This review will systematically highlight the pros and cons of cervical cancer screening with HPV (human papillomavirus) testing and cytological methods (Papanicolaou (Pap) test). When comparing the ...screening modalities, various facets will be addressed, such as cost effectiveness, and harms and benefits across different demographics and age groups. It is important to note that due to the expansive variance in material costs, practices, and resource availability across different geographical regions, these comparisons are far from straight forward, and ultimately make it challenging to render definitive global recommendations. Thus, the intent of this review is to highlight some of the differences in difference cervical cancer screening modalities that can help one to choose an optimal screening method in their specific situation.
DNA-based testing of pancreatic cyst fluid (PCF) is a useful adjunct to the evaluation of pancreatic cysts (PCs). Mutations in
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are highly specific for intraductal papillary mucinous neoplasms ...(IPMNs) and mucinous cystic neoplasms (MCNs), while
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alterations are associated with advanced neoplasia. A prospective study was performed to evaluate preoperative PCF DNA testing.
Over 43-months, 626 PCF specimens from 595 patients were obtained by endoscopic ultrasound (EUS)-fine needle aspiration and assessed by targeted next-generation sequencing (NGS). Molecular results were correlated with EUS findings, ancillary studies and follow-up. A separate cohort of 159 PCF specimens was also evaluated for
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mutations by Sanger sequencing.
mutations were identified in 308 (49%) PCs, while alterations in
were present in 35 (6%) cases. Based on 102 (17%) patients with surgical follow-up,
mutations were detected in 56 (100%) IPMNs and 3 (30%) MCNs, and associated with 89% sensitivity and 100% specificity for a mucinous PC. In comparison,
mutations by Sanger sequencing had a 65% sensitivity and 100% specificity. By NGS, the combination of
mutations and alterations in
had an 89% sensitivity and 100% specificity for advanced neoplasia. Ductal dilatation, a mural nodule and malignant cytopathology had lower sensitivities (42%, 32% and 32%, respectively) and specificities (74%, 94% and 98%, respectively).
In contrast to Sanger sequencing, preoperative NGS of PCF for
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mutations is highly sensitive for IPMNs and specific for mucinous PCs. In addition, the combination of
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alterations is a useful preoperative marker for advanced neoplasia.
Workup of the poorly differentiated or undifferentiated tumor remains a significant and challenging entity in the practice of anatomic pathology. Particularly in the setting of small biopsies and ...limited material, these cases demand a balanced approach that considers the patient's clinical and radiologic presentation, a basic assessment of tumor morphology, a reasonably broad immunohistochemical panel, and diligent preservation of tissue for prognostic and therapeutic studies.
To illustrate some of the new and emerging immunohistochemical markers in the evaluation of tumors with undifferentiated or poorly differentiated morphology, with a focus on the workup in limited tissue samples to raise awareness of the issues involved with the pathologic workup in these challenging tumors.
A literature review of new ancillary studies that can be applied to cytologic specimens was performed.
Knowledge of the patient's history and communication with the patient's clinical team is essential in formulating a differential diagnosis that can appropriately limit the differential diagnosis based on morphology, especially in small specimens. This information, in conjunction with classifying the tumor morphology (eg, epithelioid, spindled, neuroendocrine, basaloid/biphasic, mixed) gives a logical approach to choose an initial immunohistochemical panel. Fortunately, immunohistochemistry is evolving quickly in the wake of groundbreaking molecular studies to develop new and better markers to further classify these difficult tumors beyond where we traditionally have been able to go.
Mesothelioma has always been a challenging diagnosis to render in body cavity cytology samples. This review is a timely update on pleural fluid cytology and ancillary studies that should be ...considered in the diagnosis of mesothelial proliferations, specifically mesotheliomas. Information about new diagnostic approaches and ancillary studies in mesothelioma was obtained from the peer‐reviewed literature and the authors' experiences. Although the morphological diagnosis of mesothelioma is fraught with numerous challenges given the overlap with other diagnostic entities, there are a variety of immunohistochemical and fluorescence in situ hybridization studies available to help in determining mesothelial origin and in distinguishing malignant proliferations from the more common benign or reactive mesothelial proliferations. Although ancillary studies can be helpful, there are important pitfalls to be aware of when interpreting these cases, and this review highlights some of the challenges that require caution.
The authors provide a comprehensive review of morphological criteria and differential diagnosis of pleural mesotheliomas in effusion samples. This review highlights some of the challenges and important pitfalls in the interpretation of ancillary studies such as BAP1 and CDKN2A homozygous deletion.
- Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has emerged as a very useful tool in the field of diagnostic respiratory cytology. Rapid on-site evaluation (ROSE) of ...EBUS-TBNA not only has the potential to improve diagnostic yield of the procedure but also to triage samples for predictive molecular testing to guide personalized treatments for lung cancer.
- To provide an overview of the current status of the literature regarding ROSE of EBUS-TBNA in the diagnosis of lung cancer.
- An electronic literature search in PubMed and Google databases was performed using the following key words: cytology, lung cancer, on-site evaluation, rapid on-site evaluation, and ROSE EBUS-TBNA. Only articles published in English were included in this review.
- Rapid on-site evaluation can ensure that the targeted lesion is being sampled and can enable appropriate specimen triage. If available, it should be used with EBUS-TBNA in the diagnosis of lung cancer because it can minimize repeat procedures for additional desired testing (ie, molecular studies). Some studies have shown that ROSE does not adversely affect the number of aspirations, total procedure time of EBUS-TBNA, or the rate of postprocedure complications; it is also helpful in providing a preliminary diagnosis that can reduce the number of additional invasive procedures, such as mediastinoscopy. As EBUS technology continues to evolve, our knowledge of the role of ROSE in EBUS-TBNA for the diagnosis of lung cancer will also continue to grow and evolve.
Despite improvements in imaging, serum CA19-9 and pathological evaluation, differentiating between benign and malignant bile duct strictures remains a diagnostic conundrum. Recent developments in ...next-generation sequencing (NGS) have opened new opportunities for early detection and management of cancers but, to date, have not been rigorously applied to biliary specimens.
We prospectively evaluated a 28-gene NGS panel (BiliSeq) using endoscopic retrograde cholangiopancreatography-obtained biliary specimens from patients with bile duct strictures. The diagnostic performance of serum CA19-9, pathological evaluation and BiliSeq was assessed on 252 patients (57 trainings and 195 validations) with 346 biliary specimens.
The sensitivity and specificity of BiliSeq for malignant strictures was 73% and 100%, respectively. In comparison, an elevated serum CA19-9 and pathological evaluation had sensitivities of 76% and 48%, and specificities of 69% and 99%, respectively. The combination of BiliSeq and pathological evaluation increased the sensitivity to 83% and maintained a specificity of 99%. BiliSeq improved the sensitivity of pathological evaluation for malignancy from 35% to 77% for biliary brushings and from 52% to 83% for biliary biopsies. Among patients with primary sclerosing cholangitis (PSC), BiliSeq had an 83% sensitivity as compared with pathological evaluation with an 8% sensitivity. Therapeutically relevant genomic alterations were identified in 20 (8%) patients. Two patients with
-amplified cholangiocarcinoma received a trastuzumab-based regimen and had measurable clinicoradiographic response.
The combination of BiliSeq and pathological evaluation of biliary specimens increased the detection of malignant strictures, particularly in patients with PSC. Additionally, BiliSeq identified alterations that may stratify patients for specific anticancer therapies.
•Initiating a pathologist-performed ultrasound-guided fine needle aspiration (USG-FNA) biopsy clinic is a challenging task that requires consideration of multiple factors.•Some of the key ...considerations include training, certification, privileges, equipment, documentation, information technology (IT) issues, and the overall business plan or financial component..
Ultrasound-guided fine needle aspiration (USG-FNA) biopsies have traditionally been performed in the radiology department, with radiologists performing the procurement with or without on-site cytotechnologists or pathologists to provide adequacy or diagnostic evaluation of the specimen. However, more recently, these image-guided biopsies have been performed by endocrinologists and now cytopathologists. Starting an USG-FNA service is a big task that requires consideration of multiple factors, including training, certification, privileges, equipment, documentation, information technology (IT) issues, and the overall business plan or financial component. In this review, the issues confronted when bringing on an USG-FNA service are discussed in detail in an effort to highlight the issues and challenges that many cytopathology laboratories are facing when implementing this new service.
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