Oral Histoplasmosis

Abstract

A 44-year-old female presented to her general dentist with the chief complaint of a painful mouth sore of 2 weeks duration. Clinical examination revealed an irregularly shaped ulcer of the buccal and lingual attached gingiva of the anterior mandible. A biopsy was performed and microscopic evaluation revealed histoplasmosis. Histoplasmosis, caused by Histoplasma capsulate, is the most common fungal infection in the United States. Oral lesions of histoplasmosis are generally associated with the disseminated form of histoplasmosis and may present as a fungating or ulcerative lesion of the oral mucosa. The histologic findings and differential diagnosis for oral histoplasmosis are discussed.

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Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives

Abstract

Adenoid cystic carcinoma (AdCC) is a malignant salivary gland tumor. To date, no cases of AdCC in first-degree relatives have been reported in the literature. We present a 50-year-old female (Case 1) and this patients' father (Case 2), both of whom were diagnosed with AdCC of the minor salivary glands. Histology of Case 1 demonstrated a tubulocribriform AdCC whereas Case 2 primarily was an AdCC of solid type. Both cases harbored the MYB–NFIB gene fusion as demonstrated by FISH and RNA-sequencing. After filtering and selection of putative deleterious variants, whole exome sequencing identified 18 germline variants in common between Case 1 and Case 2. However, none of the variants were associated with AdCC or other head and neck cancers. To our knowledge, we present the first potential case of familial AdCC. The presented genetic data may contribute to further investigations of the underlying genetic mechanisms for AdCC susceptibility.

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Giant Prolactinoma Presenting As a Base of Skull Tumor With Nasopharyngeal Extension: A Potential Diagnostic Pitfall in Neuroendocrine Lesions of the Base of Skull

Abstract

Pituitary adenomas presenting in uncommon anatomical locations are commonly misdiagnosed. Dramatic clinical presentation with hemorrhage and infarction, along with a lack of endocrine symptoms may further confound the diagnosis in some patients as illustrated in one of our two previously reported cases of non-small cell neuroendocrine carcinoma of the sinonasal tract and nasopharynx. This report presents the clinical progress of case number 2, which has a revised diagnosis of giant lactotroph pituitary adenoma. Common clinical, radiological and pathological pitfalls in diagnosis of neuroendocrine neoplasms of the sinonasal tract and base of skull are discussed.

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Ultrastructural Characterization of Mammary Analogue Secretory Carcinoma of the Salivary Glands: A Distinct Entity from Acinic Cell Carcinoma?

Abstract

Mammary analogue secretory carcinoma (MASC) of the salivary glands is a recently described neoplasm of the salivary glands with a characteristic morphology complemented by a specific cytogenetic translocation and gene rearrangements. Although immunophenotypic and cytogenetic differences allow for a more reliable distinction, ultrastructural features can also provide important information about the relationship between MASC, classic acinic cell carcinoma (AciCC), and AciCC intercalated duct cell-predominant variant. Following approval from the hospital's institutional review board, 7 cases of MASC, 8 cases of classic AciCC, and 4 cases of AciCC intercalated duct cell-predominant variant were retrieved from the pathology files of Massachusetts General Hospital from 2012 to 2015. Electron microscopy was performed using formalin-fixed, paraffin-embedded tissue. Ultrastructural features of all 19 neoplasms of the salivary glands were recorded. The predominant cell-types observed in MASC are those with intercalated/striated duct cell differentiation. These features include prominent invaginations of the cell surface studded with microvilli, and some intra- and intercellular lumina also with a microvillous surface. Classic AciCC dominant cell-type recapitulates acinar cell differentiation. These cells contain large intracytoplasmic zymogen-like granules. AciCC intercalated duct cell-predominant variant showed both cell populations in various proportions with the intercalated/striated duct cell type usually being the dominant one. MASC presents with distinctive ultrastructural features that allows its proper differentiation from classic AciCC. However, significant ultrastructural features overlaps between both AciCC intercalated duct cells-predominant and classic AciCC and MASC. These findings indicate a very close proximity between these tumors.

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Transcriptionally Active High-Risk Human Papillomavirus is Not a Common Etiologic Agent in the Malignant Transformation of Inverted Schneiderian Papillomas

Abstract

The role of human papillomavirus (HPV) as an etiologic and transformational agent in inverted Schneiderian papilloma (ISP) is unclear. Indeed, reported detection rates of HPV in ISPs range from 0 to 100%. The true incidence has been confounded by a tendency to conflate high- and low-risk HPV types and by the inability to discern biologically relevant from irrelevant HPV infections. The recent development of RNA in situ hybridization for high-risk HPV E6/E7 mRNA now allows the direct visualization of transcriptionally active high-risk HPV in ISP, providing an opportunity to more definitively assess its role in the development and progression of ISPs. We performed p16 immunohistochemistry and high-risk HPV RNA in situ hybridization on 30 benign ISPs, 7 ISPs with dysplasia, 16 ISPs with carcinomatous transformation, and 7 non-keratinizing squamous cell carcinomas (SCCs) with inverted growth that were unassociated with ISP. Transcriptionally active HPV was not detected in any of the 52 ISPs including those that had undergone carcinomatous transformation, but it was detected in two of seven (29%) non-keratinizing SCCs that showed inverted growth. There was a strong correlation between high-risk HPV RNA in situ hybridization and p16 immunohistochemistry (97%; p < 0.01). These results indicate that transcriptionally active high-risk HPV does not play a common role in either the development of ISP or in its transformation into carcinoma.

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Human Papillomavirus Associated Cancers of the Head and Neck: An Australian Perspective

Abstract

Human papillomavirus (HPV) associated head and neck squamous cell carcinomas (HNSCCs), have become a serious global health problem. Despite decreases in HPV-negative HNSCCs, the prevalence of HPV-positive HNSCCs has significantly increased. HPV-positive cancers are associated with superior survival outcomes when compared to HPV-negative cancers, which appears likely to be associated with differences in the molecular pathogenesis of the two diseases. While therapies are still problematic, the current HPV vaccine programs hold a promise for the primary prevention of HPV-related HNSCCs and since Australia was the first to introduce a nationwide HPV vaccine program, it is in a unique position to observe the effects of the vaccine on HNSCCs. This review discusses the epidemiological trends associated with HPV in HNSCC, with reference to the differences between HPV-positive and HPV-negative HNSCCs and the prevention potential of HPV vaccines.

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SMARCA4-deficient Sinonasal Carcinoma

Abstract

The term "sinonasal undifferentiated carcinoma (SNUC)" has been coined in 1986 for a highly aggressive sinonasal tract epithelial neoplasm showing distinctive morphology, but lacking any specific line of differentiation. Recent developments resulted in a dynamic splitting of new entities traditionally included in the spectrum of SNUC. Sinonasal NUT-midline carcinoma, adamantinoma-like Ewing family tumors and most recently, SMARCB1(INI1)-deficient sinonasal carcinoma are the main entities defined by specific genetic aberrations. To our knowledge, involvement of subunits of the SWItch/Sucrose Non-fermentable (SWI/SNF) chromatin remodeling complex other than SMARCB1 has not been implicated in the pathogenesis of SNUC-like neoplasms. We herein describe a 40-year-old woman who presented with a large infiltrative mass involving the right nasal cavity and the sinuses with extension into the skull base and periorbital tissue (cT4N2M0). Biopsies were interpreted initially as poorly differentiated neuroendocrine carcinoma followed by surgical resection and radiochemotherapy. No other extra-nasal tumor was detected on imaging. The patient was alive with disease at last follow-up (9 months from initial diagnosis). Histological evaluation showed poorly differentiated small round blue cell neoplasm with diffuse expression of pancytokeratin but not high molecular weight cytokeratin subsets, CK7, p63, S100, desmin or NUT. Neuroendocrine markers showed limited focal weak reactivity. SMARCB1, SMARCA2 and ARID1A were intact in the tumor cells but SMARCA4 was completely lost. This case highlights the rare occurrence of SMARCA4-deficiency in poorly differentiated sinonasal carcinomas and points to the importance of including other SWI/SNF complex subunits in the evaluation of SMARCB1-intact sinonasal malignancies.

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