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https://www.readbyqxmd.com/read/29619555/prognostic-significance-of-1p36-locus-deletion-in-adenoid-cystic-carcinoma-of-the-salivary-glands
#1
Petr Šteiner, Simon Andreasen, Petr Grossmann, Lukáš Hauer, Tomáš Vaněček, Markéta Miesbauerová, Thalita Santana, Katalin Kiss, David Slouka, Alena Skálová
Adenoid cystic carcinoma (AdCC) of the salivary glands is characterized by MYB-NFIB or MYBL1-NFIB fusion, prolonged but relentlessly progressive clinical course with frequent recurrences, and development of distant metastasis resulting in high long-term mortality. Currently, no effective therapy is available for patients with advanced non-resectable and/or metastatic disease. Complicating the clinical management of this patient group is the lack of prognostic markers. The purpose of this study is to investigate the prognostic value of 1p36 loss in patients with AdCC...
April 4, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29610392/personalized-oncogenomic-analysis-of-metastatic-adenoid-cystic-carcinoma-using-whole-genome-sequencing-to-inform-clinical-decision-making
#2
Manik Chahal, Erin Pleasance, Jasleen Grewal, Eric Zhao, Tony Ng, Erin Chapman, Martin R Jones, Yaoqing Shen, Karen L Mungall, Melika Bonakdar, Gregory A Taylor, Yussanne Ma, Andrew J Mungall, Richard A Moore, Howard Lim, Daniel Renouf, Stephen Yip, Steven J M Jones, Marco A Marra, Janessa Laskin
Metastatic adenoid cystic carcinomas (ACCs) can cause significant morbidity and mortality. Because of their slow growth and relative rarity, there is limited evidence for systemic therapy regimens. Recently, molecular profiling studies have begun to reveal the genetic landscape of these poorly understood cancers, and new treatment possibilities are beginning to emerge. The objective is to use whole-genome and transcriptome sequencing and analysis to better understand the genetic alterations underlying the pathology of metastatic and rare ACCs and determine potentially actionable therapeutic targets...
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29570128/small-subset-of-adenoid-cystic-carcinoma-of-the-skin-is-associated-with-alterations-of-the-mybl1-gene-similar-to-their-extracutaneous-counterparts
#3
Liubov Kyrpychova, Tomas Vanecek, Petr Grossmann, Petr Martinek, Petr Steiner, Ladislav Hadravsky, Irena E Belousova, Ksenya V Shelekhova, Marian Svajdler, Pavol Dubinsky, Michal Michal, Dmitry V Kazakov
Adenoid cystic carcinoma (ACC) of the skin is a rare malignant neoplasm histologically identical to homonymous tumors in other organs. Cutaneous ACC has been found to harbor MYB gene activations, either through MYB chromosomal abnormalities or by generation of the MYB-NFIB fusion. In salivary gland ACC, in addition to the MYB gene, alterations in MYBL1, the gene closely related to MYB, have been reported. We studied 10 cases of cutaneous ACC (6 women, 4 men; and age range 51-83 years) for alterations in the MYB, NFIB, and MYBL1 genes, using FISH and PCR...
March 21, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29555661/salivary-gland-cancer-patient-derived-xenografts-enable-characterization-of-cancer-stem-cells-and-new-gene-events-associated-with-tumor-progression
#4
Stephen B Keysar, Justin R Eagles, Bettina Miller, Brian C Jackson, Farshad N Chowdhury, Julie Reisinger, Tugs-Saikhan Chimed, Phuong N Le, John J Morton, Hilary L Somerset, Marileila Varella-Garcia, Aik-Choon Tan, John I Song, Daniel W Bowles, Mary E Reyland, Antonio Jimeno
Purpose: Salivary gland cancers (SGC) frequently present with distant metastases many years after diagnosis, suggesting a cancer stem cell (CSC) subpopulation that initiates late recurrences; however, current models are limited both in their availability and suitability to characterize these rare cells. Experimental Design: Patient-derived xenografts (PDX) were generated by engrafting patient tissue onto nude mice from one acinic cell carcinoma (AciCC), four adenoid cystic carcinoma (ACC), and three mucoepidermoid carcinoma (MEC) cases, which were derived from successive relapses from the same MEC patient...
March 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29533280/polymorphous-sweat-gland-carcinoma-an-immunohistochemical-and-molecular-study
#5
Shira Ronen, Irene Aguilera-Barrantes, Tamara Giorgadze, Petr Šteiner, Petr Grossmann, Saul Suster
Polymorphous sweat gland carcinoma is an uncommon low-grade malignant adnexal tumor with a marked predilection for the distal extremities. Histologically, the lesions are characterized by a cellular proliferation showing a combination of growth patterns, including trabecular, solid, tubular, cribriform, or adenoid cystic and pseudopapillary. The immunohistochemical and molecular profile of these tumors has not yet been properly addressed. We have studied 3 cases of polymorphous sweat gland carcinoma using a broad panel of immunohistochemical markers including cytokeratin AE1/AE3, CK5/6, MOC31, p40, p63, p16, chromogranin, synaptophysin, CD56, MIB-1, estrogen receptor, progesterone receptor, androgen receptor, BER-EP4, smooth muscle actin, epithelial membrane antigen, carcinoembryonic antigen, CD117, S100 protein, HBME-1, DOG1, vimentin, and mammaglobin...
March 6, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29410490/myb-and-mybl1-in-adenoid-cystic-carcinoma-diversity-in-the-mode-of-genomic-rearrangement-and-transcripts
#6
Yuki Togashi, Akito Dobashi, Seiji Sakata, Yukiko Sato, Satoko Baba, Akira Seto, Hiroki Mitani, Kazuyoshi Kawabata, Kengo Takeuchi
MYB-NFIB and MYBL1-NFIB have been reported in ~60% of adenoid cystic carcinoma cases, but driver alterations in the remaining ~40% of adenoid cystic carcinoma remain unclear. We examined 100 adenoid cystic carcinoma cases for MYB and MYBL1 locus rearrangements by fluorescence in situ hybridization (FISH) with originally designed probe sets using formalin-fixed paraffin-embedded materials. Approximately one-third of samples were also analyzed by fusion transcript-specific RT-PCR and capture RNA sequencing. In the 27 cases with frozen materials, MYB-NFIB and MYBL1-NFIB fusion transcripts were detected in 9 (33%) and 6 cases (22%) by RT-PCR, respectively...
February 6, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29243184/study-of-myb-nfib-chimeric-gene-expression-tumor-angiogenesis-and-proliferation-in-adenoid-cystic-carcinoma-of-salivary-gland
#7
Junya Ono, Yasuo Okada
Adenoid cystic carcinoma (ACC) is one of the common malignant tumors in salivary glands, and the clinical prognosis is poor with frequent distant metastasis which may lead to death. Expression of the MYB-NFIB chimeric gene in ACC has been reported recently. MYB is an oncogene with transcription regulating functions, and NFIB encodes nuclear transcription factor although detailed functions are unknown. This study investigated whether MYB-NFIB chimeric gene expression affects tumor angiogenesis and proliferation in salivary gland ACC...
December 14, 2017: Odontology
https://www.readbyqxmd.com/read/29149504/mybl1-rearrangements-and-myb-amplification-in-breast-adenoid-cystic-carcinomas-lacking-the-myb-nfib-fusion-gene
#8
Jisun Kim, Felipe C Geyer, Luciano G Martelotto, Charlotte Ky Ng, Raymond S Lim, Pier Selenica, Anqi Li, Fresia Pareja, Nicola Fusco, Marcia Edelweiss, Rahul Kumar, Rodrigo Gularte-Merida, Andre N Forbes, Ekta Khurana, Odette Mariani, Sunil Badve, Anne Vincent-Salomon, Larry Norton, Jorge S Reis-Filho, Britta Weigelt
Breast adenoid cystic carcinoma (AdCC), a rare type of triple-negative breast cancer, has been shown to be driven by MYB pathway activation, most often underpinned by the MYB-NFIB fusion gene. Alternative genetic mechanisms, such as MYBL1 rearrangements, have been reported in MYB-NFIB-negative salivary gland AdCCs. Here we report on the molecular characterization by massively parallel sequencing of four breast AdCCs lacking the MYB-NFIB fusion gene. In two cases, we identified MYBL1 rearrangements (MYBL1-ACTN1 and MYBL1-NFIB), which were associated with MYBL1 overexpression...
February 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29141398/the-prognostic-significance-of-notch1-and-fatty-acid-binding-protein-7-fabp7-expression-in-resected-tracheobronchial-adenoid-cystic-carcinoma-a-multicenter-retrospective-study
#9
Mian Xie, Xiaojun Wu, Jinjun Zhang, Chaosheng He, Shenhai Wei, Junyao Huang, Xinge Fu, Yingying Gu
Purpose: Adenoid cystic carcinoma (ACC) of the trachea and bronchus is a rare tumor. Although MYB-NFIB oncogene fusion and Notch1 mutation have been identified in adenoid cystic carcinoma (ACC), little is known about the expression and clinical significance of Notch1 and its target gene fatty acid binding protein 7 (FABP7) in tracheobronchial ACC. Materials and Methods: Primary tracheobronchial ACC that were resected between 1998 and 2014 were identified through the pathology and oncology database from five thoracic oncology centers in China...
November 15, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29135517/myb-translocation-status-in-salivary-gland-epithelial-myoepithelial-carcinoma-evaluation-of-classic-variant-and-hybrid-forms
#10
Justin A Bishop, William H Westra
Epithelial-myoepithelial carcinoma (EMC) is a malignant salivary gland neoplasm comprised of a biphasic arrangement of inner luminal ductal cells and outer myoepithelial cells. Adenoid cystic carcinoma (AdCC) is also a biphasic tumor comprised of ductal and myoepithelial cells, but these components tend to be arranged in a more cribriform pattern. The occurrence of "hybrid carcinomas" that show mixed patterns of EMC and AdCC raises questions about the relationship of these morphologically overlapping but clinically distinct tumors...
March 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29076877/the-role-of-molecular-testing-in-the-differential-diagnosis-of-salivary-gland-carcinomas
#11
Alena Skálová, Göran Stenman, Roderick H W Simpson, Henrik Hellquist, David Slouka, Tomas Svoboda, Justin A Bishop, Jennifer L Hunt, Ken-Ichi Nibu, Alessandra Rinaldo, Vincent Vander Poorten, Kenneth O Devaney, Petr Steiner, Alfio Ferlito
Salivary gland neoplasms are a morphologically heterogenous group of lesions that are often diagnostically challenging. In recent years, considerable progress in salivary gland taxonomy has been reached by the discovery of tumor type-specific fusion oncogenes generated by chromosome translocations. This review describes the clinicopathologic features of a selected group of salivary gland carcinomas with a focus on their distinctive genomic characteristics. Mammary analog secretory carcinoma is a recently described entity characterized by a t(12;15)(p13;q25) translocation resulting in an ETV6-NTRK3 fusion...
February 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28954282/targeting-the-oncogenic-transcriptional-regulator-myb-in-adenoid-cystic-carcinoma-by-inhibition-of-igf1r-akt-signaling
#12
Mattias K Andersson, Maryam K Afshari, Ywonne Andrén, Michael J Wick, Göran Stenman
Background: Adenoid cystic carcinoma (ACC) is an aggressive cancer with no curative treatment for patients with recurrent/metastatic disease. The MYB-NFIB gene fusion is the main genomic hallmark and a potential therapeutic target. Methods: Oncogenic signaling pathways were studied in cultured cells and/or tumors from 15 ACC patients. Phospho-receptor tyrosine kinase (RTK) arrays were used to study the activity of RTKs. Effects of RTK inhibition on cell proliferation were analyzed with AlamarBlue, sphere assays, and two ACC xenograft models (n = 4-9 mice per group)...
September 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28930752/salivary-gland-neoplasms-does-morphological-diversity-reflect-tumor-heterogeneity
#13
Miguel Rito, Isabel Fonseca
Salivary gland tumor classification encompasses a vast list of benign and malignant neoplasms. Their morphological diversity is recognized not only between different entities but also within individual tumors. Tumor categories as described by the World Health Organization reflect, in part, a true genetic heterogeneity (e.g., translocations involving CRTC1 and CRTC3-MAML2 genes in mucoepidermoid carcinoma and MYB-NFIB fusion in adenoid cystic carcinoma). Carcinoma ex pleomorphic adenoma shows diversity in its histological appearance, but recurrent rearrangements on PLAG1 and HMGA2 are common to its benign precursor...
September 21, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28894575/genomic-imbalances-and-myb-fusion-in-synchronous-bilateral-adenoid-cystic-carcinoma-and-invasive-lobular-carcinoma-of-the-breast
#14
Anikó Kovács, Fredrik Persson, Marta Persson, Mattias K Andersson, Göran Stenman
The incidence of synchronous bilateral breast carcinomas (BBCs) has increased with a more frequent use of magnetic resonance imaging screening of the contralateral breast in women with newly diagnosed breast cancer. A total of 30% of all BBCs occur synchronously. In the present study, we describe a unique case of synchronous BBC in a 59-year-old previously healthy woman with no known family history of breast or ovarian cancer. At the time of diagnosis the patient had an invasive lobular carcinoma (ILC) in the right breast and an adenoid cystic carcinoma (ACC) in the left breast...
September 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28877065/hpv-related-multiphenotypic-sinonasal-carcinoma-an-expanded-series-of-49-cases-of-the-tumor-formerly-known-as-hpv-related-carcinoma-with-adenoid-cystic-carcinoma-like-features
#15
Justin A Bishop, Simon Andreasen, Jen-Fan Hang, Martin J Bullock, Tiffany Y Chen, Alessandro Franchi, Joaquin J Garcia, Douglas R Gnepp, Carmen R Gomez-Fernandez, Stephan Ihrler, Ying-Ju Kuo, James S Lewis, Kelly R Magliocca, Stefan Pambuccian, Ann Sandison, Emmanuelle Uro-Coste, Edward Stelow, Katalin Kiss, William H Westra
Human papillomavirus (HPV)-related multiphenotypic sinonasal carcinoma (HMSC), originally known as HPV-related carcinoma with adenoid cystic carcinoma-like features, is a peculiar neoplasm that is restricted to the sinonasal tract, exhibits features of both a surface-derived and salivary gland carcinoma (particularly adenoid cystic carcinoma), and is associated with high-risk HPV. Given the limited number of published cases, the full clinicopathologic spectrum of this neoplasm is unclear. Here, we present an updated experience of 49 cases...
December 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28719465/predictors-of-outcome-in-adenoid-cystic-carcinoma-of-salivary-glands-a-clinicopathologic-study-with-correlation-between-myb-fusion-and-protein-expression
#16
Bin Xu, Esther Drill, Allen Ho, Alan Ho, Lara Dunn, Carlos Nicolas Prieto-Granada, Timothy Chan, Ian Ganly, Ronald Ghossein, Nora Katabi
Adenoid cystic carcinoma (ACC) is the second most common salivary gland malignancy and it has a high rate of recurrences and a poor long-term prognosis. Our aim was to assess the prognostic factors in ACC and study MYB-NFIB fusion and MYB protein expression in a large retrospective cohort of 135 patients with a median follow-up of 6.3 years. The 5- and 10-year local recurrence-free survival (RFS) rate of 94% and 78%, 5- and 10-year distant metastasis survival rate of 77% and 58%, and 5- and 10-year RFS of 66% and 44%...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28594149/myb-mybl1-mybl2-and-nfib-gene-alterations-and-myc-overexpression-in-salivary-gland-adenoid-cystic-carcinoma
#17
Kana Fujii, Takayuki Murase, Shintaro Beppu, Kosuke Saida, Hisashi Takino, Ayako Masaki, Kei Ijichi, Kimihide Kusafuka, Yoshiyuki Iida, Tetsuro Onitsuka, Yasushi Yatabe, Nobuhiro Hanai, Yasuhisa Hasegawa, Hiroshi Inagaki
AIMS: Adenoid cystic carcinoma (AdCC) is one of the most common salivary gland malignancies and the long-term prognosis is poor. In this study, we examined alterations of AdCC-associated genes, MYB, MYBL1, MYBL2 and NFIB, and their target molecules, including MYC. The results were correlated to clinicopathological profile of the patients. METHODS AND RESULTS: Using paraffin tumour sections from 33 cases of salivary gland AdCC, we performed a detailed fluorescence in-situ hybridization (FISH) analysis for gene splits and fusions of MYB, MYBL1, MYBL2 and NFIB...
June 8, 2017: Histopathology
https://www.readbyqxmd.com/read/28500913/myb-fusions-and-cd-markers-as-tools-for-authentication-and-purification-of-cancer-stem-cells-from-salivary-adenoid-cystic-carcinoma
#18
Alex Panaccione, Yi Zhang, Molly Ryan, Christopher A Moskaluk, Karen S Anderson, Wendell G Yarbrough, Sergey V Ivanov
Cancer stem cells (CSC) are considered the major cause of aggressive tumor behavior, recurrence, metastases, and resistance to radiation, making them an attractive therapeutic target. However, isolation of CSC from tumor tissue and their characterization are challenging due to uncertainty about their molecular markers and conditions for their propagation. Adenoid cystic carcinoma (ACC), which arises predominantly in the salivary glands, is a slow-growing but relentless tumor that frequently invades nerves and metastasizes...
May 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28498281/myb-labeling-by-immunohistochemistry-is-more-sensitive-and-specific-for-breast-adenoid-cystic-carcinoma-than-myb-labeling-by-fish
#19
COMPARATIVE STUDY
Justin S Poling, Raluca Yonescu, Andrea P Subhawong, Rajni Sharma, Pedram Argani, Yi Ning, Ashley Cimino-Mathews
Breast adenoid cystic carcinoma (ACC) is a primary breast carcinoma that, like salivary gland ACC, displays the t(6;9) translocation resulting in the MYB-NFIB gene fusion and immunopositivity for MYB by immunohistochemistry (IHC). However, it is not well established whether MYB immunoreactivity or rearrangement can be used to support a diagnosis of ACC in a malignant basaloid or benign cribriform breast lesion. Whole sections of primary breast ACC (n=11), collagenous spherulosis (CS; n=7), and microglandular adenosis (MGA; n=5) and tissue microarrays containing 16 basal-like, triple-negative breast carcinomas (TNBC) were labeled for MYB by IHC and underwent MYB fluorescence in situ hybridization using a break-apart probe...
July 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28210977/genetic-characterization-of-adenoid-cystic-carcinoma-of-the-minor-salivary-glands-a-potential-familial-occurrence-in-first-degree-relatives
#20
Hani Ibrahim Channir, Thomas van Overeem Hansen, Simon Andreasen, Christina Westmose Yde, Katalin Kiss, Birgitte Wittenborg Charabi
Adenoid cystic carcinoma (AdCC) is a malignant salivary gland tumor. To date, no cases of AdCC in first-degree relatives have been reported in the literature. We present a 50-year-old female (Case 1) and this patients' father (Case 2), both of whom were diagnosed with AdCC of the minor salivary glands. Histology of Case 1 demonstrated a tubulocribriform AdCC whereas Case 2 primarily was an AdCC of solid type. Both cases harbored the MYB-NFIB gene fusion as demonstrated by FISH and RNA-sequencing. After filtering and selection of putative deleterious variants, whole exome sequencing identified 18 germline variants in common between Case 1 and Case 2...
December 2017: Head and Neck Pathology
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