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https://www.readbyqxmd.com/read/29492469/genomics-of-mucoepidermoid-and-adenoid-cystic-carcinomas
#1
REVIEW
Kenneth Yan, Jessica Yesensky, Rifat Hasina, Nishant Agrawal
Objective: To report on the current state of the literature on the genetics of mucoepidermoid and adenoid cystic carcinomas of the salivary glands with a focus on genomic screens and recently discovered genetic translocations. Methods: A PubMed based literature review was performed to query for genetics related basic science and preclinical studies about mucoepidermoid and adenoid cystic carcinomas of the salivary glands. Results and conclusions: Genetic translocations between CRTC1 and MAML2 in mucoepidermoid carcinoma and between MYB and NFIB in adenoid cystic carcinoma have been recently discovered and have therapeutic implications...
February 2018: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/29415898/thyroid-sclerosing-mucoepidermoid-carcinoma-with-eosinophilia-distinct-from-the-salivary-type
#2
Mitsuyoshi Hirokawa, Nami Takada, Hideyuki Abe, Ayana Suzuki, Miyoko Higuchi, Akihiro Miya, Toshitetsu Hayashi, Mitsuhiro Fukushima, Akihiko Kawahara, Akira Miyauchi
We report three cases of thyroid sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE), which is an extremely rare variant of mucoepidermoid carcinoma (MEC). The aims of this report were to describe the clinicopathological findings, including results from immunohistochemical and fluorescence in situ hybridization analysis of thyroid SMECE, as well as to discuss the distinction between thyroid SMECE and its salivary counterpart. The cases included a 63-year-old female, a 44-year-old male, and a 66-year-old female, with all patients presenting with Hashimoto's thyroiditis...
April 26, 2018: Endocrine Journal
https://www.readbyqxmd.com/read/29353885/crtc1-maml2-fusion-induced-lncrna-linc00473-expression-maintains-the-growth-and-survival-of-human-mucoepidermoid-carcinoma-cells
#3
Zirong Chen, Shuibin Lin, Jian-Liang Li, Wei Ni, Ruifeng Guo, Jianrong Lu, Frederic J Kaye, Lizi Wu
Mucoepidermoid carcinoma (MEC) arises in many glandular tissues and contributes to the most common malignant salivary gland cancers. MEC is specifically associated with a unique t(11;19) translocation and the resulting CRTC1-MAML2 fusion is a major oncogenic driver for MEC initiation and maintenance. However, the molecular basis underlying the CRTC1-MAML2 oncogenic functions remains elusive. Through gene expression profiling analysis, we observed that LINC00473, a long non-coding RNA (lncRNA), was the top down-regulated target in CRTC1-MAML2-depleted human MEC cells...
April 2018: Oncogene
https://www.readbyqxmd.com/read/29169286/sclerosing-mucoepidermoid-carcinoma-in-the-parotid-gland-with-crtc1-maml2-fusion-a-case-report
#4
Kei Yabuki, Atsuji Matsuyama, Eisuke Shiba, Gunji Nagatani, Masanori Hisaoka
In this article, we report a case of sclerosing mucoepidermoid carcinoma (MEC) arising in the parotid gland, with CRTC1-MAML2 gene fusion. A 73-year-old woman with a mass in the right parotid region was referred to our hospital. Radiological imaging tests revealed a well-defined mass, measuring 25 mm in diameter, with foci of calcification in the deep lobe of the parotid gland, extending to the parapharyngeal space. Microscopically, the tumor was composed of a proliferation of atypical glandular epithelial cells having intracytoplasmic mucin, squamoid cells, and intermediate cells arranged in nests embedded in a fibrosclerotic stroma, associated with a dense chronic inflammatory infiltrate containing immunoglobulin G4-immunoreactive plasma cells...
May 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29144557/penile-warty-mucoepidermoid-carcinoma-with-features-of-stratified-mucin-producing-intra-epithelial-lesion-and-invasive-stratified-mucin-producing-carcinoma
#5
Kenji Yorita, Naoto Kuroda, Takushi Naroda, Masato Tamura, Chisato Ohe, Mukul Divatia, Mahul B Amin, Antonio L Cubilla, Dimitry V Kazakov, Ondrej Hes, Michael Michal, Michal Michal
AIMS: Stratified mucin-producing intra-epithelial lesion (SMILE) and invasive stratified mucin-producing carcinoma (ISMC) are recently described cervical and penile lesions. We report an unusual case of mixed variant of penile squamous cell carcinomas with warty, usual and mucoepidermoid SMILE/ISMC features. METHODS AND RESULTS: A 62-year-old Japanese man had a glans penis lesion of one-and-a-half years' duration, suggesting malignancy. Partial penectomy and left inguinal lymphadenectomy were performed...
April 2018: Histopathology
https://www.readbyqxmd.com/read/29131467/central-mucoepidermoid-carcinoma-arising-from-glandular-odontogenic-cyst-confirmed-by-analysis-of-maml2-rearrangement-a-case-report
#6
Atsuhiro Nagasaki, Ikuko Ogawa, Yukiko Sato, Kengo Takeuchi, Masae Kitagawa, Toshinori Ando, Shinnichi Sakamoto, Madhu Shrestha, Kaori Uchisako, Koichi Koizumi, Shigeaki Toratani, Masaru Konishi, Takashi Takata
Central mucoepidermoid carcinoma (MEC) poses a diagnostic challenge because of its rarity and histological overlap with glandular odontogenic cyst (GOC). In MEC of both salivary glands and jaws, MAML2 arrangement has been well known as the specific gene alteration. We report a case of central MEC arising from GOC diagnosed by MAML2 fusion gene. A 57-year-old male presented a multilocular cystic lesion in left molar region of the mandible. Histopathologically, multiple cysts lined by thin cuboidal or non-keratinized squamous epithelium with small duct-like structures, mucous cells and ciliated cells were present...
January 2018: Pathology International
https://www.readbyqxmd.com/read/29121421/assessment-of-biologically-aggressive-recurrent-glandular-odontogenic-cysts-for-mastermind-like-2-maml2-rearrangements-histopathologic-and-fluorescent-in-situ-hybridization-fish-findings-in-11-cases
#7
Robert O Greer, Jeffrey Eskendri, Paul Freedman, Moni Ahmadian, Aline Murakami-Walter, Marileila Varella-Garcia
BACKGROUND: Glandular odontogenic cyst (GOC) demonstrates a significant predilection toward localized biologic aggressiveness and recurrence. GOC shares certain histopathologic features with intraosseous mucoepidermoid carcinoma (IMEC). The current investigation evaluates a group of recurrent, biologically aggressive GOCs to determine whether any cases demonstrated unique histologic features or mastermind-like2 (MAML2) rearrangements common to IMEC. METHODS: Microscopic slides from 11 previously diagnosed GOCs were stained with hematoxylin and eosin and assessed by 2 study participants for 10 classic histopathologic features required to establish a diagnosis of GOC...
February 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29079171/a-novel-fusion-gene-crtc3-maml2-in-hidradenoma-histopathological-significance
#8
Yuki Kuma, Yuichi Yamada, Hidetaka Yamamoto, Kenichi Kohashi, Takamichi Ito, Masutaka Furue, Yoshinao Oda
Hidradenoma usually presents as a solitary, slow-growing, and solid or cystic nodular lesion, which arises in various anatomical sites. Its diagnosis is occasionally difficult because the tumor shares histological features with other cutaneous appendage tumors. Recently, CRTC1-MAML2 fusion gene was reported in hidradenomas, with the fusion transcript being demonstrated in approximately 50% of cases. However, limited information is available regarding its clinical significance. Here, we investigated the relationship between the fusion gene and clinicohistopathological features...
December 2017: Human Pathology
https://www.readbyqxmd.com/read/29076877/the-role-of-molecular-testing-in-the-differential-diagnosis-of-salivary-gland-carcinomas
#9
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/28930752/salivary-gland-neoplasms-does-morphological-diversity-reflect-tumor-heterogeneity
#10
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...
2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28927048/mucoepidermoid-carcinoma-of-the-sublingual-gland-harboring-a-translocation-of-the-maml2-gene-a-case-report
#11
Kiminobu Sato, Jun Akiba, Ken Nakamura, Hideyuki Abe, Akihiko Kawahara, Takeichiro Aso, Hirohito Umeno, Hiroshi Harada, Hirohisa Yano
Among tumors of the major salivary glands, tumors in the sublingual gland are rare. Although mucoepidermoid carcinoma (MEC) represents a histological type of salivary gland tumor, it is occasionally difficult to diagnose due to its histological variation. The present study reports a case of MEC harboring a mastermind-like transcriptional coactivator 2 (MAML2) gene translocation in the sublingual gland. A 76-year-old Japanese woman with a mass in the left submandibular region was referred to Kurume University Hospital (Kurume, Japan)...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28877061/maml2-rearrangements-in-variant-forms-of-mucoepidermoid-carcinoma-ancillary-diagnostic-testing-for-the-ciliated-and-warthin-like-variants
#12
Justin A Bishop, Morgan L Cowan, Chung H Shum, William H Westra
Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy. Recent studies have shown that most MECs harbor gene fusions involving MAML2-an alteration that appears to be specific for MEC, a finding that could be diagnostically useful. While most cases of MEC are histologically straightforward, uncommon variants can cause considerable diagnostic difficulty. We present 2 variants of MEC for which MAML2 studies were crucial in establishing a diagnosis: a previously undescribed ciliated variant, and the recently described Warthin-like variant...
January 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28756976/oncocytic-papillary-cystadenoma-with-prominent-mucinous-differentiation-of-parotid-gland-a-case-report
#13
Borislav A Alexiev, Lawrence J Jennings, Sandeep Samant, Sambasiva Rao
We describe the case of an oncocytic papillary cystadenoma with mucinous differentiation of the parotid gland in a 64-year-old male. Histologically, the tumor exhibited distinctive areas of intracystic papillary growth pattern with microcystic and macrocystic spaces containing mucinous secretions and small crystals. The cyst wall and papillary fronds were lined by oncocytic admixed with numerous mucocytes. Lymphoid tissue and invasive features were not identified. The tumor showed strong expression of CK7 and mammaglobin in oncocytes, and BRST-2 and MUC4 in mucocytes...
October 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28755513/cytological-features-of-the-warthin-like-variant-of-salivary-mucoepidermoid-carcinoma
#14
Jen-Fan Hang, Chung H Shum, Syed Z Ali, Justin A Bishop
Warthin-like mucoepidermoid carcinoma is a recently proposed variant of musoepidermoid carcinoma. Histologically, it is characterized by its close resemblance to Warthin tumor, including dense lymphocytic infiltration, flattened intermediate epithelium resembling squamous metaplasia, and cystic change. Given its histologic similarity to Warthin tumor, confirmatory testing for MAML2 rearrangement is often required for this diagnosis. Here we present the first cytologic reports of two 53-year-old female patients with parotid masses...
December 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28753783/gene-expression-profiling-of-advanced-penile-squamous-cell-carcinoma-receiving-cisplatin-based-chemotherapy-improves-prognostication-and-identifies-potential-therapeutic-targets
#15
Andrea Necchi, Bernhard J Eigl, Eddy Shih-Hsin Yang, Sejong Bae, Darshan Chandrashekar, Dongquan Chen, Gurudatta Naik, Amitkumar Mehta, Patrizia Giannatempo, Maurizio Colecchia, Jennifer Gordetsky, Shi Wei, Tiffiny Cooper, Sooryanarayana Varambally, Guru Sonpavde
In men with advanced penile squamous cell carcinoma receiving first-line chemotherapy, visceral metastases (VM) and Eastern Cooperative Oncology Group performance status ≥1 are poor prognostic factors for overall survival (OS). We hypothesized that tumor gene expression profiling may enhance prognostic stratification and identify potential therapeutic targets. In this retrospective study, RNA extracted from macrodissected tumors underwent profiling for the expression of 738 genes using NanoString. Univariate and multivariate analyses assessed the association of genes, VM, and performance status with OS...
August 27, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28731049/composite-hemangioendothelioma-with-neuroendocrine-marker-expression-an-aggressive-variant
#16
Kyle D Perry, Alyaa Al-Lbraheemi, Brian P Rubin, Jin Jen, Hongzheng Ren, Jin Sung Jang, Asha Nair, Jaime Davila, Stefan Pambuccian, Andrew Horvai, William Sukov, Henry D Tazelaar, Andrew L Folpe
Aberrant expression of neuroendocrine markers is extremely rare in endothelial neoplasms, with only a single report describing three cases. Although originally classified as conventional angiosarcoma, further assessment of these tumors revealed a strikingly composite morphology composed of retiform and epithelioid elements reminiscent of composite hemangioendothelioma, a rare subtype of hemangioendothelioma. To further investigate these findings, available materials from 11 morphologically distinctive endothelial tumors showing neuroendocrine marker expression were retrieved from our archives...
November 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28670072/primary-mucoepidermoid-carcinoma-of-the-lung-with-prominent-clear-cells
#17
David D Fink, Angela M Lomas, Anja C Roden, Prashant C Shah, Riyam T Zreik
Mucoepidermoid carcinoma of the lung is a rare malignancy of salivary gland-type origin. We report a case of a 21-year-old man with a right mainstem bronchus mass composed predominantly of clear cells. This case represents a rare primary pulmonary low-grade mucoepidermoid carcinoma positive for MAML2 rearrangement by fluorescence in situ hybridization with a prominent clear cell component.
July 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28637362/spindle-cell-mucoepidermoid-carcinoma-of-the-palatine-tonsil-with-crtc1-maml2-fusion-transcript-report-of-a-rare-case-in-a-17-year-old-boy-and-a-review-of-the-literature
#18
Giap Hean Goh, Chwee Ming Lim, Tomas Vanacek, Michal Michal, Fredrik Petersson
Mucoepidermoid carcinoma (MEC) with a predominant spindle cell composition occurring in the palatine tonsil is exceedingly rare. We present a case of a 17-year-old boy with an uncommon spindle cell variant of MEC arising in the palatine tonsil. Histologically, the tumor showed a solid, noncystic architecture and was composed of a predominant population of bland spindle to fusiform cells arranged in organoid nests with interspersed goblet cells and focal areas of ductular structures. Reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization (FISH) revealed the presence of a t(11;19) CRTC1-MAML2 gene fusion in this rare variant of MEC...
June 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28625977/acetylation-of-mastermind-like-1-by-p300-drives-the-recruitment-of-nack-to-initiate-notch-dependent-transcription
#19
Ke Jin, Wen Zhou, Xiaoqing Han, Zhiqiang Wang, Bin Li, Shawn Jeffries, Wensi Tao, David J Robbins, Anthony J Capobianco
Although it has long been appreciated that p300 acts as a critical Notch coactivator, the mechanistic details of p300 in Notch-mediated transcription remain unclear. We previously demonstrated that PEAK1-related kinase activating pseudokinase 1 (NACK), also known as SGK223, is a critical coactivator of Notch signaling and binds to the Notch1 ternary complex. Herein we report that p300 and CBP acetylate Mastermind-like 1 (Maml1) on amino acid residues K188 and K189 to recruit NACK to the Notch1 ternary complex, which results in the recruitment of RNA polymerase II to initiate transcription...
August 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28597942/copy-number-alterations-determined-by-single-nucleotide-polymorphism-array-testing-in-the-clinical-laboratory-are-indicative-of-gene-fusions-in-pediatric-cancer-patients
#20
Tracy M Busse, Jacquelyn J Roth, Donna Wilmoth, Luanne Wainwright, Laura Tooke, Jaclyn A Biegel
Gene fusions resulting from structural rearrangements are an established mechanism of tumorigenesis in pediatric cancer. In this clinical cohort, 1,350 single nucleotide polymorphism (SNP)-based chromosomal microarrays from 1,211 pediatric cancer patients were evaluated for copy number alterations (CNAs) associated with gene fusions. Karyotype or fluorescence in situ hybridization studies were performed in 42% of the patients. Ten percent of the bone marrow or solid tumor specimens had SNP array-associated CNAs suggestive of a gene fusion...
October 2017: Genes, Chromosomes & Cancer
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