtained for discrimination of abnormal (OPML + SCC) in 89 sites. Site-specific algorithms derived for buccal mucosa (27 sites) showed improved sensitivity and specificity of 96.3% for discrimination of OPML from normal.
CONCLUSIONS
Assessment of oral cancer risk is possible by mapping of HbO2 absorption in tissues, and the BMIS system developed appears to be suitable for biopsy guidance and early detection of oral cancers.
Topics: Algorithms; Biopsy; Cloud Computing; Early Detection of Cancer; Humans; Machine Learning; Sensitivity and Specificity
PubMed: 34402266
DOI: 10.1117/1.JBO.26.8.086003 -
Saudi Journal of Gastroenterology :... 2022Updated Sydney system (USS) recommends taking biopsies from certain areas of the stomach for the diagnosis of precancerous lesions associated with Helicobacter pylori....
BACKGROUND
Updated Sydney system (USS) recommends taking biopsies from certain areas of the stomach for the diagnosis of precancerous lesions associated with Helicobacter pylori. Our aim was to evaluate the contribution of each of the biopsy sites to the diagnosis.
METHODS
This prospective study included 97 patients aged 40 and over with dyspeptic complaints. Biopsies were taken from five regions: the lesser curvature of the antrum (LCA), the lesser curvature of the corpus (LCC), incisura angularis (IA), the greater curvature of the antrum (GCA), and the greater curvature of the corpus (GCC). Biopsy specimens were stained with hematoxylin-eosin stain, periodic acid Schiff-alcian blue, and Giemsa histochemical stain and evaluated according to the Sydney classification.
RESULTS
Thirty-seven (38%) patients were positive for H. pylori in at least one biopsy site. Atrophic gastritis without intestinal metaplasia (IM) was found in 17 (17.5%) of the patients (6.2% in IA, 5.2% in each of LCA, GCA, and LCC, and 2% in GCC). The prevalence of atrophic gastritis with IM was 42.3% (21.6% in LCA, 20.6% in GCA, 20.6% in IA, 14.4% in LCC, and 5.2% in GCC). Endoscopic follow-up was planned in 21 (22%) patients due to the presence of extensive atrophy or incomplete IM. If a single biopsy of the LCA or a biopsy of both LCA and GCA was taken, endoscopic follow-up would have been missed in 12 (57%) or 6 (29%) patients, respectively.
CONCLUSION
Taking biopsies in accordance with the USS had higher sensitivity in detecting atrophic gastritis with or without IM compared to single biopsy. One or two biopsies is not sufficient to identify patients for whom endoscopic follow-up is recommended.
Topics: Humans; Adult; Middle Aged; Gastritis, Atrophic; Gastric Mucosa; Prospective Studies; Helicobacter pylori; Metaplasia; Biopsy; Helicobacter Infections
PubMed: 35899924
DOI: 10.4103/sjg.sjg_146_22 -
Clinical and Translational Science Sep 2019The evolution of chemistries and instrument platforms for next-generation sequencing has led to sequencing of genomic variants in both tumor biopsies as well as in... (Review)
Review
The evolution of chemistries and instrument platforms for next-generation sequencing has led to sequencing of genomic variants in both tumor biopsies as well as in circulating tumor cells (CTCs) and cell-free DNA liquid biopsies. The transition of these analytical platforms into clinical ones has led to challenges in product development as well as regulatory strategies for the approval of diagnostic products with these platforms. Regulatory strategies for liquid biopsy diagnostics depend on a framework that has been developed over the past few years by the US Food and Drug Administration (FDA). This framework includes both guidances that cover enrichment biomarkers and companion diagnostics, as well as regulatory approval precedents, which can be used to design regulatory strategies for new liquid biopsy diagnostic products. However, the regulatory paths for these liquid biopsy diagnostics can also be tortuous, as is the example of CTC-platform liquid biopsies. The ultimate success of regulatory pathways of liquid biopsy diagnostics has been driven by the incremental value of FDA approval for Clinical Laboratory Improvement Amendment (CLIA)-developed tests and by the inherent complexity of these diagnostics, which are practical barriers for the widespread replication of these tests throughout CLIA laboratories. The framework for FDA approval of sequence information from these liquid biopsies has been focused on single-site approvals of diagnostics where sequencing information is considered at different diagnostic risk levels, ranging from novel or follow-on companion diagnostics to variant calls in genomic targets considered independently valuable for therapeutic decision making.
Topics: Cell-Free Nucleic Acids; Diagnostic Test Approval; High-Throughput Nucleotide Sequencing; Humans; Liquid Biopsy; Neoplastic Cells, Circulating; Social Control, Formal; United States; United States Food and Drug Administration
PubMed: 31162800
DOI: 10.1111/cts.12657 -
JAMA Dermatology Oct 2022Nonmelanoma skin cancers (NMSCs) are primarily diagnosed through paraffin section histologic analysis of skin biopsy specimens that requires days to weeks before a...
IMPORTANCE
Nonmelanoma skin cancers (NMSCs) are primarily diagnosed through paraffin section histologic analysis of skin biopsy specimens that requires days to weeks before a formal diagnosis is reported. Two-photon fluorescence microscopy (TPFM) has the potential for point-of-care diagnosis of NMSC and other dermatologic conditions, which could enable same-visit diagnosis and treatment.
OBJECTIVE
To demonstrate that TPFM imaging of NMSC can occur within minutes of obtaining biopsies and provide similar histological features to those of conventional histology and evaluate TPFM diagnostic performance with respect to conventional histology.
DESIGN, SETTING, AND PARTICIPANTS
This comparative effectiveness pilot study examined 29 freshly excised biopsies from confirmed NMSC lesions in patients presenting for treatment. Biopsies underwent imaging immediately with TPFM on site at Rochester Dermatologic Surgery (Victor, New York) between October 2019 and August 2021. The imaged biopsies were subsequently submitted for paraffin histology to produce coregistered images. Twelve of these coregistered image pairs (41.4%) were used as a training set. Fifteen (51.7%) were used in a masked evaluation by a board-certified dermatopathologist. Two (6.9%) were excluded from the study before evaluation because they could not be coregistered.
MAIN OUTCOMES AND MEASURES
Sensitivity, specificity, and accuracy of TPFM for NMSC biopsies were evaluated compared with conventional histology.
RESULTS
Fourteen of the 15 biopsy specimens (93.3%) in the evaluation set were identically diagnosed with TPFM and paraffin histology. The TPFM had 100% sensitivity (95% CI, 48%-100%), 100% specificity (95% CI, 69%-100%), and 100% accuracy (95% CI, 78%-100%) for basal cell carcinoma diagnosis. For squamous cell carcinoma diagnosis, TPFM had 89% sensitivity (95% CI, 52%-100), 100% specificity (95% CI, 54%-100%), and 93% accuracy (95% CI, 68%-100%). For overall NMSC diagnosis, TPFM had a 93% sensitivity (95% CI, 66%-100%), 100% specificity (95% CI, 3%-100%), and 93% accuracy (95% CI, 68%-100%). Examination of the 1 discordant pair revealed mismatched imaging planes as the source of error.
CONCLUSIONS AND RELEVANCE
The results of this comparative effectiveness pilot study suggest that TPFM captures histological characteristics of NMSC that are present in conventional histology, which reveals its potential as a rapid, point-of-care diagnostic alternative that does not need extensive sample preparation or retraining for image evaluation. Further validation of TPFM imaging performed for a larger cohort is needed to fully evaluate its diagnostic accuracy and potential effect within the field.
Topics: Humans; Pilot Projects; Paraffin; Dermatology; Carcinoma, Basal Cell; Skin Neoplasms; Biopsy; Microscopy, Fluorescence
PubMed: 36069886
DOI: 10.1001/jamadermatol.2022.3628 -
The Journal of Thoracic and... May 2015Surgical lung biopsy plays an important role in providing pathologic results, thus complementing the diagnostic rationale for suspected interstitial lung diseases. We... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Surgical lung biopsy plays an important role in providing pathologic results, thus complementing the diagnostic rationale for suspected interstitial lung diseases. We performed a systematic review and meta-analysis regarding the diagnostic yield and postoperative mortality rate of surgical lung biopsy in patients with suspected interstitial lung diseases because of the wide variation in previously reported effectiveness and safety concerns.
METHODS
We systematically searched for published studies between 2000 and 2014 evaluating surgical lung biopsy in the diagnosis of interstitial lung diseases. Subgroup analysis was performed to identify the possible source of study heterogeneity.
RESULTS
Twenty-three studies contributed 2148 patients for the analysis. The median diagnostic yield was 95% (range, 42%-100%), with idiopathic pulmonary fibrosis as the most frequent diagnosis (618, 33.5%). Surgical lung biopsy was mainly guided by high-resolution computed tomography manifestations. Biopsy site, biopsy number, and the surgical lung biopsy method may not be associated with the diagnostic accuracy. The pooled postoperative mortality rate for included studies was 3.6% (95% confidence interval, 2.1-5.5), with significant heterogeneity observed. Subgroup analysis revealed that exclusion criteria based on immunocompromised status, mechanical ventilation, and severe respiratory dysfunction (diffusing capacity of lung for carbon monoxide <35% or forced vital capacity <55% predicted), but not surgical lung biopsy technique or underlying interstitial lung disease subtype, may be possible sources of heterogeneity.
CONCLUSIONS
We demonstrated a satisfactory diagnostic performance with a favorable safety profile of surgical lung biopsy in the diagnosis of suspected interstitial lung diseases. Surgical lung biopsy is especially recommended in patients with clinical information indicative but atypical of idiopathic pulmonary fibrosis, whereas the benefit of surgical lung biopsy should be carefully balanced against the risk for patients with immunocompromised status, mechanical ventilation dependence, or severe respiratory dysfunction.
Topics: Biopsy; Humans; Lung Diseases, Interstitial; Predictive Value of Tests; Risk Assessment; Risk Factors; Tomography, X-Ray Computed
PubMed: 25648484
DOI: 10.1016/j.jtcvs.2014.12.057