Acta Cytologica最新文献

Background: Familial neoplastic syndromes are distinguished by the presence of specific neoplasms which serve as critical indicators for their suspicion and diagnosis. Among these, only a limited subset includes tumors with distinctive oncocytic features, highlights the necessity for pathologists and clinicians to pursue further investigation in affected patients and their families.

Summary: Advances in genetic research and diagnostic pathology have highlighted the germline predispositions underlying these tumors, which manifest across multiple organ systems, including thyroid, parathyroid, renal, and adrenal glands. This review examines the clinical, pathological, and molecular features of oncocytic neoplasms in the context of hereditary syndromes such as Carney complex, Li-Fraumeni syndrome, DICER1 syndrome, Birt-Hogg-Dubé syndrome, hyperparathyroidism-jaw tumor syndrome, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis syndrome, Beckwith-Wiedemann syndrome, and SDH-deficient hereditary paraganglioma/pheochromocytoma syndrome. It emphasizes the importance of recognizing syndromic associations through histopathological clues, genetic testing, and family history to facilitate accurate diagnosis and tailored management.

Key message: By integrating clinical insights with molecular data, this paper sheds light on the mechanisms driving oncocytic transformation and underscores the role of pathologists in identifying hereditary cancer syndromes.

Background: Oncocytic differentiation in pancreatic neoplasms is uncommon but can be seen in a wide range of neoplasms which range from borderline to highly aggressive behavior. Certain tumors, such as intraductal oncocytic papillary neoplasm (IOPN) of the pancreas, are oncocytic by default but many, such as pancreatic neuroendocrine tumors (PanNETs), can be oncocytic in a rare subset, often with clinical significance (like aggressive behavior). As such, the differential diagnosis can be broad and expertise is critical in teasing out the true diagnosis to guide treatment.

Summary: The differential diagnosis of an oncocytic neoplasm in the pancreas includes IOPN, acinar cell carcinoma, pancreatic ductal adenocarcinoma, PanNET, solid pseudopapillary neoplasms, and an array of other tumors (including metastatic disease). As the differential diagnosis is broad and diagnostic biopsies are often small, delineating these entities often requires examination of the clinical features, cytology, and immunohistochemistry, with molecular findings being useful in particularly difficult cases.

Key messages: Corroboration between clinical/radiology findings, cytologic features, histologic features, immunohistologic results, and molecular abnormalities is all extremely useful in delineating a specific entity among the broad differential diagnosis of entities with oncocytic differentiation in the pancreas.

Introduction: This study critically evaluates adherence to Pap test screening practices in cytology-based cervical cancer screening in the state of Amazonas over a 10-year period.

Materials and methods: A retrospective analysis was conducted of the results of cytological screening examinations (Pap test) in Amazonas State from 2013 to 2023. For this purpose, Brazilian public databases Cervical Cancer Information System (SISCOLO) and Cancer Information System (SISCAN) (from the Department of Information and IT of the Unified Health System [DATASUS]) were consulted.

Results: There was a decrease in the number of Pap tests performed during the period from 2019 to 2021, likely related to the COVID-19 pandemic. This was followed by a subsequent increase in the post-pandemic period. Notably, in municipalities with fewer than 10,000 annual Pap examinations there was a decrease in the average number of tests when comparing the years 2016-2018 to 2013-2015, and an even greater decrease during the pandemic.

Conclusions: There is considerable variation in utilization of the cytological Pap test across different municipalities. This lack of uniformity throughout the state likely compromises the capacity to detect early stage cervical intraepithelial lesions.

Introduction: Around 85% of non-small cell lung cancers (NSCLCs) are diagnosed at an advanced stage (IIIB to IV), where therapeutic options depend on molecular analysis. However, diagnostic material for molecular testing is often represented by cytological samples which are generally scarce and span a wide range of preparation types. Thus, the primary objective is to efficiently manage materials for molecular profiling. This study aims to evaluate the suitability of different cytological samples to assess morphological and molecular characteristics of advanced NSCLC.

Methods: Sixty-seven cytological samples obtained from patients with advanced NSCLC were utilized. The series encompassed different procedure types (fine-needle aspiration cytology, transbronchial needle aspiration, effusions) processed by cell blocks in 54% (n = 36), direct smears in 33% (n = 22), and liquid-based cytology (LBC) in 13% (n = 9). Cytological diagnoses were routinely performed, and molecular analysis was conducted using next-generation sequencing (NGS) and real-time polymerase chain reaction (RT-PCR) methods.

Results: Adequate quantity and quality of nucleic acids were obtained from all the samples, allowing molecular profiling. Combined NGS and RT-PCR analysis showed wild-type profiles in 62.7% (n = 42) and mutated profiles in 37.3% (n = 25) of the samples. Kirsten Rat Sarcoma Virus (KRAS) mutations were identified in 19.5% (n = 13) of samples, EGFR mutations in 10.4% (n = 7) and v-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in 2.9% (n = 2). Identified chromosomal alterations were v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2) duplication in 2.9% (n = 2).

Conclusions: The cytological sample types examined in this study proved to be suitable for molecular testing, in addition to conventional morphologic diagnosis, showing versatility and adaptability to different clinical contexts. Molecular testing on cytological samples is accurate and fast, representing a valid tool for molecular profiling of advanced NSCLC.

Introduction: Fallopian tube (FT) cytology is an evolving and as yet not well-established field. Through this study, we aimed to establish the utility of FT brush cytology by stratification into cytological diagnostic categories.

Methods: Cytological specimens were collected using an endobrush from the fimbrial end of the tubes at the time of gynaecological surgeries, and LBC preparation (liquid-based cytology slides prepared by SurePath technique) and cell blocks were prepared. Smears were stratified into unsatisfactory/non-diagnostic (ND), benign, atypical, suspicious of malignancy (SOM), and malignant. Correlation with histopathology was done, and the risk of malignancy (ROM) was calculated for each category. Negative predictive value (NPV) and positive predictive value (PPV) were calculated. Diagnostic accuracy was calculated.

Results: A total of 392 tubal cytology specimens of 225 patients were collected. 8.2% (n = 32) of the specimens were unsatisfactory/ND, 87% (n = 343) were benign, 2.6% (n = 10) were atypical, 0.8% (n = 3) were SOM, and 1% (n = 4) were malignant. All the cases in the SOM and malignant categories were serous carcinomas on histopathology. Of the ten atypical cases, all were non-malignant on histopathology: two were serous tubal intraepithelial lesions and negative for serous tubal intraepithelial carcinoma (STIC), four showed salpingitis, and four showed normal histology. ROM for ND, benign, and atypical categories was 0%. ROM for the malignant category, as well as the SOM category, was 100%. NPV for the benign category, as well as the benign and atypical categories, was 100%. PPV for the malignant category, as well as the malignant and SOM categories, was 100%. Cell blocks were prepared for all cases, and the grey zone categories of atypical and SOM were reduced from 13 to 8. The diagnostic accuracy was 91.3% without and 99.4% with consideration of the ND category.

Conclusion: FT brush cytology shows excellent concordance with the follow-up histopathology in all categories, barring the ND category. Excellent concordance with histopathology was seen in cases of the benign category, which comprised the majority of the samples (87.5%). Although excellent concordance was also seen in the other categories with the final histopathology, the number of samples in these categories was less for a definite conclusion. Cell block preparation, though useful, especially in the grey zone categories, did not offer statistically significant results. Another important finding was that not even a single case of incidental STIC was found. This finding raises questions on the accepted current routine practice of preventive salpingectomy for all in the correct setting.

Background: The thyroid gland is a treasure trove of pathology ranging from the benign to the overtly malignant. Both neoplastic and nonneoplastic thyroid lesions can exhibit oncocytic change. Here we present an overview of cytologic and histopathologic findings encountered in these oncocytic neoplasms with a focus on the molecular aspects that drive their tumorigenesis.

Summary: Oncocytic change is unique to a subset of thyroid lesions ranging from nonneoplastic nodular hyperplasia to high-grade malignancy. It can also be encountered in non-follicular-derived neoplasms as well as in the adjacent parathyroid glands. At the genetic level, these lesions demonstrate a different genetic signature from classic follicular-derived lesions, often involving alterations of mitochondrial genes.

Key messages: Oncocytic change can be seen in nonneoplastic and neoplastic thyroid pathology. Rarely, oncocytic change can be seen in medullary thyroid carcinoma and certain subtypes of papillary thyroid carcinoma as well as the parathyroid gland. Oncocytic neoplasms of the thyroid harbor molecular alterations often involving mitochondrial genes, which is distinct from other thyroid neoplasia.

Background: We review the pathological, cytopathological, and molecular features centered on renal oncocytoma and its differential diagnosis. The recent expansion of entities under the category of renal tumors with oncocytic or eosinophilic cytoplasm has important implications on how cytologic diagnosis is clinically considered.

Summary: In this first of two parts, we discussed the pathological spectrum of oncocytic or eosinophilic tumors of the kidney that includes oncocytoma; chromophobe renal cell carcinoma (ChRCC) - including its eosinophilic variant (eosinophilic ChRCC); hybrid oncocytic/chromophobe tumors, either sporadic or syndromic; oncocytic papillary RCC, acquired cystic disease-associated RCC; succinate dehydrogenase (SDH)-deficient RCC; and eosinophilic solid and cystic (ESC) RCC. We describe the histomorphological and immunohistochemical features of these tumors, including the newly accepted entities, and focus on the molecular alterations reported. A practical approach for differential diagnosis and broader correlation to available cytologic findings are provided, with more in-depth cytologic descriptions for oncocytoma and eosinophilic ChRCC included in part 2 of this review. Most of the oncocytic tumors have an indolent behavior, although few aggressive cases have been reported in patients with ESC RCC, eosinophilic vacuolated tumor, and SDH-deficient RCC.

Key messages: In this era where surveillance management for low-grade oncocytic renal tumors is considered, precise diagnosis is important as it will have an impact on their subsequent management. Further, accurate diagnosis is important especially in renal tumors associated with hereditary neoplasms for monitoring and genetic counseling for their family members.

Introduction: The use of cytological specimens in cancer genome medicine has garnered considerable attention, but the long-term quality of nucleic acids from unstained specimens remains unclear. This study aimed to evaluate the quality of nucleic acids extracted from unstained specimens fixed with 95% ethanol or spray fixation over varying durations.

Methods: Two lung cancer cell lines were prepared using the auto-smear method and fixed with 95% ethanol, and spray-fixed specimens were stored for 30 min, 1 day, 3 days, 1 week, 2 weeks, 1 month, 3 months, and 6 months. DNA was extracted using a DNA extraction kit, and quality was assessed using agarose gel electrophoresis and PCR.

Results: Nucleic acids extracted from unstained specimens showed no fragmentation after 6 months of fixation and were amplifiable by PCR, regardless of the fixation method.

Conclusion: Nucleic acids extracted from unstained specimens preserved high quality over 6 months, suggesting that such specimens are suitable for genetic testing. This finding has significant implications for the long-term storage and clinical application of cytological specimens in cancer genome medicine.