Diagnostic Histopathology最新文献

Columnar cell lesions (CCLs) are clonal alterations of the terminal duct lobular unit (TDLU) characterised by enlarged, variably dilated acini lined by columnar epithelial cells. They encompass a spectrum of morphological changes ranging from columnar cell change to columnar cell hyperplasia with or without atypia. With the increasing uptake of the breast cancer screening programme and wider use of mammography, more and more of these lesions are identified with associated calcifications, leading to an increasing number of biopsies being obtained that show these changes. In this review, we describe the historic concepts behind the evolution of the terminology of CCLs, and give an update on the diagnostic criteria, immunohistochemistry, and molecular genetics of these lesions. Their relation to breast carcinoma and current management strategies are also discussed. With the relatively recent classification scheme for these lesions, the recognition and study of CCLs is more standardised, and the role of these lesions as potential breast cancer risk factors will become more evident.

Inflammatory mucocutaneous conditions that affect the oral cavity are wide ranging with overlapping clinical and histological features. Clinically these can present with a range of appearances including lace to plaque like patches to erosive and ulcerative conditions. Many of these conditions are associated with systemic affects including gastrointestinal, ocular and dermatological. Early recognition is essential to ensure optimal patient care and appropriate referral to other specialists. This review will concentrate on lichenoid mucositis including lichen planus and erythema multiforme, the vesiculo-bullous conditions pemphigus and pemphigoid and the more common granulomatous conditions that present in the oral cavity.

A 64-year-old patient presented with a tumour of the orbit. A biopsy showed an infiltrative tumour with coarse “salt-and-pepper” chromatin, showing strong expression of AE1/3, CD56, synaptophysin, chromogranin, and CDX2 on immunohistochemistry. The Ki67 proliferation index was low (<1%). The diagnosis of metastatic neuroendocrine tumour, most likely of gastrointestinal origin was favoured over a primary neuroendocrine tumour of the orbit.

The number and range of tumour types that present in the sinonasal tract is staggering. The most recent WHO classification of head and neck tumours (5^th edition) attempts to simplify the issue by focusing on tumours that typically present in this anatomical site (with exclusion of lesions occuring elsewhere in the body). Even then, there are 24 discrete entities described; many of which have sub-variants and well documented histological pitfalls. In this mini-symposium we demonstrate 3 challenging cases from our routine practice that have required consideration of a broad range of entities in the differential diagnosis. The article is laid out in 3 sections covering undifferentiated malignancies, spindle cell lesions and tumours with divergent differentiation respectively. Sinonasal tumours may show considerable histological overlap between entities, and this is illustrated by the fact that many entities described in this article fall into more than one of the categories and some are even present in all three. In each section we recommend a methodical approach with careful consideration of the histological features in combination with appropriate ancillary studies in order to render as accurate a diagnosis as possible.

Fibro-osseous lesions of the jaws can be a challenging area of head and neck pathology due to significant overlap in histological appearance, requiring careful clinico-pathological correlation. In this review we aim to outline the fibro-osseous lesions which can present in the head and neck region, including; fibrous dysplasia, cemento-osseous dysplasia, juvenile trabecular ossifying fibroma, psammomatoid ossifying fibroma and cemento-ossifying fibroma. The clinical presentation, radiological appearance, histopathological features and differential diagnoses for each lesion will be discussed.

This review aims to update the readers on the expanding field of undifferentiated epithelial and neuroepithelial/neuroendocrine tumours of the sinonasal tract. Many of these tumours have similar cytomorphology and can be challenging when presented as a small biopsy. Judicious use of immunohistochemistry and next generation sequencing will determine the correct diagnosis and appropriate management.

Carvajal syndrome (MIM605676) is a cardiocutaneous disease with non-epidermolytic palmoplantar keratosis (PPK), hair anomalies (woolly hair or hypotrichosis) and dilated cardiomyopathy (DCM). Autosomal recessive inherited mutations in the desmoplakin (DSP) gene are causative for this disorder. Cardiac involvement may lead to heart failure and sudden cardiac death. Since this may require pacemaker and heart transplantation, early diagnosis and cardiologic screening is of great importance. We present a diagnostic case with typical but also hidden symptoms of Carvajal syndrome and its clinical follow up. A skin biopsy showed hyperkeratosis, acanthosis and “acantholysis of the desmosomal-type” as defined by hypereosinophilic epidermal keratinocytes, widening of the intercellular spaces and partial loss of the intercellular bridges in the suprabasal layers. Vesiculation, blistering, crusting and stronger inflammation were absent. We would like to point out the importance of a diagnostic skin biopsy and discuss the histologic differential diagnoses of acantholysis of the desmosomal-type.

Although rare, cancer of the vulva and penis have significant morbidity, mortality, and potentially psychologically distressing treatments. At both sites, squamous cell carcinoma (SCC) is the most common tumor type. Transitioning from classification systems reliant on histomorphology, two pathways of carcinogenesis are recognized in genital SCC based on human papillomavirus (HPV) infection status: HPV-associated and HPV-independent. Each pathway has unique etiology, pathology, molecular findings, and prognostic differences with clinically relevant outcomes. As more research comes to light, especially in vulvar pathology, a third potential pathway is emerging of HPV-independent, p53-wild type precursors and SCC. To familiarize pathologists with this group of diseases, we present an overview of HPV-associated and HPV-independent precursor lesions, as well as SCC, in both the vulva and penis.

The conjunctiva is a thin mucous membrane covering the anterior portion of the eye. Similar to the skin, the conjunctiva has normal resident melanocytes along the basal layer of the epithelium and these cells can give rise to melanocytic neoplasms of the conjunctiva. A variety of pigmented tumors can involve the conjunctiva, ranging from benign to malignant. Given the sensitive anatomic location and potential for some conjunctival melanocytic lesions to progress to melanoma, timely clinical recognition and correct histologic diagnosis of these tumors are essential in order to initiate the appropriate treatment and optimize outcomes. Clinicopathologic correlation is a vital step in this process. In this review article, the authors aim to provide an up-to-date concise, yet detailed, summary of the clinical, histopathologic, and molecular findings as well as a brief mention of management options for each type of conjunctival melanocytic lesion that may be encountered by pathologists and dermatopathologists.

Clear cell sarcoma of soft tissue is a rare aggressive soft tissue malignancy primarily affecting the extremities of young adults and is characterised by an EWSR1::ATF1 fusion gene. The tumour has a high rate of local recurrence and metastasis and as such often has a poor prognosis.