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Mucoepidermoid carcinoma (MEC) is a common malignancy arising in the parotid gland. The diagnosis of MEC is typically based on its morphological features alone, characteristically containing mucocytes, intermediate cells and epidermoid cells. However, when cystic degeneration is diffuse, it is challenging to distinguish MEC from other benign cystic tumors. This is a case report of a 58-year-old Caucasian man who presented with a parotid mass. H&E sections of the mass reveal multiloculated cysts lined by bland-looking epithelium with only rare papillary architectures. The papillary proliferation contains mucocytes, and epidermoid cells highlighted by the p63 immunohistochemistry study. The diagnosis was confirmed by FISH result of positive MAML2 (11q21) rearrangement. Patient underwent parotidectomy and is disease-free 6 months post-surgery. MEC with cystic degeneration is a common diagnostic pitfall which can mimic many benign lesions in the salivary gland. We present a rare case with MEC with extensive cystic change, its molecular and pathologic findings and review the diagnostic features of MEC, its benign mimickers and useful tools for distinguishing these entities.

Objectives: To integrate mRNA and miRNA expression profiles of mucoepidermoid carcinomas (MECs) and normal salivary gland (NSGs) tissue samples and identify potential drivers. Material and Methods: Gene and miRNA expression arrays were performed in 35 MECs and six NSGs. Results: We found 46 differentially expressed (DE) miRNAs and 3,162 DE mRNAs. Supervised hierarchical clustering analysis of the DE transcripts revealed two clusters in both miRNA and mRNA profiles, which distinguished MEC from NSG samples. The integrative miRNA-mRNA analysis revealed a network comprising 696 negatively correlated interactions (44 miRNAs and 444 mRNAs) involving cell signaling, cell cycle, and cancer-related pathways. Increased expression levels of miR-205-5p and miR-224-5p and decreased expression levels of miR-139-3p, miR-145-3p, miR-148a-3p, miR-186-5p, miR-338-3p, miR-363-3p, and miR-4324 were significantly related to worse overall survival in MEC patients. Two overexpressed miRNAs in MEC (miR-22 and miR-205) were selected for inhibition by the CRISPR-Cas9 method. Cell viability, migration, and invasion assays were performed using an intermediate grade MEC cell line. Knockout of miR-205 reduced cell viability and enhanced ZEB2 expression, while miR-22 knockout reduced cell migration and invasion and enhanced ESR1 expression. Our results indicate a distinct transcriptomic profile of MEC compared to NSG, and the integrative analysis highlighted miRNA-mRNA interactions involving cancer-related pathways, including PTEN and PI3K/AKT. Conclusion: The in vitro functional studies revealed that miR-22 and miR-205 deficiencies reduced the viability, migration, and invasion of the MEC cells suggesting they are potential oncogenic drivers in MEC.

Adenoid cystic carcinoma is a relatively rare epithelial tumor of the major and minor salivary glands that makes up less than 1% of head and neck neoplasms. The typical clinical and pathological findings of this neoplasm include slow growth, perineural invasion, multiple local recurrences, and distant metastasis. Herein, we report a patient with adenoid cystic carcinoma located to the lower lip which is quite uncommon.

Adenoid cystic carcinoma is a relatively rare epithelial tumor of the major and minor salivary glands that makes up less than 1% of head and neck neoplasms. The typical clinical and pathological findings of this neoplasm include slow growth, perineural invasion, multiple local recurrences, and distant metastasis. Herein, we report a patient with adenoid cystic carcinoma located to the lower lip which is quite uncommon.

Objective: To review the available literature as it pertains to the buccal space with a specific focus on the pathologies encountered within this space. Clinical presentation, investigations, and surgical approaches to the region are also reviewed. Method(s): A systematic review of the available literature was performed on buccal space tumours from 1980 to 2017. Data was extracted on clinical presentation, investigations and surgical approaches to the buccal space. The pathologies encountered in the buccal space were reviewed and presented. Result(s): Forty-nine unique articles were reviewed, with a total 217 patients. The age of the patients ranged from 0 to 83 with a mean age of 45.8. A total of 51 pathologies were reported. The majority of these were vascular and salivary gland pathologies. The majority of salivary gland neoplasms were malignant. However a wide variety of benign and malignant soft tissue tumours were also reported to occur in this region. Conclusion(s): The buccal space is a small and complex region with a variety of pathologies occurring within it. This review clarifies the differential diagnosis of a mass which presents in this area and the pathologies which occur within it.Copyright © 2018

Objective: To review the available literature as it pertains to the buccal space with a specific focus on the pathologies encountered within this space. Clinical presentation, investigations, and surgical approaches to the region are also reviewed. Method(s): A systematic review of the available literature was performed on buccal space tumours from 1980 to 2017. Data was extracted on clinical presentation, investigations and surgical approaches to the buccal space. The pathologies encountered in the buccal space were reviewed and presented. Result(s): Forty-nine unique articles were reviewed, with a total 217 patients. The age of the patients ranged from 0 to 83 with a mean age of 45.8. A total of 51 pathologies were reported. The majority of these were vascular and salivary gland pathologies. The majority of salivary gland neoplasms were malignant. However a wide variety of benign and malignant soft tissue tumours were also reported to occur in this region. Conclusion(s): The buccal space is a small and complex region with a variety of pathologies occurring within it. This review clarifies the differential diagnosis of a mass which presents in this area and the pathologies which occur within it.Copyright © 2018

Adenoid cystic carcinoma (ACC), the second most common salivary gland malignancy, is notorious for poor prognosis, which reflects the propensity of ACC to progress to clinically advanced metastatic disease. Due to high long-term mortality and lack of effective systemic treatment, the slow-growing but aggressive ACC poses a particular challenge in head and neck oncology. Despite the advancements in cancer genomics, up until recently relatively few genetic alterations critical to the ACC development have been recognized. Although the specific chromosomal translocations resulting in MYB-NFIB fusions provide insight into the ACC pathogenesis and represent attractive diagnostic and therapeutic targets, their clinical significance is unclear, and a substantial subset of ACCs do not harbor the MYB-NFIB translocation. Strategies based on detection of newly described genetic events (such as MYB activating super-enhancer translocations and alterations affecting another member of MYB transcription factor family-MYBL1) offer new hope for improved risk assessment, therapeutic intervention and tumor surveillance. However, the impact of these approaches is still limited by an incomplete understanding of the ACC biology, and the manner by which these alterations initiate and drive ACC remains to be delineated. This manuscript summarizes the current status of gene fusions and other driver genetic alterations in ACC pathogenesis and discusses new therapeutic strategies stemming from the current research.

Adenoid cystic carcinoma (ACC), the second most common salivary gland malignancy, is notorious for poor prognosis, which reflects the propensity of ACC to progress to clinically advanced metastatic disease. Due to high long-term mortality and lack of effective systemic treatment, the slow-growing but aggressive ACC poses a particular challenge in head and neck oncology. Despite the advancements in cancer genomics, up until recently relatively few genetic alterations critical to the ACC development have been recognized. Although the specific chromosomal translocations resulting in MYB-NFIB fusions provide insight into the ACC pathogenesis and represent attractive diagnostic and therapeutic targets, their clinical significance is unclear, and a substantial subset of ACCs do not harbor the MYB-NFIB translocation. Strategies based on detection of newly described genetic events (such as MYB activating super-enhancer translocations and alterations affecting another member of MYB transcription factor family-MYBL1) offer new hope for improved risk assessment, therapeutic intervention and tumor surveillance. However, the impact of these approaches is still limited by an incomplete understanding of the ACC biology, and the manner by which these alterations initiate and drive ACC remains to be delineated. This manuscript summarizes the current status of gene fusions and other driver genetic alterations in ACC pathogenesis and discusses new therapeutic strategies stemming from the current research.

El carcinoma ex adenoma pleomorfo es un tumor maligno de las glándulas salivales mayores, raro derivado de un adenoma pleomorfo preexistente. El rango de edad va de la primera a la quinta década, con predilección al género femenino, pueden ser malignos desde el inicio o existir una transformación carcinomatosa. Presentamos el caso de un paciente de 55 años atendido en el Hospital Escuela Universitario de la ciudad de Tegucigalpa, Honduras, con historia de masa cervical izquierda de 8 meses de evolución, crecimiento progresivo, pérdida de peso involuntaria, astenia y adinamia. Al examen físico: Mucosa oral izquierda desplazada hacia la línea media con engrosamiento, masa a nivel retroauricular izquierdo de 5 × 5 cm, pétrea, no móvil, adherida a plano profundo, dolorosa al tacto, adenopatías supraclaviculares y en hemicuello izquierdo, resto de examen físico normal. Resonancia magnética evidencio tumoración en la región parafaringea izquierda, biopsia a cielo abierto reportó adenoma pleomorfico, tumor mixto, maligno en porción inferior y superficial de glándula parótida izquierda que infiltra por contigüidad a dos ganglios linfáticos. Por lo anterior se concluyó que es un carcinoma pobremente diferenciado emergiendo de un adenoma pleomorfico convirtiéndose en una neoplasia maligna. El carcinoma ex adenoma pleomorfo es una neoplasia maligna de difícil diagnóstico, el interrogatorio adecuado, un examen físico completo y los estudios de imagen son de vital importancia en pacientes con sospecha de masa parotídea para evitar la transformación maligna ya que es un tumor muy agresivo con una esperanza de vida baja., Carcinoma ex pleomorphic adenoma is a rare malignant tumor of the major salivary glands, derived from a preexisting pleomorphic adenoma. The average age is 46 years, but the range is since the first to the fifth decade with a predilection for the female gender, this could be a malignant tumor since the beginning or to be a carcinomatous transformation in the tumor. We present a patient, male, 55 years served in University School Hospital from Tegucigalpa, Honduras, with history left cervical mass of eight months of evolution, progressive growth, accompanied loss of involuntary weight, asthenia and adinamia. On physical examination found: mucosal left displaced medially with thickening, Mass behind the left ear with 5 × 5 cm, stone, not moving, adhered to deep plane, painful to the touch, with supraclavicular lymph nodes and left anterior and posterior triangle, other normal physical examination. MRI Neck reported a mass on the left parapharyngeal region, the biopsy reported pleomorphic adenoma (mixed tumor) malignant on lower portion of left parotid gland surface with infiltrating contiguity to two small lymph nodes, intralesional. Therefore, the conclusion is a poorly differentiated carcinoma emerging from a pleomorphic adenoma whom became to a malign tumor. Ex pleomorphic adenoma is a malign neoplasm of difficult to diagnose. The proper examination, a complete physical examination and request imaging studies are very important in patients with suspect of parotid mass to avoid the malignant transformation, whose prognosis is generally bad for his character aggressive.

Effective treatment options for advanced salivary gland tumors are lacking. To better understand these tumors, we report their genomic landscape. We studied the molecular aberrations in 117 patients with salivary gland tumors that were, on physician request, tested in a Clinical Laboratory Improvement Amendments (CLIA) laboratory (Foundation Medicine, Cambridge, MA) using next-generation sequencing (182 or 236 genes), and analyzed by N-of-One, Inc. (Lexington, MA). There were 354 total aberrations, with 240 distinct aberrations identified in this patient population. Only 10 individuals (8.5%) had a molecular portfolio that was identical to any other patient (with four different portfolios amongst the ten patients). The most common abnormalities involved the TP53 gene (36/117 [30.8% of patients]), cyclin pathway (CCND1, CDK4/6 or CDKN2A/B) (31/117 [26.5%]) and PI3K pathway (PIK3CA, PIK3R1, PTEN or AKT1/3) (28/117 [23.9%]). In multivariate analysis, statistically significant co-existing aberrations were observed as follows: TP53 and ERBB2 (p = 0.01), cyclin pathway and MDM2 (p = 0.03), and PI3K pathway and HRAS (p = 0.0001). We were able to identify possible cognate targeted therapies in most of the patients (107/117 [91.5%]), including FDA-approved drugs in 80/117 [68.4%]. In conclusion, salivary gland tumors were characterized by multiple distinct aberrations that mostly differed from patient to patient. Significant associations between aberrations in TP53 and ERBB2, the cyclin pathway and MDM2, and HRAS and the PI3K pathway were identified. Most patients had actionable alterations. These results provide a framework for tailored combinations of matched therapies.

Effective treatment options for advanced salivary gland tumors are lacking. To better understand these tumors, we report their genomic landscape. We studied the molecular aberrations in 117 patients with salivary gland tumors that were, on physician request, tested in a Clinical Laboratory Improvement Amendments (CLIA) laboratory (Foundation Medicine, Cambridge, MA) using next-generation sequencing (182 or 236 genes), and analyzed by N-of-One, Inc. (Lexington, MA). There were 354 total aberrations, with 240 distinct aberrations identified in this patient population. Only 10 individuals (8.5%) had a molecular portfolio that was identical to any other patient (with four different portfolios amongst the ten patients). The most common abnormalities involved the TP53 gene (36/117 [30.8% of patients]), cyclin pathway (CCND1, CDK4/6 or CDKN2A/B) (31/117 [26.5%]) and PI3K pathway (PIK3CA, PIK3R1, PTEN or AKT1/3) (28/117 [23.9%]). In multivariate analysis, statistically significant co-existing aberrations were observed as follows: TP53 and ERBB2 (p = 0.01), cyclin pathway and MDM2 (p = 0.03), and PI3K pathway and HRAS (p = 0.0001). We were able to identify possible cognate targeted therapies in most of the patients (107/117 [91.5%]), including FDA-approved drugs in 80/117 [68.4%]. In conclusion, salivary gland tumors were characterized by multiple distinct aberrations that mostly differed from patient to patient. Significant associations between aberrations in TP53 and ERBB2, the cyclin pathway and MDM2, and HRAS and the PI3K pathway were identified. Most patients had actionable alterations. These results provide a framework for tailored combinations of matched therapies.