Archives of pathology & laboratory medicine最新文献

Context.—: A clinic was created for patients to review their explanted organs with a pathologist.

Objective.—: To prospectively investigate the benefits of this type of clinic as perceived by both transplant patients and their pathologists.

Design.—: In this prospective study, patients participated in a videotaped viewing of heart and/or lung explants by the patient and their guest(s) and pathologist (December 2017-August 2022). Patients received a 3D-printed replica of their explant. After viewing the explanted organ, patients and their guests participated in an interview to assess their experiences. Video-reflexive ethnography was used by pathologists for data collection and practice improvement.

Results.—: Of 143 patients who viewed their explanted organ, 21 patients consented to having the organ-viewing session taped and to participate in a postviewing interview. The study group was comprised of 12 men; the median age was 57.5 years (range, 29-67 years). Five pathologists took part in reflexive sessions. The clinics were viewed positively by patients, providing an opportunity to better understand their disease. Pathologists had a similarly positive experience and gained important insights to patient journeys. Proposals for improvement were brought forward from both patients and pathologists.

Conclusions.—: Video-reflexive ethnography provided the opportunity for patients and pathologists to reflect on patient-pathology clinic appointments. This work serves as a template to build out pathology-based clinics.

Context.—: Patients can now immediately review pathology reports via online health portals.

Objective.—: To better characterize patient perceptions of pathology report helpfulness and preferences for access of pathology reports via a patient portal.

Design.—: Semistructured interviews were conducted with oncology patients with breast, endocrine, gastrointestinal, genitourinary, and thoracic malignancies. Patient demographic information, cancer type, question responses, and thematically grouped comments were statistically analyzed.

Results.—: Among 230 patients, there was equal sex distribution (116 of 230, 50.4% female; 114 of 230, 49.6% male). Patients who viewed or had a support member view their reports in the portal (172 of 230; 74.8%) differed from those who did not (58 of 230; 25.2%) only in perception of helpfulness (P < .001) of the report. Difficulty understanding medical terminology was the most frequently cited challenge among both those who found the reports helpful (30 of 160; 18.75%) and not helpful (31 of 46; 67.4%). Most patients (196 of 230; 85.2%) preferred immediate release of results, even if the news was bad, whereas some (34 of 230; 14.7%) would opt out of immediate release for fear of misunderstanding (11 of 34; 32.4%) or receiving distressing information from reading the report (23 of 34; 67.6%).

Conclusions.—: Options for portal flexibility (ie, patient choice of opting for immediate release of some, but not all, results), patient-centered pathology reports, educational materials, clinician preparation of patients, and tailored patient support are strategies that can help more patients benefit from reviewing pathology report information.

Context.—: Precise determination of biomarker status is necessary for clinical trial enrollment and endpoint analyses, as well as for optimal treatment determination in real-world practice. However, variabilities may be introduced into this process due to the processing of clinical specimens by different laboratories and assessment by distinct pathologists. Machine learning tools have the potential to minimize inconsistencies, although their use is not presently widespread.

Objective.—: To assess the applicability of machine learning to the quality control process for biomarker scoring in oncology, we developed and validated an automated machine learning model to be applied as a quality control tool for monitoring the assessment of human epidermal growth factor-2 (HER2).

Design.—: The model was trained using whole slide images from multiple sources to quantify HER2 expression and measure immunohistochemistry stain intensity, tumor area, and the presence of artifacts or ductal carcinoma in situ across breast cancer phenotypes. The quality control tool was deployed in a real-world cohort of HER2-stained breast cancer sample images collected from routine diagnostic practice to evaluate trends in HER2 testing quality indicators and between pathology laboratories.

Results.—: Automated image analysis for HER2 scoring is consistent and reliable using this algorithm. Deployment of the HER2 quality control tool across 3 clinical laboratories revealed interlaboratory variability in HER2 scoring and inconsistencies in data reporting.

Conclusions.—: These results support the future incorporation of quality control algorithms for real-time monitoring of clinical laboratories contributing to clinical trials in oncology and in the real-world setting of HER2 immunohistochemistry testing in local clinical laboratories and hospitals.

Context.—: A correlation between the morphology of ovarian high-grade serous carcinomas (HGSOCs) and BRCA mutations has been previously reported.

Objective.—: To investigate, beyond BRCA, the association between the morphology of HGSOC and the presence of homologous recombination deficiency (HRD).

Design.—: We reviewed 522 of 806 cases of HGSOC from the PAOLA-1 clinical trial, including 163 cases with tumor BRCA mutation, 345 cases without tumor BRCA mutation, and 14 cases with inconclusive BRCA tests. Regarding HRD status (myChoice HRD Plus assay), 269 cases (52%) were positive (HRD+), 198 (38%) negative (HRD-), and 55 (10%) inconclusive. Morphologic analysis included tumor architecture (with more than 25% of solid, pseudoendometrioid, and transitional patterns defining a SET architecture), tumor-infiltrating intraepithelial lymphocytes (ieTILs), and tumor stromal lymphocytes (sTILs).

Results.—: SET architecture (51% versus 40%, P = .02), high number of ieTILs (16% versus 8%, P = .007), and more than 10% of sTILs (27% versus 18%, P = .02) were associated with tumor BRCA mutation, mostly for tumors with a BRCA1 mutation. These criteria were also associated with HRD status: 54% versus 33% (P < .001) for SET architecture, 14% versus 6% (P = .008) for high number of ieTILs, and 27% versus 15% (P = .003) for more than 10% of sTILs. SET architecture was also significantly associated with HRD+ tumors without tumor BRCA mutation (P < .001) when compared with HRD- tumors. The combination of these 3 criteria showed high specificity (0.99; 95% CI, 0.97-0.99) but low sensitivity (0.07; 95% CI, 0.04-0.10).

Conclusions.—: The morphology of HGSOC correlates with HRD status and BRCA status but cannot substitute for molecular analysis in daily practice.

Context.—: Atypical apocrine adenosis (AAA) is a rare breast lesion defined as presence of cytologic atypia in apocrine adenosis. World Health Organization Classification of Tumours, 5th edition, defines cytologic atypia as at least 3-fold variation in nuclear size and prominent nucleoli. Currently, owing to the rarity of the lesion, the clinical behavior of AAA is not well understood.

Objective.—: To further investigate the risk of upgrade to malignant histology on follow-up excision after a diagnosis of isolated atypical apocrine adenosis (iAAA) on core needle biopsy (CNB).

Design.—: We identified 22 female patients with diagnosis of iAAA on CNBs across 3 institutions between 2000 and 2024, with an average age of 58 years. The most common indication for CNB was presence of a mass. We reviewed pathology reports and available histology slides of CNBs and subsequent surgical excisions.

Results.—: Of 22 patients, 17 underwent surgical excision and 5 were followed up with mammogram for an average of 38 months. The diagnosis for 2 of 17 patients (12%) who underwent excision was upgraded to malignancy (ductal carcinoma in situ), 3 had atypical ductal hyperplasia (1 with AAA), and 2 additional patients had residual iAAA. iAAA was the target lesion in 7 of 21 cases (33%). Among these 7 cases, 5 patients presented with a mass; 2 of 5 (40%) were upgraded to DCIS and 1 of 5 had residual iAAA. The 5 patients who were followed up did not have any adverse outcomes.

Conclusions.—: We recommend surgical excision of iAAA when found on CNB, especially when the target lesion is a mass. However, larger studies are necessary to further understand this entity.

Context.—: Lymphangioleiomyomatosis is a rare multisystem disorder belonging to the family of neoplasms exhibiting perivascular epithelioid differentiation. It primarily affects women of childbearing age. The disease is characterized by a proliferation of smooth muscle-like cells (lymphangioleiomyomatosis cells) within all lung compartments, leading to cystic parenchymal destruction and, in some cases, respiratory failure. These cells carry mutations in one or both tuberous sclerosis (TSC) genes and coexpress smooth muscle and melanocytic markers. Female hormones, particularly estrogens, influence the course of the disease. Symptoms of lymphangioleiomyomatosis vary significantly among patients, ranging from exertional dyspnea and coughing to chest pain and recurrent pneumothorax.

Objective.—: To present the latest advancements in the understanding of disease pathogenesis and diagnosis, illustrate the pathologic and radiologic findings, provide a reference for pathologists and other health care professionals, briefly discuss recent evidence-based therapeutic approaches, and emphasize the importance of adopting a multidisciplinary approach to diagnosis and optimization of patient care.

Data sources.—: A comprehensive review of pertinent medical literature published in the last 30 years, focusing on publications written in the English language, was performed.

Conclusions.—: Despite the recent significant advancements in the understanding and management of lymphangioleiomyomatosis, there are still significant gaps in our knowledge of its pathophysiology and the role of the immune system in the genesis and progression of the disease. The current changes in diagnostic algorithms favor the adoption of minimally invasive procedures as the standard of care. As a result, the clinical laboratory will play a larger role in the diagnosis of lymphangioleiomyomatosis, and surgical pathologists will likely be less involved in the diagnosis of pulmonary lymphangioleiomyomatosis than they currently are.

Context.—: Quality communication between clinicians and pathologists is required for optimal cancer care. The College of American Pathologists provides anatomic site-specific cancer protocols that facilitate synoptic reporting for efficient communication, contributing to accuracy and completeness of cancer staging.

Objective.—: To evaluate synoptic cancer pathology reporting across the Department of Veterans Affairs (VA), the largest integrated health system in the United States, for 4 common cancers: melanoma and colon, bladder, and kidney cancer.

Design.—: For each cancer type, we investigated at least 200 biopsy and 200 resection reports from 2019 to 2021. In each report, we determined whether a synoptic format was used. The reports were selected using random sampling across all VA health care facilities. We also identified a set of core elements that were underdocumented.

Results.—: Among 1618 pathology reports, 778 (48%; 95% CI, 46%-50%) were synoptic reports. Synoptic reporting was much more common among resections (621 of 811; 77%; 95% CI, 74%-79%) than among biopsies (157 of 807; 19%; 95% CI, 17%-22%). It was most common in colorectal resections (200 of 206; 97%; 95% CI, 94%-99%) and least common in colon biopsy reports (1 of 200; 0.5%; 95% CI, 0%-3%). Core elements that were underdocumented included procedure and regional lymph nodes for resections of bladder and kidney cancer and of melanoma.

Conclusions.—: Synoptic reporting was used about three-quarters of the time for resections and about 1 in 5 times for biopsies. Future work should develop implementation strategies to improve synoptic reporting, especially for biopsy specimens and core elements that were relatively underdocumented.

Context.—: Blasts in myelodysplastic syndromes (MDSs) typically have a primitive myeloid immunophenotype (CD34+CD117+CD13+CD33+HLA-DR+). On rare occasions, blasts were found to be CD34 negative or minimally expressed in a presumptive MDS.

Objective.—: To investigate the occurrence of these cases, and to examine any unique molecular genetic features, and clinical relevance.

Design.—: More than 2000 flow cytometry immunophenotyping tests for MDS performed during a 5-year period were retrospectively reviewed. Chronic myelomonocytic leukemia and overt acute myeloid leukemia (AML) (≥20% blasts) were excluded.

Results.—: Approximately 800 cases had abnormal myeloblasts consistent with myeloid neoplasms; 96% of cases showed a typical primitive phenotype, but 31 patients (4%) had unusual blasts that were either completely or partially negative for CD34. Of the latter, recurrent genetic abnormalities were identified in 13 (42%) including 10 with nucleophosmin 1 (NPM1) mutation, 1 with lysine methyltransferase 2A (KMT2A) rearrangement, and 2 with t(3;5)(q25.3;q35.1)/NPM1::myeloid leukemia factor 1 (MLF1). These cases were classified as MDS prior to the 2022 classifications, but 9 of 13 (69%) and 7 of 13 (54%) cases would be reclassified as AML according to the 5th edition of the World Health Organization classification and the International Consensus Classification, respectively. Eight cases (26%) had multihit tumor protein p53 (TP53) mutation, and 6 of them were ultimately diagnosed as or quickly evolved to pure erythroid leukemia. Of the remaining 10 cases, 4 uncharacteristically had no detectable molecular genetic abnormalities.

Conclusions.—: Our data show that if a presumptive MDS shows a nonprimitive blast phenotype, caution is needed to rule out AML with recurrent genetic abnormality with an oligoblastic presentation, high-risk myeloid neoplasms with double-hit TP53 mutation with abnormal erythroid proliferation, and MDS with molecular-genetic and clinical features more akin to AML.

Context.—: Small biopsies are used for histologic, immunophenotypic, cytogenetic, molecular genetic, and other ancillary studies. Occasionally, this diagnostic tissue is exhausted before molecular testing can be performed.

Objective.—: To investigate a simple banking protocol for currently discarded tissues trimmed off prior to the initial hematoxylin-eosin section, as an alternative source of DNA for molecular studies.

Design.—: Mock biopsies of lung adenocarcinomas, benign testes, and B-cell lymphomas were constructed from biobank blocks; these simulated biopsies were assessed via epidermal growth factor receptor (EGFR) p.L858R droplet digital polymerase chain reaction (PCR), Biomed B-cell clonality testing by PCR, or a custom next-generation sequencing panel for lymphomas. For each cancer mock biopsy, DNA amounts and molecular test results from the "trimmings" samples were compared to data from corresponding molecular samples acquired via a "standard" clinical protocol.

Results.—: The data show that although trimmings samples usually contained less DNA than standard samples, both sample classes generally had sufficient DNA for testing and produced essentially identical molecular results. A single sample showed low-level carryover contamination on droplet digital PCR testing.

Conclusions.—: Tissue trimmings banked by using the studied protocol demonstrated value as a potential alternative sample for molecular testing.

Context.—: Opportunities to improve transfusion safety occur at lower hemoglobin (Hgb) thresholds and single-unit transfusions. Efforts to improve compliance with transfusion guidelines and single-unit transfusion practices reduce transfusions and lead to improved outcomes.

Objective.—: To evaluate demographic and practice characteristics associated with lower Hgb thresholds and single red blood cell (RBC) unit transfusion practices.

Design.—: This study used the College of American Pathologists (CAP) Q-Probes format with the recent 2020 and 2017 surveys of participating institutions.

Results.—: High rates of transfusion review and compliance were observed with institutions reporting RBC transfusions meeting institutional guidelines. CAP inspection participants and those with a formal policy to encourage single-unit transfusions showed a trend toward greater compliance. Comparison of 2020 and 2017 survey results showed favorable downward trends in the Hgb threshold for transfusion compliance review and pretransfusion and posttransfusion Hgb values. Institutions reporting initiatives to decrease transfusions, teaching hospitals, and those with updated guidelines in alignment with recent literature reported lower pretransfusion Hgb levels in both studies. The 2020 study showed greater single-unit transfusion use among hospitals with patient blood management programs, larger institutions, and those training pathology residents. Single-unit transfusion rates varied by hospital service, with highest rates reported within hematology/oncology (99 of 138 [71.7%]), intensive care (147 of 215 [68.4%]), and medicine (419 of 666 [62.9%]) services.

Conclusions.—: Transfusion practice improvement programs to decrease RBC transfusions include the use of single-unit transfusions and lower institutional pretransfusion Hgb thresholds. Opportunities to lower transfusion thresholds and increase single-unit transfusions exist in surgical and obstetrics services.