Human Pathology Reports最新文献

The upcoming World Health Organization (WHO) Reporting System in Liver Cytopathology marks the first internationally applicable system for diverse medical infrastructure settings. This system categorizes cases into five groups: Insufficient/Inadequate/Nondiagnostic, Benign, Atypical, Suspicious for Malignancy, and Malignant. Each category is associated with a risk of malignancy (ROM), guiding recommendations for further diagnostic testing to achieve specific diagnoses or refine differential diagnoses and follow-up management. The primary goal is to enhance and standardize cytopathology reporting, improve communication between cytopathologists and clinicians, and ultimately elevate patient care. The online WHO System provides direct access to the WHO Classification for Tumours 5th Edition. This review delves into the latest classification guidelines, addresses terminology standardization, navigates diagnostic complexities, and aligns patient management options with cytopathological interpretations, contributing to an overall enhancement of patient care.

Malignant Brenner tumor (MBT) of the ovary is exceedingly rare, and studies of MBT have been limited to case reports and small case series. MBT shares similar clinical and radiological presentations with other ovarian epithelial malignancies, and the diagnosis of MBT is predominantly based on histopathologic evaluation. Recently, relatively large retrospective studies have advanced understanding of their histogenesis and malignant transformation, as well as on the clinical management of this rare subtype of ovarian carcinoma. In this article, we review the published English literature on MBT, with an emphasis on the histopathologic evaluation, molecular biology, and clinical management of MBT.

The World Health Organization (WHO) has recently introduced an international approach to standardize reporting of pancreaticobiliary cytopathology. The WHO Reporting system for Pancreaticobiliary Cytopathology (WHO system) introduces two distinct categories for non-invasive premalignant lesions of the ductal system, based on cytomorphological grading: “pancreatic neoplasm of low risk/grade” (PaN-low) and “pancreatic neoplasm of high risk/grade” (PaN-high). This reclassification aims to provide a more precise assessment of risks of malignancy (ROM) for different neoplastic categories. The WHO system focuses on the diagnostic categories, their associated ROM, and recommended management per category.

Pancreatic neoplasms comprise various histological types, each displaying distinct background features that can assist in the diagnostic process. Recognizing background features like mucin background, necrotic background, desmoplastic stroma, cancer-associated fibroblasts, and stromal fragments presents notable challenges. Certain background features may overlap across histological types.

In this review, we present a summary of the key updates in the WHO system and highlight diagnostic challenges associated with background features.

The mesenchymal tumors of the pancreas account for approximately 1–2% of all pancreatic neoplasms and they are not commonly encountered in our daily practice. When these rare entities are seen during endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) with rapid onsite evaluation (ROSE) or EUS-guided fine-needle biopsy (FNB) specimens sampled from the pancreas, it is usually difficult to establish a diagnosis solely based on cytohistology due to the significant overlapping cytomorphological features among these neoplasms. Ancillary studies including immunohistochemical stains and molecular testing are critical to reach the correct final diagnosis. Here, we reviewed the pancreatic mesenchymal neoplasms diagnosed with EUS-FNA cytology specimens or EUS-FNB small biopsy specimens. Gastrointestinal stromal tumors (GIST), solitary fibrous tumors (SFT), paraganglioma, perivascular epithelioid cell tumor (PEComa), and Granular cell tumor were discussed in detail each with a representative case from our practice collections. The characteristic cytohistological features and immunostaining markers for each entity are highlighted for differential diagnosis. In summary, cytopathologists need to be vigilant for these rare entities and perform necessary immunostaining to establish an accurate diagnosis.

With the increasing emphasis on early detection of lung carcinoma in clinical practice, the utilization of small biopsies including cytology specimens has become more prevalent and an integral part of the diagnostic process. While holding immense significance for patient care and decision-making, the accurate identification of lung carcinoma from these small biopsies poses challenges. There is a significant overlap in the characteristics among benign, reactive, and malignant processes. This is aggravated by the absence of distinguishing biomarkers. Preserving specimen material for additional cytogenetic and molecular testing has also gained prominence to enable targeted precision medicine.

The focus of our review is directed towards understanding the morphologic attributes and potential diagnostic mimickers associated with the most frequent types of lung carcinoma observed in small biopsies. Additionally, we emphasize the importance of proper immunohistochemical staining practices to preserve tissue for further molecular testing.

Several urine cytology classifications have been published in the literature. However, global acceptance in the field of urine cytology was only gained in 2016 after The Paris System for reporting urinary cytology was published. Despite this Paris System and its shifted focus toward the detection of high-grade urothelial carcinoma, the perceived weakness of low sensitivity and indeterminate diagnoses when screening with urine cytology remains unresolved. To overcome these shortcomings, investigators have studied a variety of emerging ancillary tests to augment urine cytology (UroVysion, ImmunoCyt/uCyte+, BTA-stat/TRAK, NMP22, SCD-A7, URO17, CellDetect, UroMark, UroSEEK). Furthermore, with the advent of digital cytology, the creation of artificial intelligence tools has created innovative opportunities to aid with urine cytology. This review article discusses the lessons learned in the evolution of reporting systems, explores the merit and challenges of ancillary tests, and calls attention to potential utility of applying artificial intelligence in urine cytology.

High-risk human papillomavirus (HR-HPV)-associated oropharyngeal squamous cell carcinoma (OPSCC) is a unique form of head and neck cancer with distinct biology and better prognosis than conventional SCC. Many patients with HR-HPV positive OPSCC initially present with metastases to lateral neck lymph nodes in levels II or III. Fine-needle aspiration (FNA) is routinely used to establish a diagnosis and evaluate HPV status at these sites. However, there is no consensus regarding the best testing methods for establishing HPV status in cytology specimens. The most common methods include p16 immunohistochemistry, HR-HPV in situ hybridization and molecular tests. This review summarizes the advantages and limitation of each method.

Autoimmune enterocolopathy (AIE) is an immune-mediated disease effecting the gastrointestinal tract that has been increasingly recognized in adults. Prior reports of adult-onset AIE, as well as published diagnostic criteria, emphasize the histopathologic findings in the small bowel to support the diagnosis. However, AIE is known to be a pan-enteric disease, and the initial histologic findings could be first encountered at non-small bowel sites. Here, we report a case of adult-onset AIE, where the initial histologic findings of AIE manifested in the colon as marked loss of goblet cells and prominent basal apoptoses. We review the differential diagnostic considerations, and discuss the subsequent clinical workup needed to evaluate for AIE if it is suspected on a colon biopsy. Additionally, a literature review was performed to determine the histopathologic characteristics of adult-onset AIE in the colon. Overall, the present case report, as well as findings from the literature review, suggest that AIE should enter the differential diagnosis in an adult patient with diarrhea when loss of goblet cells and prominent basal apoptoses are observed in a patient’s colon biopsy, especially when alternative etiologies are not supported by appropriate clinical context.

Blau syndrome is a rare, autosomal dominant or de novo mutation, granulomatous, auto-inflammatory disorder classically manifesting as a triad of polyarthritis, uveitis, and dermatitis. Rarely, this disease involves visceral sites such as the liver, lung, and kidney. In this report, we describe a case of a 13-year old female with Blau syndrome, with prior findings of polyarticular arthritis, uveitis, granulomatous sialadenitis of the right parotid gland, and positive NOD2 mutation testing, whose serum creatinine acutely rose despite being on anti-TNF-alpha therapy since age two. Kidney biopsy revealed granulomatous tubulointerstitial nephritis (TIN) and an immune complex (IC)-mediated glomerulonephritis attributed to Blau syndrome. We conducted a literature search to find all reported cases of Blau syndrome with biopsy findings of granulomatous renal involvement, finding ten other case reports. We assessed the likelihood of TIN and immune complex deposition, the drugs used to treat these patients, and the clinical outcomes. We found coexisting IC renal deposition rare, occurring in 2/11 patients including ours and renal involvement that was anti-TNF unresponsive was only present in our patient with a recorded renal treatment outcome.

A basal cell adenoma is a rare salivary gland tumor that usually occurs in the parotid gland, upper lip, palate, or sometimes the nasal septum. It rarely involves the submandibular gland. To the best of our knowledge, only 6 cases involving the submandibular gland have been described in the literature. We present a case of a 41-year-old female who presented with right submandibular swelling and was diagnosed as having a basal cell adenoma.