MAML2

Summary

Gene Symbol: MAML2
Description: mastermind like transcriptional coactivator 2
Alias: MAM-3, MAM2, MAM3, MLL-MAML2, mastermind-like protein 2, mam-2, mastermind-like 2
Species: human
Products:     MAML2

Top Publications

  1. Enlund F, Behboudi A, Andrén Y, Oberg C, Lendahl U, Mark J, et al. Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors. Exp Cell Res. 2004;292:21-8 pubmed
    ..function, designated WAMTP1, is linked to exons 2-5 of the recently identified Mastermind-like Notch coactivator MAML2. In the fusion protein, the N-terminal basic domain of MAML2, which is required for binding to intracellular Notch ..
  2. Seethala R, Dacic S, Cieply K, Kelly L, Nikiforova M. A reappraisal of the MECT1/MAML2 translocation in salivary mucoepidermoid carcinomas. Am J Surg Pathol. 2010;34:1106-21 pubmed publisher
    The MECT1/MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator...
  3. Wu L, Liu J, Gao P, Nakamura M, Cao Y, Shen H, et al. Transforming activity of MECT1-MAML2 fusion oncoprotein is mediated by constitutive CREB activation. EMBO J. 2005;24:2391-402 pubmed
    ..translocated-1) and the C-terminal transcriptional activation domain of the Notch coactivator Mastermind-like 2 (MAML2)...
  4. Okabe M, Miyabe S, Nagatsuka H, Terada A, Hanai N, Yokoi M, et al. MECT1-MAML2 fusion transcript defines a favorable subset of mucoepidermoid carcinoma. Clin Cancer Res. 2006;12:3902-7 pubmed
    ..Mucoepidermoid carcinoma translocated gene 1-mastermind-like gene family (MECT1-MAML2) gene fusion was identified from a recurring t(11;19)(q21;p13) translocation, which is often the sole cytogenetic ..
  5. Noda H, Okumura Y, Nakayama T, Miyabe S, Fujiyoshi Y, Hattori H, et al. Clinicopathological significance of MAML2 gene split in mucoepidermoid carcinoma. Cancer Sci. 2013;104:85-92 pubmed publisher
    CRTC1-MAML2 and CRTC3-MAML2 fusions have been associated with favorable clinicopathological features of mucoepidermoid carcinomas. However, the significance of the MAML2 gene split has not been fully clarified...
  6. Achcar R, Nikiforova M, Dacic S, Nicholson A, Yousem S. Mammalian mastermind like 2 11q21 gene rearrangement in bronchopulmonary mucoepidermoid carcinoma. Hum Pathol. 2009;40:854-60 pubmed publisher
    ..t(11;19)(q21;p13) results in the gene fusion of mucoepidermoid carcinoma translocated 1-mammalian mastermind like 2 genes that is the major chromosomal abnormality observed in mucoepidermoid carcinomas of salivary glands but ..
  7. Garcia J, Hunt J, Weinreb I, McHugh J, Barnes E, Cieply K, et al. Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas: utility as a diagnostic test. Hum Pathol. 2011;42:2001-9 pubmed publisher
    ..Although the prognostic value of the t(11;19) MECT1-MAML2 fusion gene has been established in mucoepidermoid carcinoma, its diagnostic use in discriminating oncocytic ..
  8. Tonon G, Modi S, Wu L, Kubo A, Coxon A, Komiya T, et al. t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Nat Genet. 2003;33:208-13 pubmed
    ..carcinoma translocated 1 (MECT1), with exons 2-5 of a novel member of the Mastermind-like gene family (MAML2) at 11q21 (ref. 3). Similar to D. melanogaster Mastermind and MAML1 (refs...
  9. Reddy R, Islam M, Bhattacharyya I, Cohen D, Fitzpatrick S, Ganatra S. The reliability of MAML2 gene rearrangement in discriminating between histologically similar glandular odontogenic cysts and intraosseous mucoepidermoid carcinomas. Oral Surg Oral Med Oral Pathol Oral Radiol. 2018;: pubmed publisher
    b>MAML2 expression is proven in the majority of mucoepidermoid carcinomas (MECs) arising in salivary glands. MEC can also occur intraosseously (IMEC)...

More Information

Publications89

  1. Ilhan H, Goritschan A, Paprottka P, Jakobs T, Fendler W, Bartenstein P, et al. Systematic evaluation of tumoral 99mTc-MAA uptake using SPECT and SPECT/CT in 502 patients before 90Y radioembolization. J Nucl Med. 2015;56:333-8 pubmed publisher
    ..However, the variation of uptake within the different tumor entities is high. ..
  2. Yorita K, Nakagawa H, Miyazaki K, Fukuda J, Ito S, Kosai M. Infarcted Warthin tumor with mucoepidermoid carcinoma-like metaplasia: a case report and review of the literature. J Med Case Rep. 2019;13:12 pubmed publisher
    ..Based on the results of fluorescence in situ hybridization, MAML2 gene rearrangement was not present in the typical portions of Warthin tumor and the mucoepidermoid carcinoma-like ..
  3. Gerstein A, Ono J, Lo D, Campbell M, Kuzmin A, Otto S. Too much of a good thing: the unique and repeated paths toward copper adaptation. Genetics. 2015;199:555-71 pubmed publisher
    ..mutations in different lines (the vacuolar transporter genes VTC1 and VTC4; the plasma membrane H+-ATPase PMA1; and MAM3, a protein required for normal mitochondrial morphology)...
  4. Papp E, Hallberg D, Konecny G, Bruhm D, Adleff V, Noe M, et al. Integrated Genomic, Epigenomic, and Expression Analyses of Ovarian Cancer Cell Lines. Cell Rep. 2018;25:2617-2633 pubmed publisher
    ..and H3F3B, deletion or underexpression of CDC73 and TGF-beta receptor pathway members, and rearrangements of YAP1-MAML2 and IKZF2-ERBB4...
  5. Lee J, Lee J, Kim H, Chae W, Kim S, Lim Y, et al. Brassinosteroids regulate glucosinolate biosynthesis in Arabidopsis thaliana. Physiol Plant. 2018;163:450-458 pubmed publisher
    ..by monitoring the expression levels of GS biosynthetic genes, including MAM1, MAM3, BCAT4 and AOP2, which increased in a BL-dependent manner...
  6. Lock A, Forfar R, Weston C, Bowsher L, Upton G, Reynolds C, et al. One motif to bind them: A small-XXX-small motif affects transmembrane domain 1 oligomerization, function, localization, and cross-talk between two yeast GPCRs. Biochim Biophys Acta. 2014;1838:3036-51 pubmed publisher
    ..The Schizosaccharomyces pombe GPCR Mam2 is a pheromone-sensing receptor involved in mating and has previously been shown to form oligomers in vivo...
  7. Saint Just Ribeiro M, Wallberg A. Transcriptional mechanisms by the coregulator MAML1. Curr Protein Pept Sci. 2009;10:570-6 pubmed
    ..The MAML family contains MAML1, MAML2, and MAML3...
  8. Niyazova R, Berillo O, Atambayeva S, Pyrkova A, Alybayeva A, Ivashchenko A. miR-1322 Binding Sites in Paralogous and Orthologous Genes. Biomed Res Int. 2015;2015:962637 pubmed publisher
    ..miR-1322 has arranged binding sites in the CDSs of orthologous MAMLD1, MAML2, and MAML3 genes. These sites encode a polyglutamine oligopeptide ranging from six to 47 amino acids in length...
  9. Prieto Granada C, Inagaki H, Mueller J. Thymic Mucoepidermoid Carcinoma: Report of a Case With CTRC1/3-MALM2 Molecular Studies. Int J Surg Pathol. 2015;23:277-83 pubmed publisher
    ..fusions, t(11;19)(q21;p13) CREB (cAMP response element-binding protein)-regulated transcription coactivator 1 and MAML2, mastermind-like gene 2 (CRTC1-MAML2) and t(11:15)(q21;q26) CRTC3-MAML2 characterize a considerable proportion of ..
  10. Liu Z, Li R, Dong Q, Bian L, Li X, Yuan S. Characterization of the non-sexual flocculation of fission yeast cells that results from the deletion of ribosomal protein L32. Yeast. 2015;32:439-49 pubmed publisher
    ..this non-sexual flocculation is an adhesin-mediated process: (a) the transcription levels of several members of the Mam3/Map4 family of adhesins (i.e...
  11. Anzick S, Chen W, Park Y, Meltzer P, Bell D, El Naggar A, et al. Unfavorable prognosis of CRTC1-MAML2 positive mucoepidermoid tumors with CDKN2A deletions. Genes Chromosomes Cancer. 2010;49:59-69 pubmed publisher
    The CRTC1-MAML2 fusion oncogene underlies the etiology of mucoepidermoid salivary gland carcinoma (MEC) where it confers a favorable survival outcome as compared with fusion-negative MEC...
  12. Ricarte F, Menjivar R, Chhun S, Soreta T, Oliveira L, Hsueh T, et al. A genome-wide immunodetection screen in S. cerevisiae uncovers novel genes involved in lysosomal vacuole function and morphology. PLoS ONE. 2011;6:e23696 pubmed publisher
    ..four novel genes ENV7, ENV9, ENV10, and ENV11, and three genes previously linked to mitochondrial processes - MAM3, PCP1, PPE1...
  13. Wang W, Zhou H, Yu Y, Lv H. [Ash2, a subunit of histone H3K4 methyltransferase complex, is involved in the sporulation in Schizosaccharomyces pombe]. Yi Chuan. 2014;36:943-51 pubmed publisher
    ..phosphorylation and then induced the transcriptions of several genes requied for meiosis, including mei2(+), mam2(+) and map3(+)...
  14. Nakano T, Yamamoto H, Nishijima T, Tamiya S, Shiratsuchi H, Nakashima T, et al. Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses. Virchows Arch. 2015;466:37-43 pubmed publisher
    ..b>MAML2 fusions specific to mucoepidermoid carcinoma were not detected in any of the three cases...
  15. Nieuwenhuis M, Vonk J, Himes B, Sarnowski C, Minelli C, Jarvis D, et al. PTTG1IP and MAML3, novel genomewide association study genes for severity of hyperresponsiveness in adult asthma. Allergy. 2017;72:792-801 pubmed publisher
    ..MAML3 co-expressed significantly with Mastermind-like 2 (MAML2), both involved in Notch signalling. PTTG1IP and MAML3 are associated with BHR severity in adult asthma...
  16. Do D, Schenkel F, Miglior F, Zhao X, Ibeagha Awemu E. Genome wide association study identifies novel potential candidate genes for bovine milk cholesterol content. Sci Rep. 2018;8:13239 pubmed publisher
    ..Additional new potential candidate genes for milk CHL were RXFP1, FAM198B, TMEM144, CXXC4, MAML2 and CDH13...
  17. Singchat W, Hitakomate E, Rerkarmnuaychoke B, Suntronpong A, Fu B, Bodhisuwan W, et al. Genomic Alteration in Head and Neck Squamous Cell Carcinoma (HNSCC) Cell Lines Inferred from Karyotyping, Molecular Cytogenetics, and Array Comparative Genomic Hybridization. PLoS ONE. 2016;11:e0160901 pubmed publisher
    ..The amplification of 2p21 (SIX3), 11p15.5 (H19), and 11q21q22.3 (MAML2, PGR, TRPC6, and MMP family) regions, and deletion of 9p23 (PTPRD) and 16q23...
  18. Rippe C, Zhu B, Krawczyk K, Bavel E, Albinsson S, Sjölund J, et al. Hypertension reduces soluble guanylyl cyclase expression in the mouse aorta via the Notch signaling pathway. Sci Rep. 2017;7:1334 pubmed publisher
    ..enrichment of motifs for RBPJ, a component of the Notch signaling pathway, and the Notch coactivators FRYL and MAML2 were reduced...
  19. Chen Z, Lin S, Li J, Ni W, Guo R, Lu J, et al. CRTC1-MAML2 fusion-induced lncRNA LINC00473 expression maintains the growth and survival of human mucoepidermoid carcinoma cells. Oncogene. 2018;37:1885-1895 pubmed publisher
    ..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...
  20. Kang H, Tan M, Bishop J, Jones S, Sausen M, Ha P, et al. Whole-Exome Sequencing of Salivary Gland Mucoepidermoid Carcinoma. Clin Cancer Res. 2017;23:283-288 pubmed publisher
    ..FISH was used to determine the presence or absence of the MECT1-MAML2 translocation in 17 tumors...
  21. Tingaud C, Costes V, Frouin E, Delfour C, Cribier B, Guillot B, et al. Lymph node location of a clear cell hidradenoma: report of a patient and review of literature. J Cutan Pathol. 2016;43:702-6 pubmed publisher
    ..Ki67 stained less than 1% of tumor cells. A translocation involving MAML2 gene was evidenced by fluorescence in situ hybridization (FISH) analysis...
  22. Radkay Gonzalez L, Faquin W, McHugh J, Lewis J, Tuluc M, Seethala R. Ciliated Adenosquamous Carcinoma: Expanding the Phenotypic Diversity of Human Papillomavirus-Associated Tumors. Head Neck Pathol. 2016;10:167-75 pubmed publisher
    ..carcinoma (MEC), the tumors showed focal keratinizing morphology and atypia, and all tumors were negative for MAML2 rearrangements...
  23. Shinomiya H, Ito Y, Kubo M, Yonezawa K, Otsuki N, Iwae S, et al. Expression of amphiregulin in mucoepidermoid carcinoma of the major salivary glands: a molecular and clinicopathological study. Hum Pathol. 2016;57:37-44 pubmed publisher
    In mucoepidermoid carcinoma (MEC), CRTC1-MAML2 fusion indicates a favorable prognosis...
  24. Azizi M, Pasbakhsh P, Nadji S, Pourabdollah M, Mokhtari T, Sadr M, et al. Therapeutic effect of perinatal exogenous melatonin on behavioral and histopathological changes and antioxidative enzymes in neonate mouse model of cortical malformation. Int J Dev Neurosci. 2018;68:1-9 pubmed publisher
    ..six groups: Control (CO), Melatonin (MEL), Luzindole (LUZ), MAM, MEL + MAM1 (co-treatment), and MEL + MAM2 (pretreatment)...
  25. Merlini L, Khalili B, Bendezú F, Hurwitz D, Vincenzetti V, Vavylonis D, et al. Local Pheromone Release from Dynamic Polarity Sites Underlies Cell-Cell Pairing during Yeast Mating. Curr Biol. 2016;26:1117-25 pubmed publisher
    ..Engagement of pheromone receptors Map3 and Mam2 [3, 4] with their cognate pheromone ligands leads to activation of the Gα protein Gpa1 to signal sexual ..
  26. Wang H, Jiang Z, Zhang J, Xie Z, Wang Y, Yang G. Enhanced osteogenic differentiation of rat bone marrow mesenchymal stem cells on titanium substrates by inhibiting Notch3. Arch Oral Biol. 2017;80:34-40 pubmed publisher
    ..genes (Notch2, Dll1, Dll3, Ncstn, Ncor2, and Hes5) and down-regulated genes (Notch3, Lfng, Mfng, Jag2 and Maml2). With Notch3 shRNA treatment, the adhesion and proliferation of BMSCs on SLA-treated Ti disks were inhibited...
  27. Jin K, Zhou W, Han X, Wang Z, Li B, Jeffries S, et al. Acetylation of Mastermind-like 1 by p300 Drives the Recruitment of NACK to Initiate Notch-Dependent Transcription. Cancer Res. 2017;77:4228-4237 pubmed publisher
    ..NACK is recruited to the ternary complexes containing Maml1 and Maml3, but not Maml2. Simultaneous inhibition of p300/CBP and Notch has a synergistic effect in esophageal adenocarcinoma...
  28. Oide T, Hiroshima K, Takahashi Y, Fugo K, Yamatoji M, Kasamatsu A, et al. Mucoepidermoid carcinoma with extensive spindled morphology and melanocytic marker expression. Hum Pathol. 2017;67:181-186 pubmed publisher
    ..However, reverse-transcription polymerase chain reaction revealed the CRTC3-MAML2 fusion gene product diagnostic of MEC...
  29. Tajima S, Namiki I, Koda K. A clear cell variant of mucoepidermoid carcinoma harboring CRTC1-MAML2 fusion gene found in buccal mucosa: report of a case showing a large clear cell component and lacking typical epidermoid cells and intermediate cells. Med Mol Morphol. 2017;50:117-121 pubmed publisher
    ..Therefore, we performed fluorescence in situ hybridization to determine whether MAML2 rearrangement had occurred in this mass...
  30. Rotellini M, Paglierani M, Pepi M, Franchi A. MAML2 rearrangement in Warthin's tumour: a fluorescent in situ hybridisation study of metaplastic variants. J Oral Pathol Med. 2012;41:615-20 pubmed publisher
    ..to the presence of clonal chromosomal abnormalities, including the t(11;19) translocation involving the CRTC1 and MAML2 genes, that have been identified in both WT and mucoepidermoid carcinoma...
  31. Alexiev B, Jennings L, Samant S, Rao S. Oncocytic papillary cystadenoma with prominent mucinous differentiation of parotid gland: A case report. Pathol Res Pract. 2017;213:1310-1314 pubmed publisher
    ..p63, ER, PR, SOX10, DOG-1, and S100 stains were negative. No rearrangement of the MAML2 gene region or ETV6-NTRK3 fusion transcript was detected...
  32. Lin S, Oyama T, Nagase T, Harigaya K, Kitagawa M. Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling. J Biol Chem. 2002;277:50612-20 pubmed
    ..The multiplicity of Mam proteins in the mammalian system may help provide divergence to the strength of the Notch signals in different cell types. ..
  33. Fehr A, Meyer A, Heidorn K, Röser K, Löning T, Bullerdiek J. A link between the expression of the stem cell marker HMGA2, grading, and the fusion CRTC1-MAML2 in mucoepidermoid carcinoma. Genes Chromosomes Cancer. 2009;48:777-85 pubmed publisher
    ..MECs are often characterized by the fusion gene CRTC1-MAML2, the detection of which is an important tool for the diagnosis and prognosis of MEC...
  34. Zhu F, Wang W, Hou Y, Shi J, Liu Z, He D, et al. MAML2 rearrangement in primary pulmonary mucoepidermoid carcinoma and the correlation with FLT1 expression. PLoS ONE. 2014;9:e94399 pubmed publisher
    ..The latter has been shown to harbor t(11,19) resulting in MECT1-MAML2 fusion, which may be of diagnostic and prognostic values...
  35. Nakano T, Yamamoto H, Hashimoto K, Tamiya S, Shiratsuchi H, Nakashima T, et al. HER2 and EGFR gene copy number alterations are predominant in high-grade salivary mucoepidermoid carcinoma irrespective of MAML2 fusion status. Histopathology. 2013;63:378-92 pubmed publisher
    ..In 31 cases, we examined the MAML2 fusion status using reverse transcriptase-polymerase chain reaction, and HER2 and EGFR status using ..
  36. Luk P, Wykes J, Selinger C, Ekmejian R, Tay J, Gao K, et al. Diagnostic and prognostic utility of Mastermind-like 2 (MAML2) gene rearrangement detection by fluorescent in situ hybridization (FISH) in mucoepidermoid carcinoma of the salivary glands. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016;121:530-41 pubmed publisher
    Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy, with a proportion harboring MAML2 rearrangement. This study evaluates the diagnostic and prognostic utility of MAML2 rearrangement in MEC...
  37. Khan H, Loya A, Azhar R, Din N, Bell D. Central mucoepidermoid carcinoma, a case report with molecular analysis of the TORC1/MAML2 gene fusion. Head Neck Pathol. 2010;4:261-4 pubmed publisher
    ..The latter is not uncommonly associated with diagnostic and management difficulties. We report an example of intraosseous mucoepidermoid carcinoma with positive TORC1/MAML2 gene fusion transcript and discuss the clinical implications.
  38. Kyrpychova L, Kacerovska D, Vanecek T, Grossmann P, Michal M, Kerl K, et al. Cutaneous hidradenoma: a study of 21 neoplasms revealing neither correlation between the cellular composition and CRTC1-MAML2 fusions nor presence of CRTC3-MAML2 fusions. Ann Diagn Pathol. 2016;23:8-13 pubmed publisher
    ..75years; median, 60years) were studied for CRTC1-MAML2 and CRTC3-MAML2 fusions to find out whether there is a correlation between the particular cell type (polyhedral ..
  39. Zhang W, Liu H, Liu Z, Zhu D, Amos C, Fang S, et al. Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma. Cancer Epidemiol Biomarkers Prev. 2015;24:1101-10 pubmed publisher
    ..73-4.23; Ptrend = 9.62 × 10(-7)), followed by NCSTN rs1124379 G>A, NCOR2 rs10846684 G>A, and MAML2 rs7953425 G>A (Ptrend = 0.005, 0.005, and 0.013, respectively)...
  40. Behboudi A, Winnes M, Gorunova L, van den Oord J, Mertens F, Enlund F, et al. Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion. Genes Chromosomes Cancer. 2005;43:202-5 pubmed
    ..k.a. MECT1 and WAMTP1) to the Notch coactivator MAML2. Here we show that a third tumor type, clear cell hidradenoma of the skin, also expresses this gene fusion...
  41. Fehr A, Röser K, Belge G, Löning T, Bullerdiek J. A closer look at Warthin tumors and the t(11;19). Cancer Genet Cytogenet. 2008;180:135-9 pubmed publisher
    ..The translocation creates a fusion gene in which exon 1 of CRTC1 is linked to exons 2-5 of MAML2. To verify the translocation in WT, we performed nested reverse transcriptase-polymerase chain reaction using RNA ..
  42. Argyris P, Wehrs R, García J, Koutlas I. Fluorescence in-situ hybridization identifies Mastermind-like 2 (MAML2) rearrangement in odontogenic cysts with mucous prosoplasia: a pilot study. Histopathology. 2015;66:791-7 pubmed publisher
    ..Furthermore, prosoplastic mucous cells are often seen in the epithelial lining of ODCs. MECT1-MAML2 fusion transcripts have been identified in >66% of salivary gland MEC cases...
  43. Skalova A, Stenman G, Simpson R, Hellquist H, Slouka D, Svoboda T, et al. The Role of Molecular Testing in the Differential Diagnosis of Salivary Gland Carcinomas. Am J Surg Pathol. 2017;: pubmed publisher
    ..The CRTC1-MAML2 fusion gene resulting from a t(11;19)(q21;p13) translocation, is now known to be a feature of both low-grade and ..
  44. Schneider B, Li L, Shen F, Miller K, Radovich M, O NEILL A, et al. Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. Br J Cancer. 2014;111:1241-8 pubmed publisher
    ..037; OR=2.4). A genetic variant in SV2C predicted clinically relevant bevacizumab-induced hypertension in two independent, randomised phase III trials. ..
  45. Nakayama T, Miyabe S, Okabe M, Sakuma H, Ijichi K, Hasegawa Y, et al. Clinicopathological significance of the CRTC3-MAML2 fusion transcript in mucoepidermoid carcinoma. Mod Pathol. 2009;22:1575-81 pubmed publisher
    ..We and others showed that CRTC1-MAML2 gene fusion was associated with favorable clinicopathological tumor features...
  46. Coca Pelaz A, Rodrigo J, Triantafyllou A, Hunt J, Rinaldo A, Strojan P, et al. Salivary mucoepidermoid carcinoma revisited. Eur Arch Otorhinolaryngol. 2015;272:799-819 pubmed publisher
    ..We additionally consider possible diagnostic difficulties, problems related to histological grading and accuracy of existing literature, and areas of controversy or uncertainty which may benefit from further investigations. ..
  47. Skalova A, Vanecek T, Simpson R, Vazmitsel M, Majewska H, Mukensnabl P, et al. CRTC1-MAML2 and CRTC3-MAML2 fusions were not detected in metaplastic Warthin tumor and metaplastic pleomorphic adenoma of salivary glands. Am J Surg Pathol. 2013;37:1743-50 pubmed publisher
    The recurrent translocations t(11;19) and t(11;15) resulting in CRTC1-MAML2 or CRTC3-MAML2 fusion oncogenes, respectively, are identified in a large proportion of mucoepidermoid carcinomas (MECs) of the salivary gland and have impact on ..
  48. Lopes M, Hysi P, Verhoeven V, Macgregor S, Hewitt A, Montgomery G, et al. Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci. 2013;54:1260-7 pubmed publisher
    ..Twin studies of astigmatism have found approximately 60% of phenotypic variance is explained by genetic factors. This study aimed to identify susceptibility loci for astigmatism...
  49. Yang J, Cheng C, Yang W, Pei D, Cao X, Fan Y, et al. Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. JAMA. 2009;301:393-403 pubmed publisher
    ..Pediatric acute lymphoblastic leukemia (ALL) is the prototype for a drug-responsive malignancy. Although cure rates exceed 80%, considerable unexplained interindividual variability exists in treatment response...
  50. Wu L, Sun T, Kobayashi K, Gao P, Griffin J. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. Mol Cell Biol. 2002;22:7688-700 pubmed
    ..In this report, we characterize two additional genes in this Mastermind-like gene family: MAML2 and MAML3...
  51. Chen Z, Chen J, Gu Y, Hu C, Li J, Lin S, et al. Aberrantly activated AREG-EGFR signaling is required for the growth and survival of CRTC1-MAML2 fusion-positive mucoepidermoid carcinoma cells. Oncogene. 2014;33:3869-77 pubmed publisher
    ..The CRTC1-MAML2 fusion oncogene, encoded by a recurring chromosomal translocation t(11;19)(q14-21;p12-13), is a frequent genetic ..
  52. Menu E, Beaufils N, Usseglio F, Balducci E, Lafage Pochitaloff M, Costello R, et al. First case of B ALL with KMT2A-MAML2 rearrangement: a case report. BMC Cancer. 2017;17:363 pubmed publisher
    ..One of its rare fusion partners, the mastermind like 2 (MAML2) gene has been reported in four cases of myeloid neoplasms after chemotherapy so far: two acute ..
  53. Winnes M, Mölne L, Suurküla M, Andrén Y, Persson F, Enlund F, et al. Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas. Genes Chromosomes Cancer. 2007;46:559-63 pubmed
    ..k.a. MECT1, TORC1, or WAMTP1) to the Notch coactivator MAML2 is a characteristic feature of low-grade mucoepidermoid carcinomas of salivary and bronchial glands...
  54. Acunzo M, Romano G, Wernicke D, Balatti V, Rassenti L, Dell Aquila M, et al. Translocation t(2;11) in CLL cells results in CXCR4/MAML2 fusion oncogene. Blood. 2014;124:259-62 pubmed publisher
    ..Here we report a rearrangement between MAML2 (mastermind-like protein 2) and CXCR4 (specific receptor for CXC chemokine stromal cell-derived factor-1) in CLL ..
  55. Yabuki K, Matsuyama A, Shiba E, Nagatani G, Hisaoka M. Sclerosing Mucoepidermoid Carcinoma in the Parotid Gland With CRTC1-MAML2 Fusion: A Case Report. Int J Surg Pathol. 2017;:1066896917742721 pubmed publisher
    ..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...
  56. Bell D, Holsinger C, El Naggar A. CRTC1/MAML2 fusion transcript in central mucoepidermoid carcinoma of mandible--diagnostic and histogenetic implications. Ann Diagn Pathol. 2010;14:396-401 pubmed publisher
    ..The results indicate that central MEC can manifest the fusion transcript. This finding may have diagnostic and histogenetic roles in the future analysis of this entity. ..
  57. Saade R, Bell D, Garcia J, Roberts D, Weber R. Role of CRTC1/MAML2 Translocation in the Prognosis and Clinical Outcomes of Mucoepidermoid Carcinoma. JAMA Otolaryngol Head Neck Surg. 2016;142:234-40 pubmed publisher
    The CRTC1/MAML2 fusion transcript, which arises from the CRTC1/MAML2 translocation, is a molecular marker unique to mucoepidermoid carcinoma (MEC), the most common malignant tumor of the salivary gland...
  58. Kuma Y, Yamada Y, Yamamoto H, Kohashi K, Ito T, Furue M, et al. A novel fusion gene CRTC3-MAML2 in hidradenoma: histopathological significance. Hum Pathol. 2017;70:55-61 pubmed publisher
    ..Recently, CRTC1-MAML2 fusion gene was reported in hidradenomas, with the fusion transcript being demonstrated in approximately 50% of ..
  59. von Holstein S, Fehr A, Persson M, Nickelsen M, Therkildsen M, Prause J, et al. Lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma: genomic profiles, gene fusions, and clinical characteristics. Ophthalmology. 2014;121:1125-33 pubmed publisher
    ..focus on copy number changes and expression patterns of the translocation target genes PLAG1, HMGA2, and CRTC1-MAML2 in relation to clinical data. Experimental study...
  60. Hsieh M, Wang H, Lee Y, Ko J, Chang Y. Reevaluation of MAML2 fusion-negative mucoepidermoid carcinoma: a subgroup being actually hyalinizing clear cell carcinoma of the salivary gland with EWSR1 translocation. Hum Pathol. 2017;61:9-18 pubmed publisher
    ..Mucoepidermoid carcinoma (MEC) with a clear cell component is its morphologic mimic. Using MAML2 fluorescence in situ hybridization (FISH), a total of 49 MEC cases were separated into MAML2 fusion-positive (32 ..
  61. Tirado Y, Williams M, Hanna E, Kaye F, Batsakis J, El Naggar A. CRTC1/MAML2 fusion transcript in high grade mucoepidermoid carcinomas of salivary and thyroid glands and Warthin's tumors: implications for histogenesis and biologic behavior. Genes Chromosomes Cancer. 2007;46:708-15 pubmed
    ..gland tumors including 22 mucoepidermoid carcinomas (MECs) to determine the association of MECT1/TORC1/CRTC1-MAML2 fusion transcript to tumor types, level of MEC differentiation and clinicopathologic parameters...
  62. Necchi A, Eigl B, YANG E, Bae S, Chandrashekar D, Chen D, et al. Gene Expression Profiling of Advanced Penile Squamous Cell Carcinoma Receiving Cisplatin-based Chemotherapy Improves Prognostication and Identifies Potential Therapeutic Targets. Eur Urol Focus. 2018;4:733-736 pubmed publisher
    ..In univariate analysis, upregulated MAML2 (p=0.004), KITLG (p≤0.0001), and JAK1 (p=0...
  63. Amelio A, Fallahi M, Schaub F, Zhang M, Lawani M, Alperstein A, et al. CRTC1/MAML2 gain-of-function interactions with MYC create a gene signature predictive of cancers with CREB-MYC involvement. Proc Natl Acad Sci U S A. 2014;111:E3260-8 pubmed publisher
    ..cAMP response element binding protein (CREB)-regulated transcriptional coactivator 1 (CRTC1)/mastermind-like 2 (MAML2) (C1/M2) oncoprotein comprised of two transcriptional coactivators, the CRTC1 and the NOTCH/RBPJ coactivator MAML2...
  64. Greer R, Eskendri J, Freedman P, Ahmadian M, Murakami Walter A, Varella Garcia M. Assessment of biologically aggressive, recurrent glandular odontogenic cysts for mastermind-like 2 (MAML2) rearrangements: histopathologic and fluorescent in situ hybridization (FISH) Findings in eleven cases. J Oral Pathol Med. 2017;: pubmed publisher
    ..The current investigation evaluates a group of recurrent, biologically aggressive GOCs to determine if any cases demonstrated unique histologic features or Mastermind - like2 (MAML2) rearrangements common to IMEC.
  65. Lubecka K, Kurzava L, Flower K, Buvala H, Zhang H, Teegarden D, et al. Stilbenoids remodel the DNA methylation patterns in breast cancer cells and inhibit oncogenic NOTCH signaling through epigenetic regulation of MAML2 transcriptional activity. Carcinogenesis. 2016;37:656-68 pubmed publisher
    ..b>MAML2, a coactivator of NOTCH targets, is methylated at the enhancer region and transcriptionally silenced in response ..
  66. Bishop J, Cowan M, Shum C, Westra W. MAML2 Rearrangements in Variant Forms of Mucoepidermoid Carcinoma: Ancillary Diagnostic Testing for the Ciliated and Warthin-like Variants. Am J Surg Pathol. 2018;42:130-136 pubmed publisher
    ..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...
  67. Fehr A, Röser K, Heidorn K, Hallas C, Löning T, Bullerdiek J. A new type of MAML2 fusion in mucoepidermoid carcinoma. Genes Chromosomes Cancer. 2008;47:203-6 pubmed
    The present study reports for the first time a CRTC3-MAML2 fusion gene in a mucoepidermoid carcinoma, as determined by RT-PCR and sequencing...
  68. Nagasaki A, Ogawa I, Sato Y, Takeuchi K, Kitagawa M, Ando T, et al. Central mucoepidermoid carcinoma arising from glandular odontogenic cyst confirmed by analysis of MAML2 rearrangement: A case report. Pathol Int. 2017;: pubmed publisher
    ..In MEC of both salivary glands and jaws, MAML2 arrangement has been well known as the specific gene alteration...
  69. Miyabe S, Okabe M, Nagatsuka H, Hasegawa Y, Inagaki A, Ijichi K, et al. Prognostic significance of p27Kip1, Ki-67, and CRTC1-MAML2 fusion transcript in mucoepidermoid carcinoma: a molecular and clinicopathologic study of 101 cases. J Oral Maxillofac Surg. 2009;67:1432-41 pubmed publisher
    ..we investigated the prognostic significance of p27Kip1, Ki-67, and CRTC1 (also called MECT1, TORC1, and WAMTP1)-MAML2 fusion in MEC...
  70. Chiosea S, Dacic S, Nikiforova M, Seethala R. Prospective testing of mucoepidermoid carcinoma for the MAML2 translocation: clinical implications. Laryngoscope. 2012;122:1690-4 pubmed publisher
    Mucoepidermoid carcinoma (MEC) with MAML2 translocation is believed to be associated with lower clinical stage, lower histologic grade, and better outcome. We summarized our prospective experience testing MEC for the MAML2 translocation...
  71. Roden A, Erickson Johnson M, Yi E, Garcia J. Analysis of MAML2 rearrangement in mucoepidermoid carcinoma of the thymus. Hum Pathol. 2013;44:2799-805 pubmed publisher
    ..In this study, we evaluate the value of identifying MAML2 rearrangement by fluorescence in situ hybridization (FISH) to distinguish TMEC from poorly differentiated squamous ..
  72. Salem A, Bell D, Sepesi B, Papadimitrakopoulou V, El Naggar A, Moran C, et al. Clinicopathologic and genetic features of primary bronchopulmonary mucoepidermoid carcinoma: the MD Anderson Cancer Center experience and comprehensive review of the literature. Virchows Arch. 2017;470:619-626 pubmed publisher
    Primary bronchopulmonary mucoepidermoid carcinoma (BPMEC) is a rare tumor. The fusion protein MECT1-MAML2 has been implicated as a causative genetic event in salivary and BPMECs...
  73. Köchert K, Ullrich K, Kreher S, Aster J, Kitagawa M, Johrens K, et al. High-level expression of Mastermind-like 2 contributes to aberrant activation of the NOTCH signaling pathway in human lymphomas. Oncogene. 2011;30:1831-40 pubmed publisher
    ..We detected high-level MAML2 expression in several B cell-derived lymphoma types, including classical Hodgkin lymphoma (cHL) cells, relative to ..
  74. Chen J, Li J, Chen Z, Griffin J, Wu L. Gene expression profiling analysis of CRTC1-MAML2 fusion oncogene-induced transcriptional program in human mucoepidermoid carcinoma cells. BMC Cancer. 2015;15:803 pubmed publisher
    ..The majority of MEC tumors contain a t(11;19) chromosomal translocation that fuses two genes, CRTC1 and MAML2, to generate the chimeric protein CRTC1-MAML2...
  75. Bishop J, Yonescu R, Batista D, Warnock G, Westra W. Glandular odontogenic cysts (GOCs) lack MAML2 rearrangements: a finding to discredit the putative nature of GOC as a precursor to central mucoepidermoid carcinoma. Head Neck Pathol. 2014;8:287-90 pubmed publisher
    ..Differentiating the two lesions may be difficult or impossible on a limited biopsy. MAML2 rearrangements have been recently found to be specific for MEC, even those arising in the jaws...
  76. Birkeland A, Foltin S, Michmerhuizen N, Hoesli R, Rosko A, Byrd S, et al. Correlation of Crtc1/3-Maml2 fusion status, grade and survival in mucoepidermoid carcinoma. Oral Oncol. 2017;68:5-8 pubmed publisher
    ..Tumor stage and grade have historically been important predictors of survival. An oncogenic CRTC1- or CRTC3-MAML2 gene fusion has been identified in a number of MECs...
  77. Makii C, Oda K, Ikeda Y, Sone K, Hasegawa K, Uehara Y, et al. MDM2 is a potential therapeutic target and prognostic factor for ovarian clear cell carcinomas with wild type TP53. Oncotarget. 2016;7:75328-75338 pubmed publisher
    ..033), and the density of microvessels (P = 0.011). Our results highlight the prognostic value of MDM2 expression in clear cell carcinoma. Thus, MDM2 inhibitors such as RG7112 may constitute a class of potential therapeutics. ..
  78. Okumura Y, Miyabe S, Nakayama T, Fujiyoshi Y, Hattori H, Shimozato K, et al. Impact of CRTC1/3-MAML2 fusions on histological classification and prognosis of mucoepidermoid carcinoma. Histopathology. 2011;59:90-7 pubmed publisher
    The aim of study was to evaluate the impact of CRTC1-MAML2 and CRTC3-MAML2 fusions on the histological classification of mucoepidermoid carcinoma (MEC) of the salivary glands and on the prognosis of patients...
  79. Nemoto N, Suzukawa K, Shimizu S, Shinagawa A, Takei N, Taki T, et al. Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23). Genes Chromosomes Cancer. 2007;46:813-9 pubmed
    We have identified a novel fusion partner of MLL, namely the mastermind like 2 (MAML2 gene), in secondary acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) with inv(11)(q21q23)...
  80. Hao Y, Liu X, Lu X, Yang X, Wang L, Chen S, et al. Genome-wide association study in Han Chinese identifies three novel loci for human height. Hum Genet. 2013;132:681-9 pubmed publisher
    ..02 × 10(-10)), MAML2 (rs11021504, P = 7.81 × 10(-9)), and C18orf12 (rs11082671, P = 1.87 × 10(-8))...