Head and neck pathology最新文献

{"title":"Carcinoma Cuniculatum of the Oral Cavity: A Series of 6 Cases and Review of Literature.","authors":"Subhash Yadav,&nbsp;Munita Bal,&nbsp;Swapnil Rane,&nbsp;Neha Mittal,&nbsp;Amit Janu,&nbsp;Asawari Patil","doi":"10.1007/s12105-021-01340-6","DOIUrl":"https://doi.org/10.1007/s12105-021-01340-6","url":null,"abstract":"<p><p>Carcinoma cuniculatum (CC) is a rare variant of squamous cell carcinoma (SCC) that is characterized by minimal cytologic atypia and a unique deeply infiltrative growth pattern resembling rabbit burrows (cuniculi). With less than 75 cases reported in the head and neck, the clinical and pathologic spectrum of this entity remains poorly understood. A retrospective review of the clinical and pathologic features of archival cases of oral CC was performed. A total of six cases of oral CC were identified. Age ranged from 25-77 years; the male-to-female ratio was 5:1. All patients had a long-standing history of tobacco and betel-quid consumption. The tumors were distributed in the gingivobuccal sulcus (n = 2), the tongue (n = 2), buccal mucosa (n = 1), and the palate (n = 1). Histology in all cases typically revealed a tumor composed of well-differentiated squamous epithelium, devoid of atypia, lining deeply infiltrative, large-sized, branching, keratin-filled cavities, resembling rabbit-burrows. Dense lymphocytic infiltrates and discharging micro-abscesses were regular features. Underlying bone invasion and lymph node metastasis were observed in 1 patient. One patient with a tongue tumor developed locoregional recurrence at 10 months while none developed distant metastasis. Oral CC is a rare and under-recognized variant of SCC with locally aggressive behavior. Lack of familiarity with this variant exacerbated by the absence of cytologic anaplasia makes CC susceptible to multiple negative biopsies and erroneous diagnoses. Awareness of this clinicopathologic entity is essential to allow its accurate diagnosis and optimal management.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"213-223"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01340-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39051573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SALL-4 and Beta-Catenin Expression in Sinonasal Teratocarcinosarcoma.","authors":"Margaret L Compton,&nbsp;James S Lewis,&nbsp;William C Faquin,&nbsp;Nicole A Cipriani,&nbsp;Qiuying Shi,&nbsp;Kim A Ely","doi":"10.1007/s12105-021-01343-3","DOIUrl":"https://doi.org/10.1007/s12105-021-01343-3","url":null,"abstract":"<p><p>Sinonasal teratocarcinosarcoma (SNTCS) is a rare, aggressive malignancy that displays a heterogeneous combination of malignant blastema-like, epithelial and mesenchymal components. Its exact histogenesis is unknown with hypotheses ranging from true germ cell derivation to origin from pluripotent stem cells. However, despite this tumor's multiphenotypic histology, which includes frequent glandular, squamous, and neuroectodermal differentiation similar to adnexal germ cell tumors, SNTCS appears to have some differences from adnexal teratomas. For example, unlike adnexal teratomas, SNTCS has never been described as a component in a mixed germ cell tumor. Accurate recognition of SNTCS is difficult due to its rarity and histologic overlap with other sinonasal tumors. It is even more problematic on biopsy, since not all elements may be present in small samples. SNTCS can also share similar staining patterns with other neoplasms in the differential diagnosis. A recent study found nuclear β-catenin expression in a single TCS, but this has yet to be confirmed in additional cases. SALL-4, a marker of germ cell tumors, has not been examined. We performed β-catenin and SALL-4 immunohistochemistry on whole sections of 7 SNTCS and 19 other sinonasal neoplasms to assess whether β-catenin and SALL-4 are of utility in establishing a diagnosis of SNTCS. Intensity of expression and percentage of staining was noted for each tumor. For SNTCS, distribution of staining within each histologic component (immature neuroectodermal, epithelial, and mesenchymal) was also documented. Nuclear β-catenin expression was not identified in any SNTCS, with all cases demonstrating membranous expression (6 cases) or cytoplasmic and membranous expression (1 case). SALL-4 immunohistochemistry, however, was relatively sensitive (85.7%) and specific (89.5%) for SNTCS. SALL-4 expression was also identified in one poorly differentiated neuroendocrine carcinoma and one case of sinonasal undifferentiated carcinoma. SALL-4 appears to have utility in distinguishing SNTCS from other high grade sinonasal tumors.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"229-235"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01343-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39076077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Well-Differentiated Liposarcoma of the Hypopharynx Exhibiting Myxoid Liposarcoma-like Morphology with MDM2 and DDIT3 Co-Amplification.","authors":"Khaled A Murshed,&nbsp;Hayan Abo Samra,&nbsp;Adham Ammar","doi":"10.1007/s12105-021-01341-5","DOIUrl":"https://doi.org/10.1007/s12105-021-01341-5","url":null,"abstract":"<p><p>Well-differentiated liposarcoma (WDL) is one of the most common soft tissue sarcomas in adults. It has a predilection for middle-aged males and arises in deep-seated locations such as retroperitoneum, mediastinum, and spermatic cord. Its occurrence in young individuals at the hypopharyngeal region is an exceedingly rare event. Myxoid liposarcoma (ML)-like changes can seldom occur in some cases of WDL, which makes the diagnosis of WDL more challenging. Amplification of DDIT3 gene in a subset of cases of WDL has shown to be associated with such unique morphology. Herein, we present a case of a 36-year-old gentleman who presented with difficulty in breathing and swallowing for 3 months duration. CT scan of the neck revealed a lesion along the posterior wall of the hypopharynx measuring 3.5 cm. Histopathologic examination revealed a tumor composed of lobules of oval to spindle cells in a prominent myxoid stroma with delicate chicken-wire vasculature. In the vicinity, there were lobules composed of variably sized adipocytes separated by thick fibrous septa that contains atypical hyperchromatic spindle cells. By immunohistochemistry, the tumor cells in both components were immunoreactive for CDK4, but negative for MDM2. Fluorescence in-situ hybridization (FISH) confirmed the presence of MDM2 gene amplification. There was no evidence of FUS-DDIT3 gene rearrangement, however, DDIT3 gene was also amplified. The diagnosis of well-differentiated liposarcoma with prominent myxoid stroma was rendered. This is the first documentation of WDL with ML-like morphology harboring co-amplification of MDM2 and DDIT3 in the hypopharynx.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"288-293"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01341-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38994811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leiomyoma and Leiomyosarcoma (Primary and Metastatic) of the Oral and Maxillofacial Region: A Clinicopathological and Immunohistochemical Study of 27 Cases.","authors":"Gabriela Ribeiro de Araújo,&nbsp;Sara Ferreira Dos Santos Costa,&nbsp;Ricardo Alves Mesquita,&nbsp;Ricardo Santiago Gomez,&nbsp;Jean Nunes Dos Santos,&nbsp;Hélder Antônio Rebelo Pontes,&nbsp;Bruno Augusto Benevenuto de Andrade,&nbsp;Mário José Romañach,&nbsp;Michelle Agostini,&nbsp;Pablo Agustin Vargas,&nbsp;Cinthia Verônica Bardalez Lopez de Cáceres,&nbsp;Alan Roger Santos-Silva,&nbsp;Ana Carolina Prado Ribeiro,&nbsp;Thaís Bianca Brandão,&nbsp;Ramiro Alejandro Tomasi,&nbsp;Ruth Salomé Ferreyra,&nbsp;Oslei Paes de Almeida,&nbsp;Felipe Paiva Fonseca","doi":"10.1007/s12105-021-01336-2","DOIUrl":"https://doi.org/10.1007/s12105-021-01336-2","url":null,"abstract":"<p><p>Smooth muscle neoplasms represent an important group of lesions which is rare in the oral cavity. Leiomyoma (LM) is benign smooth muscle/pericytic tumor usually presenting as non-aggressive neoplasm, while leiomyosarcoma (LMS) represents its malignant counterpart. The rarity of these lesions, together with its unspecific clinical presentation and a variable histopathological appearance, lead to a broad list of differential diagnoses, hampering their diagnoses. Therefore, in this study we describe the clinical and microscopic features of a series of oral and maxillofacial LMs and LMSs. A retrospective search from 2000 to 2019 was performed and all cases diagnosed as LM and LMS affecting the oral cavity and gnathic bones were retrieved. Clinical and demographic data were obtained from the patients' pathology records, while microscopic features and immunohistochemistry were reviewed and completed when necessary to confirm the diagnoses. Twenty-two LMs and five LMSs were obtained. In the LM group, males predominated, with a mean age of 45.7 years. The upper lip was the most affected site, and 18 cases were classified as angioleiomyomas and four as solid LM. In the LMS group, females predominated, with a mean age of 47.6 years. The mandible was the most affected site. Diffuse proliferation of spindle cells, with necrosis and mitotic figures, were frequent microscopic findings. LMs and LMSs were positive for α-smooth muscle actin, HHF-35 and h-caldesmon. In conclusion, oral LM/LMS are uncommon neoplasms with the latter usually presenting as metastatic disease. H&E evaluation may be very suggestive of oral LMs, but h-caldesmon staining is strongly recommended to confirm LMS diagnosis.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"294-303"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01336-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39076076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Hypopharynx, Larynx, Trachea and Parapharyngeal Space.","authors":"Nina Zidar,&nbsp;Nina Gale","doi":"10.1007/s12105-021-01405-6","DOIUrl":"https://doi.org/10.1007/s12105-021-01405-6","url":null,"abstract":"<p><p>In this article, we review the chapter on tumors of the larynx, hypopharynx, trachea and parapharyngeal space in the new edition of the WHO book, focusing on the new developments in comparison to the previous edition. Squamous cell carcinoma (SCC) and its variants are by far the most common malignancies at these locations, with very limited new insights. The most important is the introduction of new targeted treatment-checkpoint inhibitors, with a new task for pathologists, who may help to predict the response to treatment by analyzing the expression of targeted proteins in biopsy samples. Precancerous lesions remain a controversial topic and, similarly to other organs, it is acceptable to use the terms \"dysplasia\" or \"squamous intraepithelial lesion\" (SIL), but there is a slight difference between low-grade dysplasia and low-grade SIL: in the former, mild atypia must be present, while the latter also includes hyperplastic epithelium without atypia. Two approaches have been proposed: a two-tiered system with low- and high-grade dysplasia/SIL and a three-tiered system with an additional category, carcinoma in situ. We are still searching for reliable diagnostic markers to surpass the subjectivity in biopsy diagnosis, with a few potential candidate markers on the horizon, e.g., stem cell markers. Other tumors are rare at these locations, e.g., hematolymphoid, neuroendocrine and salivary gland neoplasms, and are no longer included in Chapter 3. They must be diagnosed according to criteria described in specific chapters. The same holds true for soft tissue tumors, with the exception of cartilaginous neoplasms, which are still included in Chapter 3.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"31-39"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40311843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral Lymphoepithelial Cyst: A Collaborative Clinicopathologic Study of 132 Cases from Brazil.","authors":"John Lennon Silva Cunha,&nbsp;Ana Luiza Oliveira Corrêa Roza,&nbsp;Vitória Maria Sousa Cruz,&nbsp;Jaqueline Lemes Ribeiro,&nbsp;Israel Leal Cavalcante,&nbsp;Roberta Barroso Cavalcante,&nbsp;Ana Lia Anbinder,&nbsp;Aline Corrêa Abrahão,&nbsp;Bruno Augusto Benevenuto de Andrade,&nbsp;Mário José Romañach,&nbsp;Fábio Ramôa Pires,&nbsp;Alan Roger Dos Santos-Silva,&nbsp;Márcio Ajudarte Lopes,&nbsp;Pablo Agustin Vargas,&nbsp;Ciro Dantas Soares,&nbsp;Oslei Paes de Almeida","doi":"10.1007/s12105-021-01352-2","DOIUrl":"https://doi.org/10.1007/s12105-021-01352-2","url":null,"abstract":"<p><p>The oral lymphoepithelial cyst (OLC) is an uncommon lesion whose pathogenesis remains poorly understood. The aim of this study was to report the clinicopathologic features of the OLCs and to verify a possible association between OLCs and subgemmal neurogenous plaque (SNP) in the posterior lateral region of the tongue. A retrospective descriptive cross-sectional study was carried out. A total of 106,282 biopsy records of oral and maxillofacial lesions from six oral pathology services in Brazil were analyzed. All cases of OLCs were reviewed, and clinical and histopathological data were collected. Immunohistochemical reactions for S-100 protein were performed to confirm the diagnosis of SNP. Among all lesions, there were 132 (0.11%) cases of OLCs. The series comprised 83 females (62.9%) and 49 males (37.1%), with a 1.7:1 female-to-male ratio and a mean age of 45.8 ± 17.7 years. Most cases involved the tongue (n = 80; 62.0%) and presented clinically as asymptomatic papules or nodules with a yellow or whitish color. Microscopically, most of the cysts were entirely lined by parakeratinized stratified epithelium (n = 89; 67.4%) and filled with desquamated cells, keratin debris, amorphous eosinophilic material, and inflammatory cells in varying amounts. Connection with the epithelium of oral mucosa was observed in 18 cases (13.6%). SNP was found in 9/80 (11.2%) cases involving the tongue. The clinical and demographic features of OLCs were similar to those described in previous studies. Overall, this lesion has a predilection for the posterior region of the tongue of female adults. Clinicians must include the OLC in the differential diagnosis of yellow/white papules and nodules of the oral cavity.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"268-277"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01352-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39037720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endocrine Mucin Producing Sweat Gland Carcinoma with Metastasis to Parotid Gland: Not as Indolent as Perceived?","authors":"Jayati Sarangi,&nbsp;Abhilash Konkimalla,&nbsp;Kavneet Kaur,&nbsp;Kapil Sikka,&nbsp;Seema Sen,&nbsp;Aanchal Kakkar","doi":"10.1007/s12105-021-01353-1","DOIUrl":"https://doi.org/10.1007/s12105-021-01353-1","url":null,"abstract":"<p><p>Endocrine mucin-producing sweat gland carcinoma (EMPSCG) is a rare, low-grade cutaneous adnexal neoplasm with evidence of neuroendocrine differentiation, predominantly involving the eyelids of elderly. It has a striking resemblance to solid papillary carcinoma of breast which similarly displays neuroendocrine features. EMPSGC is considered a precursor of cutaneous mucinous carcinoma, and the term \"mucinous carcinoma\" is also recommended for hybrid lesions which reveal an invasive mucinous component associated with EMPSGC. While local recurrences are well- documented in EMPSGC, metastases had not been encountered until very recently; two reports in the past year have described metastases from eyelid EMPSGC to the parotid gland after a prolonged interval from the primary presentation. We report the case of a 78-year-old male with eyelid EMPSGC metastatic to the parotid gland nine years after excision of the primary tumor, which had initially been diagnosed as a poorly differentiated carcinoma. Development of metastasis after a prolonged interval is similar to both the previously described cases, and emphasizes the need to reevaluate the stated indolent nature of this neoplasm. It also aims to draw attention of pathologists to this uncommon tumor of the eyelid which is often misdiagnosed on primary presentation.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"331-337"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01353-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39115533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kimura Disease: A Rare and Difficult to Diagnose Entity.","authors":"Clayton Bishop,&nbsp;Alyeesha Wilhelm,&nbsp;Duncan Watley,&nbsp;Felix Olobatuyi,&nbsp;Orly Coblens,&nbsp;Rohan Joshi","doi":"10.1007/s12105-021-01359-9","DOIUrl":"https://doi.org/10.1007/s12105-021-01359-9","url":null,"abstract":"<p><p>Kimura disease (KD) is a rare inflammatory disorder which involves the head and neck. Due to its rarity and various findings, definitive diagnosis can be difficult to ascertain. Kimura disease is distinguished from other conditions, including angiolymphoid hyperplasia, by histopathological features including follicular hyperplasia, reactive germinal centers, abundant eosinophilia, eosinophilic microabscesses, preserved nodal architecture, Warthin-Finkeldy polykaryocytes, and capsular fibrosis. Herein, we describe the clinical presentation, pathology, and diagnosis of a single case of a 39-year-old treated at an academic center in Texas.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"278-281"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01359-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39201191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mammary Lobular Carcinoma-Like Salivary Gland Carcinoma: Report of a Rare Case.","authors":"Li Lei,&nbsp;Eric Van Staalduinen,&nbsp;Megan Troxell,&nbsp;Michael G Ozawa,&nbsp;Michael Zeineh,&nbsp;Gerald Berry","doi":"10.1007/s12105-021-01344-2","DOIUrl":"https://doi.org/10.1007/s12105-021-01344-2","url":null,"abstract":"<p><p>Salivary and mammary glands are both exocrine organs sharing multiple tumorigenic processes. To the best of our knowledge, salivary gland tumors mimicking invasive lobular carcinoma of the breast have not yet been described. Herein, we report a case of a 62-year-old male who presented with progressive facial paralysis. Pathologic examination revealed an ill-defined epithelial neoplasm exhibiting discohesive growth set within an extensively fibrotic stroma. Both perineural and intraneural invasion were present. E-cadherin and p120 immunostaining showed aberrant cytoplasmic expression. Targeted next-generation sequencing detected a frameshift mutation of the CTNNA1 gene as the only known pathogenic variant. The patient was treated with surgical resection, immunotherapy, and chemotherapy. Currently, he is alive with disease twenty months after disease onset.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"314-321"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01344-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39102472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Rates of Ultraviolet-Signature Mutations in Squamous Cell Carcinomas of the Parotid Gland and Prognostic Implications.","authors":"Shira Fishbach,&nbsp;George Steinhardt,&nbsp;Chao Jie Zhen,&nbsp;Rutika Puranik,&nbsp;Jeremy P Segal,&nbsp;Nicole A Cipriani","doi":"10.1007/s12105-021-01349-x","DOIUrl":"https://doi.org/10.1007/s12105-021-01349-x","url":null,"abstract":"<p><p>In the absence of clear pathologic differences, clinical history may differentiate potential primary parotid squamous cell carcinomas (SCC) from metastases. The presence of an ultraviolet (UV) signature can distinguish between tumors of cutaneous and non-cutaneous origin. This study aimed to investigate rates of UV signature mutations in squamous cell carcinomas of the parotid gland as well as differences in clinical features between tumors of cutaneous and non-cutaneous origin. Clinical and pathologic data were collected from 71 patients with SCC involving the parotid gland, of which 48 had cutaneous, 10 had mucosal, and 13 had no history of SCC. In 34 available cases, genomic DNA was isolated from formalin-fixed paraffin-embedded tissue specimens and sequenced using a targeted hybrid capture 1213 gene panel. Tumor mutational burden and COSMIC (Catalogue of Somatic Mutations in Cancer) mutational signatures were calculated. Most (74%) were UV-positive. Patients with UV-positive tumors were significantly older, white, and had higher rates of sun exposure. Patients with UV-negative tumors had a significantly higher mortality rate and shorter time to death: 6 (67%) died of disease with a median time to death of 9 months compared to 5 (20%) UV-positive patients who died of disease with a median time to death of 32 months. Pathologic features did not significantly vary by clinical history or UV status. The presence of a UV-signature combined with clinical history can be used to determine the primary source of SCC involving the parotid gland. UV-positivity may reflect a less aggressive disease course in an older population.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":" ","pages":"236-247"},"PeriodicalIF":2.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s12105-021-01349-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39099451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}