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Head and Neck Pathology

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https://www.readbyqxmd.com/read/28210977/genetic-characterization-of-adenoid-cystic-carcinoma-of-the-minor-salivary-glands-a-potential-familial-occurrence-in-first-degree-relatives
#1
Hani Ibrahim Channir, Thomas van Overeem Hansen, Simon Andreasen, Christina Westmose Yde, Katalin Kiss, Birgitte Wittenborg Charabi
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...
February 16, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28197925/giant-prolactinoma-presenting-as-a-base-of-skull-tumor-with-nasopharyngeal-extension-a-potential-diagnostic-pitfall-in-neuroendocrine-lesions-of-the-base-of-skull
#2
Amy Prawira, Dorothy Lazinski, Lillian L Siu, Bayardo Perez-Ordonez
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...
February 14, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28194567/ultrastructural-characterization-of-mammary-analogue-secretory-carcinoma-of-the-salivary-glands-a-distinct-entity-from-acinic-cell-carcinoma
#3
Julie Guilmette, Gunnlaugur P Nielsen, William C Faquin, Martin Selig, Vânia Nosé, Anthony W S Chi, Peter M Sadow
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...
February 13, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28181187/transcriptionally-active-high-risk-human-papillomavirus-is-not-a-common-etiologic-agent-in-the-malignant-transformation-of-inverted-schneiderian-papillomas
#4
Lisa M Rooper, Justin A Bishop, William H Westra
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...
February 8, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28176137/smarca4-deficient-sinonasal-carcinoma
#5
Abbas Agaimy, Wilko Weichert
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...
February 7, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28176136/human-papillomavirus-associated-cancers-of-the-head-and-neck-an-australian-perspective
#6
REVIEW
Marwah Abbas Hassan Aldalwg, Brian Brestovac
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...
February 7, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28168398/olfactory-neuroblastoma-with-divergent-differentiation-an-unusual-histologic-finding-in-a-rare-tumor
#7
Charles Meyer, Erin R S Hamersley, Rodolfo E Manosalva, Kevin Torske, Nicole McIntyre, Allen Mitchell
Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of the sinonasal tract that arises from olfactory epithelium. There have been reports, mainly in tumors treated with chemoradiation or with distant metastases, describing focal histologic changes of divergent cell populations within archetypal ONB. Only three cases have been reported of ONB coexisting with non-neuroendocrine tumors. We describe our experience with a 35-year-old male with a nasal cavity mass extending into the anterior cranial fossa...
February 6, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#8
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28074344/multiple-oral-mucosal-hamartomas-in-a-34-year-old-female
#9
Jeffrey A Elo, Ho-Hyun Sun, Joel M Laudenbach, Hardev M Singh
A case of Cowden syndrome (CS) is described in a 34-year-old African American female who reported a history of breast and thyroid malignancies. Clinical examination demonstrated multiple soft, white-pink papules across multiple mucosal surfaces of the oral cavity. Microscopy of the lesions revealed hyperkeratotic surface squamous epithelium with papillomatosis and acanthosis along with elongated rete processes. A genomic polymerase chain reaction direct sequencing using the patient's blood was positive for mutations of the PTEN gene typical of CS...
January 10, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28032290/tils-in-head-and-neck-cancer-ready-for-clinical-implementation-and-why-not
#10
REVIEW
Astrid De Meulenaere, Tijl Vermassen, Sandrine Aspeslagh, Katrien Vandecasteele, Sylvie Rottey, Liesbeth Ferdinande
The assessment of tumor infiltrating lymphocytes (TILs) has recently emerged as a prognostic biomarker in several solid tumors. Quantification and subtyping of TILs reflects the immune response in the tumor microenvironment, contributing to either tumoral immune attack or escape and thereby affecting outcome. Despite the growing evidence of its value as prognosticator, TILs analysis has not yet found its way to daily clinical practice. The aim of this review is to evaluate whether the current knowledge on TILs in head and neck cancer justifies its clinical implementation...
December 28, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/28032289/sinonasal-renal-cell-like-carcinoma-case-report-and-review-of-the-literature
#11
Mark Kubik, Nicholas Barasch, Garret Choby, Raja Seethala, Carl Snyderman
The differential diagnosis for clear cell neoplasms of the sinonasal tract is wide but critical to understand. In this paper, we describe a case of renal cell-like adenocarcinoma (SNRCLA) presenting as a paranasal sinus mass with clear cell morphology. The relevant literature is reviewed and the workup for clear cell neoplasms described. SNRCLA is a rarely encountered low grade glandular malignancy of the paranasal sinuses. Despite its morphologic mimicry of renal cell carcinoma, SNRCLA demonstrates a seromucinous phenotype and is associated with a favorable prognosis and low recurrence rates after surgical resection...
December 28, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/28025779/correlation-of-ki-67-proliferative-antigen-expression-and-tumor-response-to-induction-chemotherapy-containing-cell-cycle-specific-agents-in-head-and-neck-squamous-cell-carcinoma
#12
Jonathan Chatzkel, James S Lewis, Jessica C Ley, Tanya M Wildes, Wade Thorstad, Hiram Gay, Mackenzie Daly, Ryan Jackson, Jason Rich, Randal Paniello, Brian Nussenbaum, Jingxia Liu, Barry A Siegel, Farrokh Dehdashti, Douglas Adkins
Determine if highly proliferative head and neck squamous cell carcinomas, assessed by pretreatment Ki-67 expression, respond more robustly to induction chemotherapy (IC) that is selectively toxic to cycling cells. Retrospective analysis of 59 patients treated with IC and chemoradiation. IC included either nab-paclitaxel, cisplatin, 5-FU and cetuximab (APF-C, n = 27) or docetaxel, cisplatin, 5-FU +/- cetuximab (TPF+/-C, n = 32). Ki-67 expression was assessed by immunohistochemistry. Tumor response (complete/partial/stable/progressive) at the primary site after two IC cycles was evaluated by visual examination in all patients...
December 26, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27943162/tubulopapillary-hidradenoma-like-tumour-of-the-mandible-a-case-report-and-literature-review
#13
Rajiv S Desai, Saurabh Nagar, Raguram Ganesan, Shivani Bansal, Pankaj M Shirsat
Tubulopapillary hidradenoma is an uncommon benign sweat gland tumour which appears as a well-defined superficially located dermal nodule, most commonly occurring in the head or of the extremities. Its occurrence is extremely rare in the mandible, as there are only two cases of tubulopapillary hidradenoma-like tumour of the mandiblereported in the literature. Microscopically, the lesion appears as a well circumscribed but unencapsulated neoplasm composed of numerous irregularly shaped tubular structures that have a double to several layered epithelial lining...
December 9, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27896667/head-and-neck-rhabdomyosarcoma-clinical-and-pathologic-characterization-of-seven-cases
#14
Eleanor Chen, Robert Ricciotti, Neal Futran, Dolphine Oda
Head and neck rhabdomyosarcoma occurs frequently in children and adolescents, and has been well studied in that population. In contrast, it is rare in adults and is not as well characterized clinically and pathologically. Seven cases of adult rhabdomyosarcoma occurring in head and neck were retrieved from the archives of Department of Pathology and Division of Oral Pathology at University of Washington. Radiologic findings and clinical history, as well as pathologic findings from hematoxylin and eosin slides and immunohistochemistry for myogenic markers were reviewed...
November 28, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27878449/pseudomyogenic-hemangioendothelioma-a-vascular-tumor-previously-undescribed-in-the-oral-cavity
#15
Yeshwant B Rawal, Kenneth M Anderson, Thomas B Dodson
The pseudomyogenic hemangioendothelioma (PMH) is a low-grade malignant vascular neoplasm of different tissue planes including skin and soft tissue. Primary tumors in the skeletal muscle and bone have also been diagnosed. The PMH was introduced into the WHO classification of tumors of soft tissue and bone in 2013. This is the first description of oral involvement. A 21-year-old female presented with a 2-month old swelling of her gingiva. The swelling appeared red in color and was soft in consistency. A clinical diagnosis of a pyogenic granuloma was made and an incisional biopsy was submitted for histopathological evaluation...
November 22, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27325237/granular-cell-tumour-of-the-larynx
#16
Rhona Sproat, Gentle Wong, John Rubin
A 55-year-old lady with a 6 month history of hoarse voice presented to our ENT department. Endoscopic examination displayed a white left arytenoid lesion. Biopsy of this lesion displayed a nodule covered with non-keratinizing stratified squamous epithelium, with a central core of polygonal cells, positive for S-100 staining. This confirmed a granular cell tumour. CO2 laser was utilised to excise this benign tumour. Granular cell tumours of the head and neck are common, but are infrequently found in the larynx...
December 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27325235/mycobacterium-avium-infection-of-nasal-septum-in-a-diabetic-adult-a-case-report
#17
Liyan Xu, Elza Matrova, Nicholas Edward Dietz
Mycobacterium avium complex (MAC) is primarily a pulmonary pathogen that affects individuals who are immune deficient or immunocompromised. In this report, we describe a very rare case of MAC infection clinically presenting as a nasal polyp in a patient with type 2 diabetes mellitus. This case illustrates an atypical anatomic location for MAC, the anterior nasal septum in nasal cavity, as well as often overlooked cause of immune compromise, diabetes mellitus. We present the laboratory findings that lead to the diagnosis as well as a brief review of MAC infections...
December 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27278378/expression-of-membrane-bound-mucins-and-p63-in-distinguishing-mucoepidermoid-carcinoma-from-papillary-cystadenoma
#18
Emily A Lanzel, Ali Pourian, Saulo L Sousa Melo, Kim A Brogden, John W Hellstein
The aim of this study was to compare the immunoexpression of epithelial mucins (MUCs) in salivary duct cysts, papillary cystadenomas, and mucoepidermoid carcinomas and to evaluate if any of these markers could be useful for differentiating between mucoepidermoid carcinoma and papillary cystadenoma. We also sought to validate the p63 expression pattern found to differentiate between mucoepidermoid carcinoma and papillary cystadenoma. Immunoexpression of MUC1, MUC2, MUC4, MUC7, and p63 was studied and quantified in 22 mucoepidermoid carcinomas, 12 papillary cystadenomas, and 3 salivary duct cysts...
December 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27272180/ameloblastoma-25%C3%A2-year-experience-at-a-single-institution
#19
Tatyana Milman, Gui-Shuang Ying, Wei Pan, Virginia LiVolsi
Ameloblastoma is a rare, locally aggressive odontogenic neoplasm, accounting for fewer than 1 % of head and neck tumors. Recent literature suggests that the initial surgical approach and histologic growth patterns are the most important prognostic determinants in ameloblastoma. The aim of this study was to compare the clinical presentation, management, and outcomes of patients with ameloblastoma with data reported in the literature; the study spanned 2 decades at a single institution. The institution's database was searched for all patients with pathologically confirmed ameloblastoma, diagnosed between 1990 and 2015...
December 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27260217/exclusive-primary-lesion-of-oral-leishmaniasis-with-immunohistochemical-diagnosis
#20
Tatiana Fernandes Araujo Almeida, Esmeralda Maria da Silveira, Cássio Roberto Rocha Dos Santos, Jorge Esquiche León, Ana Terezinha Marques Mesquita
A case of oral leishmaniasis without cutaneous involvement affecting the upper alveolar ridge mucosa/gingiva and the hard palate is reported in a 41-year-old Brazilian man. Microscopic examination disclosed scarce amastigotes and the definitive diagnosis was facilitated by immunohistochemical analysis. The clinical presentation of this lesion is unusual and underlies the importance of considering leishmaniasis in the differential diagnosis of oral lesions, especially in endemic areas. A literature review of the cases of mucosal leishmaniasis with exclusive primary lesions of the oral mucosa was also performed...
December 2016: Head and Neck Pathology
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