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https://www.readbyqxmd.com/read/27859477/primary-cutaneous-adenoid-cystic-carcinoma-with-myb-aberrations-report-of-three-cases-and-comprehensive-review-of-the-literature
#1
Carlos N Prieto-Granada, Lei Zhang, Cristina R Antonescu, Jean M Henneberry, Jane L Messina
Adenoid cystic carcinoma (ACC) is a relatively rare slow-growing and often-aggressive epithelial-myoepithelial neoplasm that arises in multiple organs including the skin. The t(6;9) (q22-23;p23-24) translocation, resulting in a MYB-NFIB gene fusion has been found in ACCs from the salivary glands and other organs. Recently, MYB aberrations occurring in a subset (40%) of primary cutaneous ACC (PCACC) examples was described. Herein, we report three additional cases of PCACC harboring MYB aberrations. The tumors presented in three males aged 43, 81 and 55 years old and affected the extremities in the first two patients and the scalp in the third one...
November 8, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27821319/a-phase-ii-study-of-sorafenib-in-recurrent-and-or-metastatic-salivary-gland-carcinomas-translational-analyses-and-clinical-impact
#2
L D Locati, F Perrone, B Cortelazzi, C Bergamini, P Bossi, E Civelli, C Morosi, S Lo Vullo, M Imbimbo, P Quattrone, G P Dagrada, R Granata, C Resteghini, A Mirabile, S Alfieri, E Orlandi, L Mariani, G Saibene, S Pilotti, L Licitra
BACKGROUND: Pre-clinical and clinical evidence suggests a rationale for the use of anti-angiogenic agents, including sorafenib, in recurrent and/or metastatic salivary gland carcinomas (RMSGCs). This study evaluates the activity of sorafenib in patients with RMSGCs and also investigates whether the activity of sorafenib could be related to its main tailored targets (i.e. BRAF, vascular endothelial growth factor receptor 2 [VEGFR2], platelet-derived growth factor receptor α [PDGFRα] and β, RET, KIT)...
November 4, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27662035/frequent-nfib-associated-gene-rearrangement-in-adenoid-cystic-carcinoma-of-the-vulva
#3
Deyin Xing, Salwa Bakhsh, Nataliya Melnyk, Christina Isacson, Julie Ho, David G Huntsman, C Blake Gilks, Brigitte M Ronnett, Hugo M Horlings
Adenoid cystic carcinoma is a rare malignant tumor that usually arises in the major and minor salivary glands and other locations containing secretory glands, including the lower female genital tract. Lower female genital tract carcinomas with adenoid cystic differentiation can be subclassified into 2 distinct groups based on the presence or absence of high-risk HPV. Cervical mixed carcinomas with some adenoid cystic differentiation are high-risk HPV-related but pure adenoid cystic carcinomas of vulvar and cervical origin appear to be unrelated to high-risk HPV...
September 22, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/27566443/a-phase-ii-study-of-axitinib-ag-013736-in-patients-with-incurable-adenoid-cystic-carcinoma
#4
A L Ho, L Dunn, E J Sherman, M G Fury, S S Baxi, R Chandramohan, S Dogan, L G T Morris, G D Cullen, S Haque, C S Sima, A Ni, C R Antonescu, N Katabi, D G Pfister
BACKGROUND: Recurrent/metastatic adenoid cystic carcinoma (ACC) is an incurable disease with no standard treatments. The majority of ACCs express the oncogenic transcription factor MYB (also c-myb), often in the context of a MYB gene rearrangement. This phase II trial of the tyrosine kinase inhibitor (TKI) axitinib (Pfizer) tested the hypothesis that targeting pathways activated by MYB can be therapeutically effective for ACC. PATIENTS AND METHODS: This is a minimax two-stage, phase II trial that enrolled patients with incurable ACC of any primary site...
October 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27533466/adenoid-cystic-carcinoma-emerging-role-of-translocations-and-gene-fusions
#5
Piotr T Wysocki, Evgeny Izumchenko, Juliet Meir, Patrick K Ha, David Sidransky, Mariana Brait
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...
August 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27491809/genetic-events-in-the-progression-of-adenoid-cystic-carcinoma-of-the-breast-to-high-grade-triple-negative-breast-cancer
#6
Nicola Fusco, Felipe C Geyer, Maria R De Filippo, Luciano G Martelotto, Charlotte K Y Ng, Salvatore Piscuoglio, Elena Guerini-Rocco, Anne M Schultheis, Laetitia Fuhrmann, Lu Wang, Achim A Jungbluth, Kathleen A Burke, Raymond S Lim, Anne Vincent-Salomon, Masamichi Bamba, Suzuko Moritani, Sunil S Badve, Shu Ichihara, Ian O Ellis, Jorge S Reis-Filho, Britta Weigelt
Adenoid cystic carcinoma of the breast is a rare histological type of triple-negative breast cancer with an indolent clinical behavior, often driven by the MYB-NFIB fusion gene. Here we sought to define the repertoire of somatic genetic alterations in two adenoid cystic carcinomas associated with high-grade triple-negative breast cancer. The different components of each case were subjected to copy number profiling and massively parallel sequencing targeting all exons and selected regulatory and intronic regions of 488 genes...
November 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27213588/the-impact-of-the-myb-nfib-fusion-proto-oncogene-in-vivo
#7
Oliver R Mikse, Jeremy H Tchaicha, Esra A Akbay, Liang Chen, Roderick T Bronson, Peter S Hammerman, Kwok-Kin Wong
Recurrent fusion of the v-myb avian myelobastosis viral oncogene homolog (MYB) and nuclear factor I/B (NFIB) generates the MYB-NFIB transcription factor, which has been detected in a high percentage of individuals with adenoid cystic carcinoma (ACC). To understand the functional role of this fusion protein in carcinogenesis, we generated a conditional mutant transgenic mouse that expresses MYB-NFIB along with p53 mutation in tissues that give rise to ACC: mammary tissue, salivary glands, or systemically in the whole body...
May 31, 2016: Oncotarget
https://www.readbyqxmd.com/read/27185061/cutaneous-cylindroma-it-s-all-about-myb
#8
Gabriele Corda, Arturo Sala
Cutaneous cylindroma is a rare benign tumour that occasionally turns into malignant cylindrocarcinoma. The cancer can be sporadic or emerge in the context of Brooke-Spiegler syndrome (BSS), an inheritable condition characterized by mutation of the gene CYLD, encoding a tumour suppressor protein that controls the activity of the transcription factor NF-kB. Sporadic cylindromas present histological features shared with adenoid cystic carcinoma (ACC), a head and neck cancer originating from salivary or other exocrine glands...
August 2016: Journal of Pathology
https://www.readbyqxmd.com/read/26969893/overexpression-of-myb-drives-proliferation-of-cyld-defective-cylindroma-cells
#9
Neil Rajan, Mattias K Andersson, Naomi Sinclair, André Fehr, Kirsty Hodgson, Christopher J Lord, Dmitry V Kazakov, Tomas Vanecek, Alan Ashworth, Göran Stenman
Cutaneous cylindroma is an adnexal tumour with apocrine differentiation. A predisposition to multiple cylindromas is seen in patients with Brooke-Spiegler syndrome, who carry germline mutations in the tumour suppressor gene CYLD. Previous studies of inherited cylindromas have highlighted the frequent presence of bi-allelic truncating CYLD mutations as a recurrent driver mutation. We have previously shown that sporadic cylindromas express either MYB-NFIB fusion transcripts or show evidence of MYB activation in the absence of such fusions...
June 2016: Journal of Pathology
https://www.readbyqxmd.com/read/26888403/-research-progress-on-characteristic-myb-nfib-fusion-gene-in-adenoid-cystic-carcinoma
#10
Jie Ding, Jun Chen, Wei Li, Xiaofeng Huang
No abstract text is available yet for this article.
November 2015: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/26862087/whole-genome-sequencing-of-salivary-gland-adenoid-cystic-carcinoma
#11
Eleni M Rettig, C Conover Talbot, Mark Sausen, Sian Jones, Justin A Bishop, Laura D Wood, Collin Tokheim, Noushin Niknafs, Rachel Karchin, Elana J Fertig, Sarah J Wheelan, Luigi Marchionni, Michael Considine, Carole Fakhry, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, Patrick K Ha, Nishant Agrawal
Adenoid cystic carcinomas (ACC) of the salivary glands are challenging to understand, treat, and cure. To better understand the genetic alterations underlying the pathogenesis of these tumors, we performed comprehensive genome analyses of 25 fresh-frozen tumors, including whole-genome sequencing and expression and pathway analyses. In addition to the well-described MYB-NFIB fusion that was found in 11 tumors (44%), we observed five different rearrangements involving the NFIB transcription factor gene in seven tumors (28%)...
April 2016: Cancer Prevention Research
https://www.readbyqxmd.com/read/26851182/adenoid-cystic-carcinoma-can-be-driven-by-myb-or-mybl1-rearrangements-new-insights-into-myb-and-tumor-biology
#12
COMMENT
Thomas J Gonda, Robert G Ramsay
A majority of adenoid cystic carcinomas (AdCC)-rare tumors of the salivary gland and some other organs-have recently been found to be driven by chromosomal translocations resulting in MYB-NFIB fusions. Brayer and colleagues and Mitani and colleagues have now reported that AdCCs can alternatively be driven by similar rearrangements involving a second MYB family gene, MYBL1, and that these two drivers act in remarkably similar ways.
February 2016: Cancer Discovery
https://www.readbyqxmd.com/read/26631609/novel-mybl1-gene-rearrangements-with-recurrent-mybl1-nfib-fusions-in-salivary-adenoid-cystic-carcinomas-lacking-t-6-9-translocations
#13
Yoshitsugu Mitani, Bin Liu, Pulivarthi H Rao, Vishnupriya J Borra, Mark Zafereo, Randal S Weber, Merrill Kies, Guillermina Lozano, P Andrew Futreal, Carlos Caulin, Adel K El-Naggar
PURPOSE: Adenoid cystic carcinoma (ACC) is an indolent salivary gland malignancy, characterized by t(6;9) translocations and MYB-NFIB gene fusions in approximately 50% of the tumors. The genetic alterations underlying t(6;9)-negative and t(6;9)-positive/MYB-NFIB fusion-negative ACC remain unknown. To uncover the genetic alterations in ACC lacking the canonical translocation and fusion transcript and identify new abnormalities in translocation positive tumors. EXPERIMENTAL DESIGN: We performed whole-genome sequencing in 21 salivary ACCs and conducted targeted molecular analyses in a validation set (81 patients)...
February 1, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/26359351/adenoid-cystic-carcinoma-current-therapy-and-potential-therapeutic-advances-based-on-genomic-profiling
#14
REVIEW
Young Kwang Chae, Su Yun Chung, Andrew A Davis, Benedito A Carneiro, Sunandana Chandra, Jason Kaplan, Aparna Kalyan, Francis J Giles
Adenoid cystic carcinoma (ACC) is a rare cancer with high potential for recurrence and metastasis. Efficacy of current treatment options, particularly for advanced disease, is very limited. Recent whole genome and exome sequencing has dramatically improved our understanding of ACC pathogenesis. A balanced translocation resulting in the MYB-NFIB fusion gene appears to be a fundamental signature of ACC. In addition, sequencing has identified a number of other driver genes mutated in downstream pathways common to other well-studied cancers...
November 10, 2015: Oncotarget
https://www.readbyqxmd.com/read/26309189/histopathologic-and-cytogenetic-features-of-pulmonary-adenoid-cystic-carcinoma
#15
Anja C Roden, Patricia T Greipp, Darlene L Knutson, Sara M Kloft-Nelson, Sarah M Jenkins, Randolph S Marks, Marie Christine Aubry, Joaquín J García
INTRODUCTION: A significant portion of adenoid cystic carcinoma (ACC) cases are characterized by a t(6;9)(q22-23;p23-24) translocation that originates a MYB-NFIB fusion oncogene. The MYB-NFIB fusion oncoprotein activates transcription of MYB-mediated pathways that impact cell cycle control, DNA repair, and apoptosis. This translocation seems highly specific for ACC. Moreover, therapies targeting MYB-activated pathways to treat ACC are being explored. Pulmonary ACC (PACC) has not been thoroughly studied for rearrangements of the MYB gene...
November 2015: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/26095796/genomic-landscape-of-adenoid-cystic-carcinoma-of-the-breast
#16
Luciano G Martelotto, Maria R De Filippo, Charlotte K Y Ng, Rachael Natrajan, Laetitia Fuhrmann, Joanna Cyrta, Salvatore Piscuoglio, Huei-Chi Wen, Raymond S Lim, Ronglai Shen, Anne M Schultheis, Y Hannah Wen, Marcia Edelweiss, Odette Mariani, Göran Stenman, Timothy A Chan, Pierre-Emmanuel Colombo, Larry Norton, Anne Vincent-Salomon, Jorge S Reis-Filho, Britta Weigelt
Adenoid cystic carcinoma (AdCC) is a rare type of triple-negative breast cancer (TNBC) characterized by the presence of the MYB-NFIB fusion gene. The molecular underpinning of breast AdCCs other than the MYB-NFIB fusion gene remains largely unexplored. Here we sought to define the repertoire of somatic genetic alterations of breast AdCCs. We performed whole-exome sequencing, followed by orthogonal validation, of 12 breast AdCCs to determine the landscape of somatic mutations and gene copy number alterations...
October 2015: Journal of Pathology
https://www.readbyqxmd.com/read/26089205/a-subset-of-prostatic-basal-cell-carcinomas-harbor-the-myb-rearrangement-of-adenoid-cystic-carcinoma
#17
Justin A Bishop, Raluca Yonescu, Jonathan I Epstein, William H Westra
Adenoid cystic carcinoma (ACC) is a basaloid tumor consisting of myoepithelial and ductal cells typically arranged in a cribriform pattern. Adenoid cystic carcinoma is generally regarded as a form of salivary gland carcinoma, but it can arise from sites unassociated with salivary tissue. A rare form of prostate carcinoma exhibits ACC-like features; it is no longer regarded as a true ACC but rather as prostatic basal cell carcinoma (PBCC) and within the spectrum of basaloid prostatic proliferations. True ACCs often harbor MYB translocations resulting in the MYB-NFIB fusion protein...
August 2015: Human Pathology
https://www.readbyqxmd.com/read/26076064/detection-of-myb-alterations-and-other-immunohistochemical-markers-in-primary-cutaneous-adenoid-cystic-carcinoma
#18
COMPARATIVE STUDY
Jeffrey P North, Timothy H McCalmont, André Fehr, Annemieke van Zante, Göran Stenman, Philip E LeBoit
Adenoid cystic carcinoma (ACC) can arise in several organs, and prognosis is highly dependent on the primary tumor site. Primary cutaneous ACC has an excellent prognosis compared with salivary or lacrimal ACC. Activation of MYB by gene fusion or other mechanisms has been found in salivary, breast, and lacrimal ACCs but has not been described in cutaneous ACC. We analyzed the histopathologic and immunohistochemical features of 19 primary cutaneous ACCs, 2 periorbital ACCs, and 12 salivary gland ACCs and assessed for MYB activation in primary cutaneous ACC by immunohistochemistry and molecular methods...
October 2015: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/25990369/molecular-signature-of-salivary-gland-tumors-potential-use-as-diagnostic-and-prognostic-marker
#19
REVIEW
Felipe Paiva Fonseca, Marcondes Sena Filho, Albina Altemani, Paul M Speight, Pablo Agustin Vargas
Salivary gland tumors are a highly heterogeneous group of lesions with diverse microscopic appearances and variable clinical behavior. The use of clinical and histological parameters to predict patient prognosis and survival rates has been of limited utility, and the search for new biomarkers that could not only aid in a better understanding of their pathogenesis but also be reliable auxiliaries for prognostic determination and useful diagnostic tools has been performed in the last decades with very exciting results...
February 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/25968060/nerve-growth-factor-signals-as-possible-pathogenic-biomarkers-for-perineural-invasion-in-adenoid-cystic-carcinoma
#20
Kenya Kobayashi, Mizuo Ando, Yuki Saito, Kenji Kondo, Go Omura, Aya Shinozaki-Ushiku, Masashi Fukayama, Takahiro Asakage, Tatsuya Yamasoba
OBJECTIVE: The molecular mechanisms underlying perineural invasion (PNI)-a characteristic pathological feature of adenoid cystic carcinoma (ACC)-remain largely unclear. Recently, nerve growth factor (NGF) has been implicated in perineural invasion in certain malignancies. Overexpression of Myb related to the MYB-NFIB fusion gene in ACC has also been correlated with perineural invasion and survival. However, this concept is controversial. The aim of this study was to examine the expression of NGF together with its receptors, tropomyosin receptor kinase A (TrkA) and p75NRT, and Myb in ACC and assess their relationship with perineural invasion and survival...
August 2015: Otolaryngology—Head and Neck Surgery
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