Human Pathology Reports最新文献

Blastomycosis, caused by dimorphic fungi from the genus Blastomyces, is an endemic disease of the midwestern United States that typically presents as pulmonary disease mimicking community acquired pneumonia. Extrapulmonary blastomycosis occurs in up to 50% of cases and most commonly involves the skin. Genitourinary blastomycosis is a rare entity most often seen in disseminated systemic blastomycosis, and rarely as the presenting manifestation of blastomycosis. Here we describe a case report of a 78-year-old Midwestern man incidentally found to have a large kidney mass and multiple pulmonary nodules. Renal biopsy revealed multiple sites of granulomatous inflammation and budding yeast consistent with Blastomyces species. We present the patient’s clinical history, treatment regimen, and clinical course.

Background

Cemento-ossifying fibroma (COF) and focal cemento-osseous dysplasia (FCOD) are benign neoplasms occurring in the mandible and maxilla; histologically, they both show normal bone replacement by a fibrous stroma containing variable amounts of calcified fragments resembling bone and cementum. FCOD is relatively common and requires observation; COF is rare and its growth over time can lead to deformity in the head and neck region. Surgical removal of COF at an early stage is critical to prevent recurrence and deformity. Therefore, distinguishing COF from FCOD is important for proper further management.

Methods and Materials

To determine the parameters differentiating COF from FCOD, we retrospectively analyzed 15 COF cases and 27 FCOD cases reviewed between 2005 and 2020 at Temple University Hospital. Demographic, radiographic and histopathologic characteristics were compared by using Student’s t test for continuous variables and Chi-square test for categorical variables.

Results

In the non-histopathologic spectrum, COF occurred at a younger age (average age-31yo versus FCOD 43 yo). FCOD showed female predilection compared with COF. No significant difference was observed regarding location and radiographic density. However, COF was significantly associated with radiographic cortical expansion. In the histopathologic spectrum, FCOD was more frequently associated with significant intralesional hemorrhage, increased vascularity, osteoblastic rimming of trabeculae, and ginger roots –like bone trabeculae.

Discussion

We demonstrated 7 clinical, radiographic, and pathologic parameters that can help differentiate COF from FCOD. Comprehensive assessment of the distinguishing characteristics is valuable for accurate diagnosis and treatment of these two entities, aiding in minimizing unnecessary procedures for FCOD and averting facial deformities caused by COF.

A Japanese female in her 20 s with a history of self-induced vomiting was diagnosed with severe renal failure and referred to our department. She was extremely lean, with a body mass index of 9.6 kg/m². Computed tomography showed increased brightness of the entire renal parenchyma; renal biopsy demonstrated prominent calcium deposition in the Bowman’s capsule and tubulointerstitial areas accompanied by collapsed glomeruli, severe interstitial fibrosis and tubular atrophy. Although the diagnosis was nephrocalcinosis, no underlying conditions were found. Despite the management of chronic kidney disease-mineral bone disorder and nutritional therapy, the patient developed uremia and initiated maintenance hemodialysis approximately two years after the first visit. Kidney disorders are commonly observed in patients with eating disorders and may occasionally lead to end-stage kidney disease. However, detailed investigations are few, especially regarding the histopathological conditions of these patients, and the precise mechanisms remain unclear. Nephrocalcinosis can cause end-stage kidney disease if extensive, as observed in the present case.

Intraductal oncocytic papillary neoplasms (IOPN) are rare cystic pancreatic neoplasms marked by oncocytic cells and intricate papillary structures. While typically slow-growing, approximately one-third of IOPN cases are associated with invasive adenocarcinoma. In this report, we present an extremely rare case of invasive squamous cell carcinoma arising in the background of IOPN. A 74-year-old man underwent a central pancreatectomy due to an incidentally discovered cystic mass in the pancreatic body. Histological examination revealed IOPN with regions of invasive squamous cell carcinoma. Next-generation sequencing identified the characteristic ATP1B1::PRKACA fusion in both the IOPN and squamous cell carcinoma components. To the best of our knowledge, this is the first documented instance of invasive squamous cell carcinoma originating from an IOPN.

Microcystic stromal tumors (MCSTs) are rare ovarian stromal tumors. They harbor CTNNB1 or APC mutations, resulting in β-catenin nuclear expression. Morphologically, they characteristically consist of tumor cells with small round nuclei, inconspicuous nucleoli, moderate amount of eosinophilic or vacuolated cytoplasm. Cells can form solid nests and sheets, small or sometimes large cystic structures. Background stroma is often myxoid with foci of fibrosis. In addition to the nuclear β-catenin stain, the tumor cells are characteristically negative for inhibin and calretinin, but positive for CD10, CyclinD1, WT1 and FOXL2. To date, all MCST cases treated with oophorectomy or more extensive surgery have followed benign clinical courses. However, two of the four cases treated with ovarian cystectomy/tumor resection recurred in the residual ovary and local extraovarian involvement several years after ovarian cystectomy, which indicates MCST has the potential to recur and spread locally. This article is aimed to review the literature about MCST to summarize its morphology, immunophenotype, molecular alteration as well as clinical behavior.

Salivary gland neoplasms are rare and represent a diverse group of tumors. Fine-needle aspiration is a cost effective approach that has been widely applied in preoperative diagnosis of salivary gland lesions to guide clinical management. The wide diversity of entities, significant morphological overlap and limited cellularity make salivary gland cytology challenging. A cellular and architectural pattern-based approach can help narrow down the differential diagnoses. In the meantime, molecular understanding has resulted in a rapid expansion and redefining of salivary gland neoplasms. Herein, we reviewed salivary gland cytology which focused on four patterns: basaloid, oncocytic/oncocytoid, mucinous/cystic/secretory and spindle, along with updated immunohistochemical and molecular features.

This review summarizes changes and updates in the most recently published 2023 Bethesda System for Thyroid Cytopathology (TBSRTC). Further, the review focuses on challenges and pitfalls encountered in cytologic assessment of thyroid fine needle aspiration (FNA) specimens, with an emphasis on atypia of undetermined significance (TBSRTC category III) and the impact on risk of malignancy (ROM) among TBSRTC diagnostic categories following implementation of the terminology noninvasive follicular neoplasm with papillary-like nuclear features (NIFTP). The role of molecular testing as an adjunct to FNA cytology will be discussed.

Cytopathologists have assumed a progressively pivotal role in diagnosing lymphoproliferative disorders. This review outlines a concise approach to the work-up of suspected lymphoma in cytopathology practice, emphasizing the integration of cytomorphologic evaluation with ancillary studies. These include the application of rapid onsite evaluation (ROSE) for proper specimen triage, immunophenotyping through flow cytometry (FC) and immunohistochemistry (IHC), and molecular studies on cytology/small biopsy specimens. Furthermore, the review provides a brief introduction to the forthcoming WHO Reporting System in Lymph Node Cytopathology.

Pancreatic cystic lesions, frequently detected in abdominal imaging, pose diagnostic challenges due to their varying malignancy potential. This review article focuses on the crucial role of molecular diagnostics in differentiating these lesions, with an emphasis on the significance of KRAS and GNAS mutations identified through endoscopic ultrasound-guided fine needle aspiration (EUS-FNA). The use of next-generation sequencing (NGS) is highlighted for its precision in detecting genetic changes, crucial for accurate diagnosis and guiding management decisions.

Integration of molecular studies into standardized reporting for pancreaticobiliary cytopathology is also discussed, enhancing diagnostic accuracy. The potential of precision oncology, informed by molecular insights, is explored for targeted treatments of pancreatic cystic lesions.

Commercial platforms like PancreaSeq® Genomic Classifier and PancraGEN® are assessed for their effectiveness in analyzing pancreatic cystic fluid, proving beneficial in cases where traditional methods fall short.

In summary, molecular studies are indispensable in evaluating pancreatic cystic lesions, offering a pathway to more personalized treatment and management strategies in patient-centered care.

Serous fluids, encompassing pleural, pericardial, and peritoneal fluids, exhibit a wide spectrum of neoplastic and non-neoplastic conditions. Malignant effusions commonly result from metastasis, particularly from adenocarcinomas, and less frequently from primary malignant mesothelioma. Cytologic assessment of serous effusions remains an invaluable tool, especially with the expanding role of ancillary techniques available to resolve diagnostically challenging cases. The recently introduced International System for Reporting Serous Fluid Cytopathology (TIS) establishes a standardized reporting system with five distinct diagnostic categories: nondiagnostic (ND), negative for malignancy (NFM), atypia of undetermined significance (AUS), suspicious for malignancy (SFM), and malignant (MAL). Understanding the distribution of malignancy in serous fluids by site of origin in effusion cytology is important, especially in patients with an unknown primary. Immunohistochemistry (IHC) combined with clinical and radiologic data plays a crucial role in confirming malignancy, establishing the primary site, determining the stage, predicting prognosis, monitoring recurrence, and influencing medical management. This review aims to provide an overview of TIS reporting system, emphasizing its malignant category. It provides updates on the distribution of malignancies in serous fluids and discusses valuable IHC panels based on differential diagnosis, addressing challenging cases within this context.