Analysis of Amplified Genes in Samples of Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma by CGH-Array Technique

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S51-S51
Author(s):  
Erika Egal ◽  
Welligton Sabino ◽  
João Scarini ◽  
Reydson Souza ◽  
Albina Altemani ◽  
...  

Abstract Introduction Pleomorphic adenoma (PA) is a benign lesion of the salivary glands that can suffer malignant transformation to carcinoma ex adenoma pleomorphic (CXPA). The pathogenesis of CXPA has been attributed to the accumulation of genetic disorders in preexisting PAs. However, there is no confirmation whether there is a common target gene involved in all histopathological subtypes or the decisive factors for malignant transformation in a histopathological subtype are specific. Objectives To further analyze genes found in PA and CXPA using the CGH-array technique. The genes found were analyzed using the InteractiVenn virtual tool (http://www.interactivenn.net/) and grouped into a Microsoft Excel worksheet. Results: Of the 460 genes amplified in the studied samples, 287 (62.4%) were related only to CXPA, whereas 144 (31.3%) were related to residual PA. Twenty-nine (6.3%) of these genes were common between residual PA and CXPA. Regarding the degree of invasion of CXPA, there was an increase in the number of genes amplified as the degree of invasion and aggression increased: 8 genes related to intracapsular CXPA, 65 to minimally invasive CXPA, and 373 to weakly invasive. Moreover, when comparing residual AP and intracapsular CXPA, two genes were common to these groups: ERRB2 and GRB7. As for the histological subtype, the high-grade samples had more amplifications (320 amplified genes) than the low-grade ones (129 genes). Three of these genes were common among residual PAs and CXPA: HMGA2, RPSAP52, and LOC100129940. As for the replicates, MYNC, ERBB2, BRIP1, and HMGA2 were the most repeated amplified genes in the residual PAs. HMGA2, ERRBB2, CDK12, RPSAP52, LOC100129940, and LOC100507250 were the genes with the most replicates in CXPA. Conclusion HMGA2, ERRB2, and RPSAP52 may play a key role in PA carcinogenesis, whereas GRB7, CDK12, MYNC, and BRIP1 appear to act as coadjutants.

2016 ◽  
Vol 57 ◽  
pp. 152-159 ◽  
Author(s):  
Beatriz Samara de Brito ◽  
Natália Giovanelli ◽  
Erika Said Egal ◽  
Celeste Sánchez-Romero ◽  
Juliana de Souza do Nascimento ◽  
...  

2019 ◽  
Vol 8 (1) ◽  
pp. 52-55
Author(s):  
Paulina Szabelska ◽  
Anna Rzepakowska ◽  
Benedykt Szczepankiewicz ◽  
Elżbieta Niemczyk ◽  
Ewa Osuch-Wójcikiewicz ◽  
...  

A multiform adenoma is the most commonly diagnosed benign tumor of the salivary glands. In the majority of patients, surgical resection of the tumor with the adequate surrounding tissue of salivary gland allows for complete recovery. A small percentage of the cases is a recurring pleomorphic adenoma. Even more rarely the diagnosis of carcinoma ex pleomorphic adenoma is made. The study presents two clinical cases of the malignant transformation of pleomorphic adenoma into the myoepithelial carcinoma. The surgical treatment and additional radiotherapy were performed in both cases.


2013 ◽  
Vol 28 (1) ◽  
pp. 24-27
Author(s):  
Sudipta Pal ◽  
Sampurna Pati ◽  
Somnath Saha ◽  
Vedula Padmini Saha

Objective: To present a case of carcinoma ex pleomorphic adenoma in the parapharyngeal space and discuss its management.   Methods: Design:            Case Report Setting:           Tertiary Government Teaching Hospital Subjects:         One   Results:  A 40-year-old male patient with dysphagia for three months and a left-sided mucosa-covered oropharyngeal mass was found to have a prestyloid parapharyngeal lesion on CT Scans. Fine Needle Aspiration Cytology (FNAC) revealed a pleomorphic adenoma. With a past history of parapharyngeal pleomorphic adenoma excised transorally three years before, the present mass was excised by mandibular swing approach. Post-operative recovery was uneventful, but the final histopathological report was carcinoma ex pleomorphic adenoma.   Conclusion: Malignant transformation should be suspected in recurrent salivary tumors in the parapharyngeal space. Provided there was truly no pre-existing malignant focus in the originally-excised tumor, and that early recurrence was not due to inadequate initial excision, this patient had a rare condition where the same tumor underwent malignant transformation within 3 years only. To the best of our knowledge, such an early transformation to malignancy of a minor salivary gland tumor of the parapharyngeal space has not been reported in the English literature.   Keywords: carcinoma ex pleomorphic adenoma, pleomorphic adenoma, carcinoma,  parapharyngeal space, malignant, transformation, minor salivary gland tumor,  mandibular swing


2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S135-S136
Author(s):  
Erika Egal ◽  
Joao Scarini ◽  
Larissa Fernandes ◽  
Welligton Sabino ◽  
Reydson Souza ◽  
...  

Abstract Introduction The carcinoma ex pleomorphic adenoma (CXPA) arises from a pleomorphic adenoma (PA) and is supposed to gain lipogenesis and glycogenesis during its malignant transformation. Increased lipogenesis is a characteristic of cancer cells, consisting of increased fatty acid synthesis by the enzyme fatty acid synthase (FASN) and by the accumulation of cytoplasmic lipid droplets, which express adipophilin. The increase in glycolytic metabolism has been associated with the activity of glycolytic enzymes and glucose transporters (GLUTs), whose expression is induced by HIF-1 (inducing factor of hypoxia 1). Objectives To analyze the gene expression of FASN, adipophilin, HIF-1α, and GLUT-1 in PA and CXPA samples. Methodology Gene expression analysis of the FASN, adipophilin, HIF1-α, and GLUT-1 genes was performed by the real-time PCR (qPCR) method. Fourteen cases of PA and 14 cases of CXAP were evaluated. Results FASN, adipophilin, HIF-1α, and GLUT-1 were more expressed in CXAP than in AP, although there was no significant difference between levels of adipophilin expression in CXPA and PA. Conclusion Increased expression of FASN, HIF1-α, and GLUT-1 in CXAP may be associated with malignant transformation of PA, while additional studies are needed to understand the role of adipophilin in PA carcinogenesis. Moreover, this is the first study to investigate the role of these genes in the malignant transformation of PA.


2021 ◽  
pp. jclinpath-2021-207440
Author(s):  
Ewelina Bartkowiak ◽  
Krzysztof Piwowarczyk ◽  
Magdalena Bodnar ◽  
Paweł Kosikowski ◽  
Jadzia Chou ◽  
...  

AimsThe aim of the study is to correlate p16Ink4a expression with the clinical courses of pleomorphic adenoma (PA), its malignant transformation (CaexPA) and treatment outcomes.MethodsRetrospective analysis (1998–2019) of 47 CaexPA, 148 PA and 22 normal salivary gland samples was performed. PAs were divided into two subsets: clinically ‘slow’ tumours characterised by stable size or slow growth; and ‘fast’ tumours with rapid growth rate.ResultsPositive p16Ink4a expression was found in 68 PA and 23 CaexPA, and borderline expression in 80 and 20, respectively. All 22 (100%) normal salivary gland samples presented with no p16Ink4a expression. Significant difference in p16Ink4a expression was observed between normal tissue, PA and CaexPA (χ2 (4)=172,19; p=0.0001). The PA clinical subgroups were also evaluated separately, revealing additional statistical relations: ‘fast’ PA and CaexPA differed significantly in p16Ink4a expression (χ2 (2)=8.06; p=0.01781) while ‘slow’ PA and CaexPA did not (χ2 (2)=3.09; p=0.2129). 3-year, 5-year and 10-year survival among p16Ink4a positive CaexPA patients was 100%, 90.56% and 60.37%, respectively, and in CaexPA patients with borderline p16Ink4a expression was 90.0%, 73.64% and 22.20%, respectively. Statistically significant difference between expression pattern and survival rate was observed (F Cox test – F (16, 24)=2.31; p=0.03075).ConclusionsOur study confirms no p16Ink4a expression in normal tissue, but reveals differences in expression between ‘fast’ and ‘slow’ PA. We suggest that p16Ink4a overexpression is connected to PA proliferation and subsequent malignant transformation to CaexPA. Borderline p16Ink4a staining correlates with worse prognosis of CaexPA.


2019 ◽  
Vol 12 ◽  
pp. 2632010X1987338
Author(s):  
Ana Amélia de Souza ◽  
Albina Altemani ◽  
Ney Soares de Araujo ◽  
Lucas Novaes Texeira ◽  
Vera Cavalcanti de Araújo ◽  
...  

Pleomorphic adenoma (PA) is the most common salivary gland neoplasm and, although mostly benign, recurrences, being called recurrent pleomorphic adenoma (RPA) and malignant transformation to carcinoma ex pleomorphic adenoma (CXPA), do occur. Recently, attention has been focused on molecular targeted cancer therapy in various tumors, including salivary gland tumors. The aim of this study was to investigate the role of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER-2) in PA, RPA, and CXPA. In total, 20 cases of PA, 18 of RPA, and 7 cases of CXPA were immunohistochemically studied for ER, PR, and HER-2. For evaluation of ER and PR, only nuclear expression and greater than 10% positive cells were regarded as cutoff criteria. HER-2 was evaluated semiquantitatively and graded from 0 to 3+. HER-2 amplification was assessed by chromogenic in situ hybridization (CISH). Tumors were negative for ER, PR, and HER-2 in all cases of PA and RPA. A case of CXPA showed moderate and complete membranous staining, and 6 cases were negative. HER-2 amplification was not observed in any case. In conclusion, the lack of ER, PR, and HER-2 expression in PA, RPA, and CXPA suggests that these proteins are not involved in progression, recurrence, or malignant transformation of PA.


2015 ◽  
Vol 16 (2) ◽  
pp. 118-121 ◽  
Author(s):  
SM Khodeza Nahar Begum ◽  
M Alamgir Chowdhury ◽  
Afroza Suraya Mojumder ◽  
Omid Khan

Pleomorphic adenoma, though essentially benign can undergo malignant transformation. This is the case report of a 72 year old male with a giant tumor of parotid gland measuring 20.0X18.0X16.5cm & weighing 7 kg. Pleomorphic adenoma can rarely transform into carcinoma ex pleomorphic adenoma over time as it enlarges; moreover, histologically, squamous cell carcinoma (SCC) is exceedingly rare. Patient developed the tumor for a period over 20 years & it caused withdrawal from social contact. The tumor gradually enlarged without any pain or other complication except for rapid growth & pain a year before. Postoperative facial function and local control of tumor was achieved. Despite Of having a cancer with significant extracapsular invasion, our patient did not present any metastatic focus. Besides morphological patterns, authors need to categorize invasive carcinoma ex pleomorphic adenoma according to its potentiality to metastasize. Various parameters which can predict malignant transformation in pleomorphic adenoma is also yet to be explored.J MEDICINE July 2015; 16 (2) : 118-121


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