Features Of Adenoid Cystic Carcinoma Research Articles

EZH2 immunoexpression in pleomorphic adenoma and adenoid cystic carcinoma and clinicopathological features.

The aim of this study was to evaluate the expression of the EZH2 protein and describe the clinical and microscopic characteristics of adenoid cystic carcinoma (ACC) and pleomorphic adenoma (PA). The study included 16 ACC cases and 12 PA. All ACC and PA cases were positive for EZH2 and the ACC samples showed significantly higher EZH2 expression. The clinical and microscopic covariates were described in relation to EZH2 staining in ACC samples. The highest mean values of EZH2 were observed in cases with local metastasis, recurrence, perineural invasion, and predominantly cribriform growth pattern without solid areas. EZH2 is a potential marker of malignancy.

ADENOID CYSTIC CARCINOMA OF MINOR SALIVARY GLANDS: A 10-YEAR SINGLE-CENTER RETROSPECTIVE STUDY

Objective The aim of this study was to evaluate the clinicopathologic features of adenoid cystic carcinoma of minor salivary glands (ACC-MSG) from a single Brazilian Oral Pathology Laboratory. Study Design Clinical data and conventionally stained slides of all cases diagnosed as ACC-MSG between 2012 and 2021 were retrieved from the Laboratory files and microscopically reviewed. Results There were 23 cases of ACC-MSG in the last 10 years (2.3 cases/year) affecting 16 women (69.6%) and 7 men (30.4%) (mean age of 53 years). The palate was the most affected site (10 cases, 43.5%), followed by the floor of mouth (5 cases, 21.7%), buccal mucosa (3 cases, 13%), and tongue (3 cases, 13%). The main clinical presentation was of a nodule (16 cases; 69.6%), 4 of which displaying an ulcerated surface. Four cases appeared as ulcers (17.4%). Pain was reported in 12 cases (52.2%). Microscopically, 12 cases (52.2%) showed both cribriform and tubular patterns, while focal solid areas were observed in 14 cases (60.9%). Ten cases (43.5%) exhibited perineural invasion, and a single case showed necrosis. Conclusion The clinicopathologic profile of ACC-MSG in this Brazilian population is similar to previous studies. Approximately half of the cases exhibited pain and perineural invasion. The aim of this study was to evaluate the clinicopathologic features of adenoid cystic carcinoma of minor salivary glands (ACC-MSG) from a single Brazilian Oral Pathology Laboratory. Clinical data and conventionally stained slides of all cases diagnosed as ACC-MSG between 2012 and 2021 were retrieved from the Laboratory files and microscopically reviewed. There were 23 cases of ACC-MSG in the last 10 years (2.3 cases/year) affecting 16 women (69.6%) and 7 men (30.4%) (mean age of 53 years). The palate was the most affected site (10 cases, 43.5%), followed by the floor of mouth (5 cases, 21.7%), buccal mucosa (3 cases, 13%), and tongue (3 cases, 13%). The main clinical presentation was of a nodule (16 cases; 69.6%), 4 of which displaying an ulcerated surface. Four cases appeared as ulcers (17.4%). Pain was reported in 12 cases (52.2%). Microscopically, 12 cases (52.2%) showed both cribriform and tubular patterns, while focal solid areas were observed in 14 cases (60.9%). Ten cases (43.5%) exhibited perineural invasion, and a single case showed necrosis. The clinicopathologic profile of ACC-MSG in this Brazilian population is similar to previous studies. Approximately half of the cases exhibited pain and perineural invasion.

EZH2 IMMUNOEXPRESSION IN PLEOMORPHIC ADENOMA AND ADENOID CYSTIC CARCINOMA: A PRELIMINARY STUDY

Objective To evaluate the expression of the EZH2 protein and describe the clinical and microscopic characteristics of adenoid cystic carcinoma (ACC) and pleomorphic adenoma (PA), which emphasizes the importance of defining the malignancy of the neoplasm. Results Histopathological analysis of PA cases showed myoepithelial and glandular epithelial cells arranged as duct-like structures and sheets intermingled in the variable stroma, and ACC cases showed the three growth patterns, tubular, cribriform and solid forms. All ACC and PA cases were positive for EZH2, with diffuse nuclear staining in neoplastic cells. The ACC samples showed significantly higher EZH2 expression compared to the PA. The covariables nodal metastasis, recurrence, growth pattern, presence of solid areas, and perineural invasion have been described in relation to EZH2 staining in ACC samples. Conclusion The results of the study improve the understanding of the clinical and histological characteristics of ACC, as well as the behavior of lesions. In addition, the analysis showed that EZH2 is a potential marker of malignancy and highlights the importance of validating molecular markers of epigenetic alterations. Support CAPES. To evaluate the expression of the EZH2 protein and describe the clinical and microscopic characteristics of adenoid cystic carcinoma (ACC) and pleomorphic adenoma (PA), which emphasizes the importance of defining the malignancy of the neoplasm. Histopathological analysis of PA cases showed myoepithelial and glandular epithelial cells arranged as duct-like structures and sheets intermingled in the variable stroma, and ACC cases showed the three growth patterns, tubular, cribriform and solid forms. All ACC and PA cases were positive for EZH2, with diffuse nuclear staining in neoplastic cells. The ACC samples showed significantly higher EZH2 expression compared to the PA. The covariables nodal metastasis, recurrence, growth pattern, presence of solid areas, and perineural invasion have been described in relation to EZH2 staining in ACC samples. The results of the study improve the understanding of the clinical and histological characteristics of ACC, as well as the behavior of lesions. In addition, the analysis showed that EZH2 is a potential marker of malignancy and highlights the importance of validating molecular markers of epigenetic alterations.

Identification of MicroRNA Expression Profiles Related to the Aggressiveness of Salivary Gland Adenoid Cystic Carcinomas.

Adenoid cystic carcinoma (ACC) has been reported as the second most common carcinoma of the salivary glands. Few studies have associated miRNA expression with ACC aggressiveness. In this study, we evaluated the miRNA profile of formalin-fixed, paraffin-embedded (FFPE) samples of salivary gland ACC patients using the NanoString platform. We studied the miRNA expression levels associated with the solid growth pattern, the more aggressive histologic feature of ACCs, compared with the tubular and cribriform growth patterns. Moreover, the perineural invasion status, a common clinicopathological feature of the disease that is frequently associated with the clinical progression of ACC, was investigated. The miRNAs showing significant differences between the study groups were selected for target prediction and functional enrichment, which included associations with the disease according to dedicated databases. We observed decreased expression of miR-181d, miR-23b, miR-455, miR-154-5p, and miR-409 in the solid growth pattern compared with tubular and cribriform growth patterns. In contrast, miR-29c, miR-140, miR-195, miR-24, miR-143, and miR-21 were overexpressed in patients with perineural invasion. Several target genes of the miRNAs identified have been associated with molecular processes involved in cell proliferation, apoptosis, and tumor progression. Together, these findings allowed the characterization of miRNAs potentially associated with aggressiveness in salivary gland adenoid cystic carcinoma. Our results highlight important new miRNA expression profiles involved in ACC carcinogenesis that could be associated with the aggressive behavior of this tumor type.

Value of cytopathology in the diagnosis of adenoid cystic carcinoma and an analysis of misdiagnoses

BackgroundThe diagnosis of adenoid cystic carcinoma (ACC) by cytopathology can be challenging. This study was aimed at testing the effectiveness of this technique and at assessing possible differences in the coincidence rate of fine-needle aspiration cytology(FNAC) and brush exfoliation.MethodsThe pathology database of Southwest Medical University( Luzhou, China) was searched for patients who had undergone surgery or biopsy for ACC between January 2017 and January 2022 and had preoperative cytopathologic results. Their cytologic and histologic data were then analyzed retrospectively and the coincidence rates of cytopathology in the diagnosis of ACC were calculated.ResultsCompared with histopathology, the total coincidence rate of the cytologic diagnosis of ACC was 76.8%, that of FNAC was 78.9%, and that of brush exfoliation was 55.6%.ConclusionIn the diagnosis of ACC, cytopathology is an effective tool; this is especially true of FNAC, which plays an important role in the diagnosis of ACC. The authors further suggest that it is advisable for diagnosticians to master the cytopathological features of ACC to reduce the possibility of preoperative misdiagnoses.

Functional profiles of curatively treated adenoid cystic carcinoma unveil prognostic features and potentially targetable pathways

Adenoid cystic carcinoma (ACC) of salivary gland is a slowly growing tumor showing a propensity for delayed recurrence, with decreased survival rates. The identification of poor prognosis patients may help in defining molecular-based targeted strategies in this rare disease orphan of new treatments. Through a gene expression microarray-based approach followed by GSE functional analysis the expression profile of 46 primary untreated ACC samples and of ACC (h-TERT) tumor cells was analyzed. Patients who experienced early relapse showed enrichment in proliferation-related gene sets, including the G2-M checkpoint, E2F and myc targets, and in gene sets related to IFN signaling and aberrant proteostasis (FDR < 0.1), indicating increased mitotic and transcriptional activity in aggressive ACC. Similar functions were enriched in ACC samples classified by immunohistochemical staining as p63-negative, which exhibited increased protein burden and activation of pro-survival stress response pathways compared to p63-positive tumors. Compared to ACC tissues, ACC (h-TERT) cells share transcriptional features of aggressive p63-negative tumors. These data suggest association of specific pathway alterations with histopathological features of ACC, as recapitulated by p63 testing in patient prognostic stratification, anticipating new avenues for therapeutic intervention.

Study on the Clinicopathological Characteristics of Adenoid Cystic Carcinoma of the Breast

Adenoid cystic carcinoma of the breast (BACC) is a rare type of invasive ductal breast cancer. The present study aimed to determine the clinicopathological characteristics of BACC in order to determine markers for accurate diagnosis and prognosis. A retrospective analysis of clinicopathological characteristics was conducted in 28 cases of BACC and 30 cases of nonspecific invasive breast cancer which served as the controls. All BACC patients were female, aged from 42 to 63 years. No lymph node metastasis, as well as nerve and lymphovascular invasion, was found in the BACC group. Twenty BACC cases showed classical tubular or cribriform structure, while eight other cases showed tumors of solid variant with obvious atypical cells that were proliferating with frequent mitosis. Epithelial and myoepithelial markers such as cytokeratin 7, CD117, epidermal growth factor receptor, and P63 were expressed in BACC cases. MYB was expressed in 26 BACC cases. Local recurrence happened in two BACC cases who were tested positive for nuclear protein 1 (NUPR1) during a 10 – 84-month follow-up. The expression of MYB and NUPR1 had a significant difference between the two groups (P &lt; 0.001). In conclusion, the present study showed that BACC is associated with low invasive characteristics and relatively inert biological behavior on the account of the vast majority of BACC cases which were tested negative for NUPR1. The study also implied that NUPR1 is an indicator of poor prognosis of the tumor. Meanwhile, our study also corroborated the significance of MYB expression for its discriminatory role in BACC diagnosis and differential diagnosis. Therefore, these cases are generally not advocated for chemotherapy, but rather, they are expected to be treated with MYB-targeted therapy.

Management of Adenoid Cystic Carcinoma of the Breast: A Single-Institution Study.

ObjectiveThe purpose of our study was to analyze the clinicopathologic features and surgical and oncological outcomes of adenoid cystic carcinoma (ACC) of the breast and to provide the basis for a clinical therapeutic schedule.MethodsA total of 14 patients with primary breast adenoid cystic carcinoma treated at Cancer Hospital of the Chinese Academy of Medical Sciences from January 2000 to December 2017 were included. Data on clinical presentation, treatment strategy, and outcome, as well as the pathological features of ACC, were reviewed and analyzed.ResultsFourteen patients were diagnosed with ACC of the breast, out of 23205 total patients treated for breast cancer (0.06%). All but three patients were postmenopausal, with a median age at diagnosis of 60.5 years (range, 39–73 years). The most common clinical presentation was a palpable mass (85.7%), and the imaging characteristics of all patients on color Doppler ultrasound and mammography were nonspecific. Six patients (42.9%) were suspected of having ACC by fine-needle aspiration cytology (FNAC) and were confirmed by postoperative histology and immunohistochemistry. All 14 patients underwent surgery, and no patient had a positive lymph node status. Median tumor size was 1.75 cm (range, 1–3 cm). Eight/14 (57.1%) patients were hormone receptor negative (HR−) and HER-2/neu (−) (HER2−). The remaining patients were hormone receptor positive (HR+). There was no significant difference in clinicopathological characteristics between the HR+ group and the HR- group (P>0.05). The mean follow-up period was 57 months. Local recurrence occurred in 14.3% of patients, 1.7% of patients had distant metastasis, all patients with local recurrence or distant metastasis were in the HR (-) group, and all patients were alive at the last follow-up.ConclusionACC of the breast cannot be simply summarized as triple-negative breast cancer because it also includes a small number of hormone receptor-positive breast cancers. Establishing a preoperative diagnosis is difficult on the basis of clinical imaging examination, FNAC may be useful tool in the diagnosis. the final diagnosis can only be assessed based on the results of the histopathological and immunohistochemical examination. Breast-conserving surgery may be an alternative treatment strategy, and axillary lymph node dissection or sentinel node biopsy may not be necessary in some cases.

Clinical characteristics and treatment outcome of adenoid cystic carcinoma in the external auditory canal

BackgroundThis study reviewed the clinical manifestations, pathological findings, and treatment outcomes of adenoid cystic carcinoma (ACC) in the external auditory canal (EAC). MethodsThis was a retrospective review of 12 patients with a diagnosis of ACC in the EAC seen in a single institution over a 30-year period. Data on the demographics, clinical presentation, treatment strategy, and outcome, as well as the pathological features of ACC, were reviewed and analyzed. ResultsThe male-to-female ratio was 1:3 and the mean patient age was 55.9 years. The most common clinical presentation was otalgia (75%). Ten patients underwent surgical interventions, including radical mastoidectomy in five patients, wide excision in three, and lateral temporal bone resection in two. Adjuvant radiotherapy or concurrent chemoradiotherapy (CCRT) was performed in case of incomplete resection. Two patients underwent non-surgical treatments: radiotherapy in one and CCRT in the other. Microscopic perineural invasion was not associated with otalgia or histological subtype. The mean follow-up period was 84.6 months. Local recurrence occurred in 33% of patients. One-quarter of patients had distant metastasis, and all had lung metastasis. The 5-year overall survival rate for these patients was 82.5%. ConclusionEAC ACC should be included in the differential diagnosis when a patient presents with otalgia and a mass in EAC for more than 6 months, particularly if the patient is a middle-aged female. Otalgia might not be associated with perineural invasion or histological subtype. The lung is the most common site of distant metastasis in patients with EAC ACC. Further studies should determine the optimal treatment protocol for this rare malignancy.

Clinicopathological Features of Adenoid Cystic Carcinoma: An Institutional Perspective

Introduction: Adenoid cystic carcinoma is a rare salivary gland malignancy that can occur in any part of the body, its clinicopathologic features are scarcely reported in locoregional literature. Therefore, in this study we aimed to evaluate the clinicopathologic features of adenoid cystic carcinoma in our population and to determine the association of age and site of its occurrence with histologic pattern and perineural invasion. Methods: We retrospectively analyzed 30 cases of adenoid cystic carcinoma that underwent surgical resections or biopsies from March 2009 to February 2020 at Liaquat National Hospital and Medical College, Karachi. Clinical and histopathological parameters including age, site, histological pattern and perineural invasion were determined and association between different parameters was analyzed. Results: Mean age of the patients was 30 + 16.1 years. Cribriform pattern was most common histologic pattern (63.3%) while head and neck region was the most common site of occurrence (83.3%). Perineural invasion which is one of the most important prognostic factors in adenoid cystic carcinoma was present in approximately half of the patients (46.7%). No significant association of age and site was found with histologic pattern and perineural invasion. Conclusion: Adenoid cystic carcinoma is a rare malignancy most commonly occurring in head and neck region with a high frequency of perineural invasion. No significant difference of histologic pattern and histologic prognostic parameter like perineural invasion was noted at different ages and different sites in our study.

Computed tomographic features of adenoid cystic carcinoma in the palate

BackgroundTo evaluate the computed tomographic features and create a prediction model for clinical diagnosis of adenoid cystic carcinoma (ACC) in the palate with intact mucosa.MethodsFrom March 2016 to May 2018, 102 patients with palatal tumors and intact mucosa, including 28 patients with a pathological diagnosis of ACC after surgery, were enrolled in this study. The patients’ clinical symptoms, computed tomographic features and pathological diagnoses were recorded and analyzed. Independent predictors of ACC were determined by using univariate analysis and multivariate logistic regression, and the discrimination and calibration of the prediction model was evaluated, and internal validation was performed.ResultsUnivariate analysis of patients showed that ACC patients were more likely than non-ACC patients to be older (P = 0.019); to have palatine bone destruction (P<0.001) and greater palatine foramen (GPF) enlargement (P<0.001); to have involvement of the pterygopalatine fossa (P<0.001), foramen rotundum (P<0.001), nasal cavity (P<0.001) and maxillary bone (P<0.001); and to have numbness (P = 0.007) and pain (P<0.001). Multivariate logistic analysis showed that age and GPF enlargement were independent predictors of ACC in palatal tumors. The diagnostic prediction model showed good discrimination and calibration, as evaluated by the area under the receiver operating characteristic curve (0.98) and the Hosmer-Lemeshow goodness-of-fit test (P = 0.927).ConclusionsThe palate ACC prediction model based on age and GPF enlargement shows excellent discrimination with no evidence of poor calibration. Older patients with palatal tumors and intact mucosa should be considered for ACC when they have GPF enlargement.

Clinicopathological Correlation of Adenoid Cystic Carcinoma: A Notorious Masquerader and Clinical Paradox

Abstract Background: Adenoid cystic carcinoma (ACC) is an uncommon tumor with nonspecific clinicoradiological features thereby masquerading other nonneoplastic and neoplastic entities. Materials and Methods: Cases of ACC were retrospectively reviewed over a period of 4 years. The clinical details of these patients including fine-needle aspiration cytology (FNAC) and imaging findings were retrieved. Diagnosis was confirmed on histomorphology and supplemented with immunohistochemistry (IHC). Results:: Thirty cases of ACC were included in the study. Mean patient age was 55.5 years with a slight female preponderance. Among the 30 ACCs, 10 (33.4%) were located in submandibular gland, 7 (23.4%) in parotid gland, 6 (20%) in sublingual gland, 2 (6.7%) in lung and one each (3.33%) in nasal cavity, breast, cervix, lip, and skin of face. Preoperative imaging was suggestive of malignancy in 29 cases while a single case of parotid gland ACC was misdiagnosed as benign salivary gland neoplasm. FNAC was performed in 29 cases with a diagnostic accuracy of 82.7%. Histopathological examination showed characteristic features of ACC in all cases with perineural invasion seen in 7 cases. On IHC, positivity for cytokeratin was seen in all cases, cluster of differentiation 117 in 24 cases, thyroid transcription factor-1 in two cases and human epidermal growth factor receptor/neu in two cases. All cases were negative for estrogen receptor and progesterone receptor IHC. Mean Ki-67 score was 47.8%. Conclusion: ACCs are notorious tumors showing slow growth kinetics with propensity for perineural invasion, late recurrences, and distant metastasis. It should be kept in mind as a differential diagnosis at unusual sites other than salivary glands.

Molecular features of adenoid cystic carcinoma with an emphasis on microRNA expression.

Molecular features of adenoid cystic carcinoma with an emphasis on microRNA expression.

Sinonasal adenoid cystic carcinoma-role of on-site FNAC: a case report

BackgroundAdenoid cystic carcinoma (ACC), a rare tumor of epithelial cell origin, commonly arises from the major salivary glands. Uncommonly it may be found outside the salivary glands and it's especially rare in the nasal cavity.Case presentationA 71-year female had complaints of swelling at the base of nose, Fine needle aspiration (FNA) from the swelling revealed features of adenoid cystic carcinoma; cell block & IHC for CD-117 was positive.ConclusionsSino-nasal ACC (SNACC) continues to pose diagnostic and therapeutic challenges to clinicians. Due to its rarity & vague presentation, early diagnosis requires a high index of suspicion. FNA can be used as an invaluable diagnostic tool in the evaluation of these lesions. Since it’s incidence in sinonasal region is rare; our attempt to report this case will heighten the physician’s awareness of this disease, helping further treatment.

Cytologic diagnosis of adenoid cystic carcinoma of salivary glands and distinction from basal cell adenoma

Objective: To describe the cytologic features of adenoid cystic carcinoma (ADCC) of salivary glands, and to identify distinguishing cytologic features of ADCC and basal cell adenoma (BCA). Methods: A retrospective review of cytology smears of 30 cases of ADCC and 12 cases of BCA of salivary glands were performed. All cases were collected from Beijing Tongren Hospital, Capital Medical University from January 2010 to January 2017. Except for 2 aspirate smears of ADCC, all were touch imprint smears. All cases had further histological confirmation. Results: Neoplastic ductal cells of ADCC were arranged in three-dimensional clusters, sheets and singles. Hyaline globules were found in most cases (20/30, 66.7%). The nuclei were round to oval, showing varying degrees of nuclear atypia. These included (1) the nuclei were hyperchromatic, demonstrating coarse or slightly coarse, irregularly distributed chromatin; (2) the nuclei were slightly large and vary in size; (3) appearance of the nuclei had a different degree of irregularity (often mild). Nucleoli were common seen (21/30, 70.0%), and were prominent in some cases. Mitosis and necrosis were rare. Cytologically, BCA showed cell arrangements and nuclear features overlapped with those of ADCC. The cytologic difference between these two tumors included: (1) the tumor cells presented rarely in singles; (2) hyaline globules were very uncommon (1/12) in BCA; (3) nuclei of BCA were hypochromatic or slightly hyperchromatic, homogeneous and uniform in appearance and size, overall without nuclear atypia and they were smaller and slender then those of ADCC and (4) individual cells of BCA showed relatively abundant cytoplasm. Conclusions: The cytologic features of ADCC and BCA both overlap and different from each other. Most cases can be diagnosed by cytologic examination. The presence of hyaline globules is an important diagnostic clue of ADCC, although not pathognomonic. Nuclear atypia of neoplastic ductal cells is an essential cytological feature in the diagnosis of ADCC, and is the most reliable point for differential diagnosis of ADCC and BCA.

Clinicopathologic features of adenoid cystic carcinoma of breast

Objective: To investigate the clinicopathologic features and grading of adenoid cystic carcinoma (ACC) of the breast. Methods: Sixteen cases of ACC of the breast were analyzed and graded according to the previous report. Immunohistochemical (IHC) staining was used to detect the immunophenotype, Ki-67 proliferative index and expression of EZH2, and the association with tumor grade and outcome was analyzed. Results: Of the 16 cases, 11 were grade Ⅰ, with the epithelial and myoepithelial cells being arranged into tubular and cribriform structure with no solid component; three were grade Ⅱ, which were composed of mixed tubular, cribriform and solid component (<30%); and two were grade Ⅲ, which showed mainly solid component (>90%) and the tumor cells showed basaloid features with scanty cytoplasm and hyperchromatic nuclei, and mitotic count was>5/10 HPF. Immunophenotypically, the epithelial cells expressed CK7, CK8/18 and CD117; the myoepithelial cells expressed p63 and CK5/6; while the basaloid cells were positive for CK5/6 and CD117.Tubular and cibriform ACC showed low Ki-67 and EZH2 expression, while the two cases of solid variant with basaloid features showed high level of Ki-67 and EZH2 expression. Follow-up data were available in 13 cases with a median follow-up period of 42 months. Lung metastasis occurred after 12 months in one grade Ⅱ case and the patient died of disease after 34 months. Vertebral metastasis occurred after 12 months in one grade Ⅲ case and axillary lymph node metastasis occurred in another grade Ⅲ case. All other patients were free of disease at the end of the follow-up periods. Conclusions: ACC shows morphologic spectrum varying from low to high grade, the latter can may give rise to local and distant metastasis. ACC should not be regarded simply as low malignant potential, and should be graded for optimal treatment.

Abstract 3983: Highly sensitive detection of MYB-NFIB fusion transcripts in adenoid cystic carcinoma

Abstract In recent years, the understanding of genomic events underlying head and neck cancer has significantly advanced. Several of the newly discovered genomic aberrations observed in salivary gland neoplasms were found to be recurrent and uniquely associated with specific disease entities. Adenoid cystic carcinoma (ACC), one of the most common salivary gland malignancies, demonstrates a particular challenge in head and neck oncology due its relentless growth, high local recurrence rate and poor long-term prognosis. Recent identification of the MYB-NFIB gene fusion as a recurrent and pathognomonic feature of ACC created new opportunities for the molecular diagnostics of this malignancy. Liquid biopsy techniques coupled with droplet digital PCR (ddPCR) platform may be feasible aiming for non-invasive detection of disease-specific genetic markers such as gene fusions. Given the prevalence of MYB-NFIB transcript in ACC, detection of the fusion event in patients’ saliva may present a unique opportunity for an accurate diagnostics as well as for long-term patient monitoring. Our goal is to develop a highly-sensitive ddPCR-based assay that would precisely detect and identify MYB-NFIB transcripts in tumor tissue and patients’ bodily fluids. RNA sequencing (RNAseq) performed in fresh frozen ACC samples identified MYB-NFIB fusion in 56% (10/18) of the cases and revealed large variability in MYB gene break sites and alternative splicing of NFIB component. 84% of ACC cases demonstrated high expression of 5’ MYB fragment by ddPCR based RT-PCR, 62.5% of which were MYB-NFIB fusion positive in RNAseq. We developed a panel of RT-PCR assays to detect a range of different MYB-NFIB transcripts observed by our RNAseq data and/or previously reported. We identified all ACC cases harboring the most commonly reported MYB-NFIB fusions (9/9) and validated the fusion products with conventional Sanger sequencing. Additionally, our preliminary results indicate that the assays are feasible for PCR multiplexing retaining the high sensitivity and specificity observed in singleplex experiments. Evaluation of the assay performance in ddPCR and assessing the detection limit is currently in progress. Once the methodology is validated, we will be able to evaluate a cohort of salivary gland neoplasms and matched RNA samples isolated from saliva. The detection of MYB-NFIB fusion in bodily fluids using a highly sensitive ddPCR platform will open a new avenue for the diagnosis and the clinical management of patients with ACC. Furthermore, our work creates the possibility of a liquid biopsy-based detection of other disease-specific gene fusions increasingly identified in different solid tumors. Citation Format: Piotr T. Wysocki, Shizhang Ling, Chunbo Shao, Marietta Tan, David Sidransky, Patrick Ha, Mariana Brait. Highly sensitive detection of MYB-NFIB fusion transcripts in adenoid cystic carcinoma. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 3983.

Adenoid cystic carcinoma of the upper lip: A case report and review of literature

Adenoid cystic carcinoma (ACC) is a rare malignant neoplasm of the salivary glands. Although it is a slow-growing malignant tumor, it carries a poor prognosis due to aggressive nature of tumor and a high rate of recurrence. It usually affects elderly patients, and the peak incidence is in the fifth and sixth decades with a female preponderance. Perineural invasion along cranial nerves is a pathognomonic feature of ACC and is believed to be responsible for the high rate of local recurrence. Surgery is the treatment of choice, but some cases may require radiation therapy after surgery. Rarely, chemotherapy may also be required to control the disease. This report pertains to a rare case of ACC of the upper lip managed by excision and primary reconstruction of the lip with gratifying postoperative results.

Performance Characteristics of Adenoid Cystic Carcinoma of the Salivary Glands in Fine-Needle Aspirates: Results From the College of American Pathologists Nongynecologic Cytology Program.

Although the cytomorphology of adenoid cystic carcinoma (ACC) has been well described, the accuracy of this diagnosis in fine-needle aspirates (FNAs) of the salivary glands has not been extensively evaluated. To assess participants' responses in the College of American Pathologists (CAP) Nongynecologic Cytology (NGC) Program to determine the accuracy and false-negative rate of ACC cases in salivary gland FNAs. A retrospective review of the CAP NGC Program's cumulative data from 2000-2010 was performed for the general and the specific reference diagnosis categories for ACC in salivary gland FNAs according to preparation and participant types. Of 5156 responses, the overall concordance rates for both the general category of malignancy and the specific category of ACC were 63.6% (3279 of 5156) and 38.6% (1966 of 5088), respectively, with a false-negative rate of 36.4% (1877 of 5156). The most frequent false-negative responses were pleomorphic (1080) and monomorphic (526) adenoma (1614 of 5088, 31.5%), while lymphoma was the most frequent malignant misinterpretation. There was a significant statistical difference in concordance to the reference interpretation between the reader types: 39.9% (1006 of 2521) concordance rate for pathologists compared to 33.8% (503 of 1488) for cytotechnologists. However, there was no significant statistical difference for concordance to the general category or reference interpretation, based on preparation type (Papanicolaou versus modified Giemsa stained). In this interlaboratory comparison educational program, accurate identification of ACC has shown to be problematic, with ACC representing an important cause of false-negative responses. The most common diagnostic pitfall is distinguishing this entity from pleomorphic and monomorphic adenoma in the benign category and from lymphoma and adenocarcinoma in the malignant one.

Distinct Clinical and Microscopic Features of Adenoid Cystic Carcinoma: 3 Case Reports

Adenoid cystic carcinoma (ACC) is a malignant, slow-growing neoplasm and is usually fatal. It represents 10-15% of salivary gland malignancies, and nearly half of all cases of ACC occur in the minor salivary gland. We report 3 cases of ACC in patients who were distinct in terms of demographic characteristics, as well as in terms of the location, clinical profile, and radiographic features of the ACC: a 49-year-old female presenting with swelling of the buccal mucosa; a 25-year-old female presenting with an ulcerated lesion in the hard palate, without radiographic findings; and a 49-year-old male complaining of a painful lump in the mandible, which was identified as a large osteolytic lesion with irregular margins, extending to the mandibular body and ramus. Histopathological examination revealed a biphasic neoplasm composed of a dual population (ductal and myoepithelial cells) with tubular, cribriform, or solid growth patterns. In all cases, the lesions were resected with wide surgical margins, and different prognoses were established. Clinical, radiographic, and microscopic features are discussed.