American journal of clinical pathology最新文献

Objective: To identify molecular markers that predict advanced disease in mucin-producing cystic neoplasms of the pancreas.

Methods: In this single-institution study, 454 pancreatic cystic fluid specimens were examined by a clinical next-generation sequencing assay.

Results: TP53 mutations were detected in 25 (7.9%) of 318 specimens harboring KRAS (BRAF or GNAS) mutation(s). Of the 25, 12 had advanced cytology/histology (positive group), and 5 did not have advanced cytology/histology (negative group). Eight cases were classified as indeterminate. Since KRAS and TP53 variant allele frequencies (VAFs) can be as low as 1% to 5%, we analyzed the TP53/KRAS VAF ratio and demonstrated a significantly higher VAF ratio in the positive group (P = .005). A VAF ratio of 1 or higher, interpreted as an indicator of a dominant TP53 clone, and concurrent TP53, CDKN2A, and SMAD4 mutations were seen only in the positive group. Lower TP53 ratios, interpreted as a minor TP53 clone, were seen in all 5 negative group specimens.

Conclusions: These results suggest that VAF ratios and concurrent mutations can be incorporated into multimodality assessments of pancreatic cysts. Longitudinal studies in patients with a lower initial TP53 VAF ratio are warranted to elucidate whether serial VAF ratios are more accurate markers than a single VAF measurement.

Objective: Myelodysplastic syndrome (MDS) is a heterogeneous set of neoplasms that require careful exclusion of potential mimics before diagnosis. In the absence of identified recurrent cytogenetic or molecular genetic alterations, low-grade MDS can be particularly challenging to diagnose. Despite years of accumulating data demonstrating atypical flow cytometry findings associated with MDS, flow cytometry fails to find significant widespread use for diagnosing MDS primarily due to the varied and often subtle altered flow cytometry findings observed. To address this issue, several groups have developed and reported scoring systems to help discriminate MDS from non-MDS using flow cytometry. Our objective in this article is to review the published scoring systems, as well as emerging role of machine learning in MDS diagnosis.

Methods: Herein, we review many of the recurrent flow cytometric findings and associated reported scoring systems. We also review recent applications of machine learning to MDS and discuss its potential for enabling widespread use of the technology to assist in diagnosing MDS.

Results: Several of the published scoring systems are modified versions of or additions to the Ogata scoring system, with the ELN iFS score performing well in comparison studies. New and evolving machine learning approaches have the potential to facilitate improved use of flow cytometry for faster and more accurate MDS detection and have helped identify more useful features, such as erythroid cell SSC.

Conclusions: Flow cytometry provides additional information that can help in diagnosis of MDS. Multiple scoring systems now exist that have significant potential to improve the standard approach to diagnosing MDS. Although requiring further development and validation, machine learning methods appear promising as an even more sensitive, specific, and rapid approach to using clinical flow cytometry for identification of MDS than the various prior reported scoring methods. We look forward to furthering improvements in flow cytometry for evaluation of patients with MDS, particularly through the developing use of machine learning approaches and other computational methods.

Objective: Colorectal cancer surveillance recommendations rely on polyp counts to determine optimal intervals. This study aims to uncover discrepancies in polyp counts between colonoscopy and pathology reports and their clinical implications.

Methods: A retrospective review of 1293 polyp cases from October 1 to December 31, 2019, was performed, comparing the reported number of polyps removed to the number identified pathologically (gross and microscopic). Cases with discrepant polyp counts prompted additional reviews, including colonoscopy reports and glass slides. The potential impact on surveillance interval decisions was further assessed.

Results: Of the 1293 polyp specimens from 600 patients, 1072 (83%) contained a single polyp per container, with no discrepancies. However, in the remaining 221 (17%) specimens that had multiple polyps submitted per container, an exact polyp count was indeterminable in 54 (24%) of these 221 specimens. Among these, polyp count discrepancies in 15 patients potentially influenced surveillance intervals. Overall, the most common discrepancy was a higher number of fragments on gross description and/or glass slides compared to colonoscopy reports and/or a container designator.

Conclusions: Discrepancies in polyp counts more often occur when more than 1 polyp is submitted in a single container. These discrepancies may alter the recommended surveillance colonoscopy intervals. Therefore, close collaboration between pathology and colonoscopy providers-through improved endoscopic documentation, specimen handling, reporting strategies, and feedback-is essential to ensure accurate polyp counts and mitigate these effects. Adopting a single polyp per container approach in those cases where polyp count matters would significantly improve report accuracy and ensure the most appropriate surveillance intervals.

Objective: To investigate the predictive value of the neutrophil-to-high-density lipoprotein ratio (NHR) for residual or recurrent cervical intraepithelial neoplasia (CIN) after a loop electrosurgical excision procedure (LEEP) and to develop a nomogram model with multiple variables for identifying high-risk patients.

Methods: A retrospective cohort of 282 patients with CIN treated by LEEP was analyzed. Clinical, laboratory, and follow-up data were collected. Univariate and multivariate logistic regression were used to find independent risk factors, and a nomogram model was constructed. The model's discrimination, calibration, and clinical utility were evaluated by the receiver operating characteristic curve, Hosmer-Lemeshow test, calibration curve, and decision curve analysis.

Results: Among 282 patients, 44 (15.6%) had residual or recurrent CIN. Multivariate analysis found CIN grade 3, positive surgical margins, elevated fibrinogen levels, and increased NHR as independent risk factors. The NHR had good sensitivity and specificity in predicting post-LEEP residual or recurrent CIN. The nomogram model had an area under the curve of 0.858. Calibration plots and the Hosmer-Lemeshow test showed good fit, and decision curve analysis suggested net clinical benefit and applicability.

Conclusions: The NHR, combined with fibrinogen, CIN grading, and margin status, can predict residual or recurrent CIN after LEEP. The nomogram model can guide high-risk patients' postoperative management. Prospective validation in large cohorts is needed.

Objective: ERG gene fusions are present in up to 60% of localized prostate cancer and up to 45% of metastatic prostate cancer. Fluorescence in situ hybridization (FISH) assays can detect the vast majority of ERG gene fusions and help confirm prostatic origin. We reviewed clinical ERG FISH assays performed at our tertiary institution by our in-house consult services between 2016 and 2024 where prostatic adenocarcinoma was in the differential diagnosis.

Methods: We summarized clinical information, immunohistochemistry results (including ERG), and ERG FISH status in a cohort of 15 consecutive clinical ERG FISH assays performed for 14 patients in whom a diagnosis of prostatic adenocarcinoma was considered.

Results: ERG FISH testing was positive in 7 of 15 (46.7%) cases, indeterminate in 1 of 15 (6.7%) cases, and negative in 7 of 15 (46.7%) cases. In 6 of 7 (85.7%) positive cases, the ERG FISH-positive result supported prostatic origin in metastatic (n = 4) or undifferentiated (n = 2) disease.

Conclusions: Use of clinical ERG FISH assays may help confirm prostatic origin in the setting of localized or metastatic carcinoma showing poor differentiation or transdifferentiation and thus help determine the correct diagnosis and direct appropriate clinical management for such patients.

Objectives: Special AT-rich sequence binding protein 2 (SATB2) is a sensitive immunohistochemical marker of colorectal origin. Loss of SATB2 staining in colorectal cancer (CRC) has been associated with adverse outcomes, poor response to chemotherapy, and clinicopathologic features. This study summarizes the survival outcomes and clinicopathologic associations of SATB2 expression and CRC.

Methods: A literature search for studies of survival outcomes and clinicopathologic associations of SATB2 in CRC was undertaken. Meta-analysis with random-effects models was used to combine data.

Results: We analyzed 17 published studies comprising 7733 patients. SATB2 loss was seen in 19% of cases (risk ratio [RR], 0.19 [95% CI, 0.14-0.27]). SATB2 loss was associated with worse overall survival (RR, 0.76 [95% CI, 0.70-0.84]; P < .001) and worse disease-free survival (RR, 0.78 (95% CI, 0.72-0.86]; P < .001). SATB2 loss was associated with more advanced overall stage, nodal involvement, distant metastases, and right-sided tumor location. Loss was also associated with high-risk histologic features, including poor differentiation; lymphatic, venous, and perineural invasion; mucinous and signet ring histology; and tumor budding. SATB2 loss was also seen more commonly in microsatellite unstable and BRAF-mutated cases but was not associated with KRAS mutation.

Conclusions: Loss of SATB2 staining in CRC is associated with inferior survival outcomes and adverse clinicopathologic features.

Objective: We sought to optimize inpatient critical value reporting using an intelligent voice outbound call system to improve the timeliness of notifications and efficiency of clinical acknowledgment as well as reduce management costs.

Methods: We collaborated across departments to redesign our critical value process. Critical values are divided into 2 classes based on clinical background, the extent of clinical occurrence, predictability, and the efficiency of timely clinical acknowledgment. An intelligent voice system was integrated with the hospital information system, laboratory information system, and internal hospital platform.

Results: The outbound call system placed calls for 61.68% of critical values, achieving a 78.63% success rate and 97.96% effectiveness rate. Manual phone notifications accounted for only 3.98%. The timely notification rate reached 95.47%, with a mean notification time of 12.36 minutes (95% CI, 11.92-12.79 minutes). The timely acknowledgment rate for critical values was 72.95%, with 46.24% of critical values being promptly addressed through clinical rapid acknowledgment (Network-Acknowledgment), 26.35% through the outbound call system (Outbound call-Acknowledgment), and 0.36% through manual phone-based communication (Manual telephone-Acknowledgment).

Conclusions: The application of the intelligent outbound call system in the closed-loop management of critical values substantially improved the timeliness of notifications and acknowledgment efficiency, reduced the workload of manual phone notifications, and achieved a fully paperless critical value management process. This system not only enhanced the hospital's management level but also provided strong support for improving clinical diagnosis and treatment quality.

Objective: In this study, we aimed to determine the frequency, distribution, and phenotype of terminal deoxynucleotidyl transferase (TdT)-positive precursor cells in reactive lymphadenopathies; clarify the clinical significance of this expression; and present new data to the existing literature.

Methods: We retrospectively reviewed 152 excisional lymph node biopsy specimens diagnosed as reactive lymphoid hyperplasia (January 2023 to April 2024). Slides were evaluated primarily by hematoxylin and eosin and TdT immunohistochemistry. Then, dual immune staining (TdT/CD3, TdT/CD5, TdT/CD20, TdT/CD79a, TdT/CD10, and TdT/CD34) was applied to determine the characterization of TdT+ cells. Clinicopathologic variables (age group, sex, site, and histologic pattern) were recorded and compared.

Results: The TdT+ cells were detected in 13 of 152 cases (8.5%). These cells were primarily localized in the interfollicular regions of the lymph nodes, in areas close to the high endothelial venules. The TdT+ cells were slightly larger than lymphocytes and were seen individually or in small clusters (<10 cells). It was determined that some TdT+ cells coexpressed CD10 and/or CD34 by double immunostaining (mean 5.36%, up to 12% of TdT+ cells), suggesting that these cells are compatible with the common lymphoid precursor phenotype. No coexpression with CD3, CD5, CD20, or CD79a was observed.

Conclusions: Benign TdT+ precursor cells can occasionally be found in reactive lymphadenopathies. These cells may sometimes coexpress CD10 or CD34. Recognizing this pattern is important, as it helps avoid mistaking these benign cells for lymphoblastic lymphoma or leukemia.

Objective: Collagenous colitis (CC) is a microscopic colitis marked by chronic watery diarrhea, normal endoscopy, and a thickened subepithelial collagen layer. Here, we describe endoscopically apparent variants, including a nodular pattern.

Methods: We retrospectively reviewed 201 CC cases diagnosed at Beth Israel Deaconess Hospital. Endoscopic findings were classified as normal, subtly abnormal, or nodular CC (NCC). Clinical features, medication exposures, and histology were recorded and analyzed.

Results: Endoscopic abnormalities were seen in 26 of 201 (12.9%) cases: 16 with subtle changes and 10 with nodular mucosa (NCC). The remaining 175 (87.1%) cases had normal endoscopic findings. Statistically, clinical, histologic, and treatment features did not differ significantly (P > .05) between groups, though trends included (1) Paneth cell metaplasia being more frequent in endoscopically apparent CC (26.9%) vs normal CC (11.1%); (2) celiac disease being more common in NCC (30%) than in other groups (<6.5%); and (3) angiotensin receptor blocker use was more frequent in NCC (20%) than in other groups (<6.5%). Both subtle and nodular changes often persisted on follow-up colonoscopies, despite clinical remission.

Conclusions: Endoscopically apparent CC, including NCC, may persist but should not exclude the diagnosis when clinical, histologic, and treatment features remain similar to normal CC.