1. It is, to our knowledge, the first case of B acute lymphoblastic leukemia with this fusion gene. At the molecular level, two rearrangements were detected using RNA sequencing juxtaposing exon 7 to exon 2 and exon 9 to intron 1-2 of the KMT2A and MAML2 genes respectively, and one rearrangement using Sanger sequencing juxtaposing exon 8 and exon 2. PMID: 28535805
2. we demonstrated that MDM2 is frequently overexpressed in clear cell carcinomas, and that MDM2 overexpression is associated with poor prognosis. PMID: 27659536
3. Warthin-like mucoepidermoid carcinoma (MEC), and now a ciliated form of MEC, are newly described variants of a common salivary gland carcinoma. MAML2 rearrangements were identified in all cases. These unusual variants appear to consistently harbor MAML2 fusions-a finding that establishes a clear link to conventional MEC. PMID: 28877061
4. MECT1-MAML2 fusion transcript is a driver genetic event in the pathogenesis of primary bronchopulmonary mucoepidermoid carcinoma PMID: 28343305
5. A subgroup of MAML2 fusion-negative mucoepidermoid carcinomas are actually clear cell carcinoma of the salivary gland with EWSR1 translocation. PMID: 27769871
6. This condensed chromatin structure is associated with binding of DNMT3B and decreased occupancy of OCT1 transcription factor at MAML2 enhancer, suggesting a role of DNMT3B in increasing methylation of MAML2 after stilbenoid treatment. PMID: 27207652
7. MAML2 rearrangement is common and specific for MEC, which makes it a useful diagnostic tool. MAML2 rearrangement also predicts a favorable prognosis. PMID: 27068311
8. Detection of the CRTC1/MAML2 fusion transcript provides useful information for MEC diagnosis but is not associated with differences in survival outcomes. PMID: 26796488
9. The molecular basis underlying CRTC1-MAML2 oncogenic functions were identified in mucoepidermoid carcinoma cells. PMID: 26503699
10. SNPs in Notch pathway genes may be predictors of cutaneous melanoma disease-specific survival. PMID: 25953768
11. We identified MAML2 rearrangements in five of nine odontogenic cysts lined by mucus-secreting cells PMID: 25123064
12. Translocation t(11;19)(q14-21;p12-13) in patients with Salivary mucoepidermoid carcinoma was reported , which results in fusion between exons 1 and 2 of MAML2 on chromosome 11q21.Fusion positive, MAML2 re-arrangements are present in 50-70 % of MECs. PMID: 24771140
13. The high sensitivity and specificity of MAML2 rearrangement for central mucoepidermoid carcinoma points to its utility as a diagnostic adjunct in separating mucinous cystic lesions of the gnathic bones. PMID: 24647913
14. MAML2 rearrangement appears frequent in PMEC and specific with this tumor. Both the presence of MAML2 rearrangement and absence of FLT1 tend to confer a favorable clinical outcome. PMID: 24714697
15. Malignant mucoepidermoid salivary gland tumors can arise from a recurrent t (11, 19)(q21;p13.1) translocation that generates an unusual chimeric CRTC1/MAML2 oncoprotein. PMID: 25071166
16. The rearrangement between MAML2 and CXCR4, created by a t(2;11)(q22.1;q21) translocation, results in a new fusion gene in which a portion of CXCR4 is linked to the MAML2 gene. PMID: 24855209
17. aberrantly activated AREG-EGFR signaling is required for CRTC1-MAML2-positive MEC cell growth and survival, suggesting that EGFR-targeted therapies will benefit patients with advanced, unresectable CRTC1-MAML2-positive MEC. PMID: 23975434
18. Lacrimal and salivary gland PAs and Ca-ex-PAs have similar genomic profiles and frequently overexpress the PLAG1 oncoprotein. Copy number gains involving 9p23-p22.3 (NFIB) and 22q12-qter (PDGFB) may be of importance for disease progression. PMID: 24468654
19. high-grade salivary mucoepidermoid carcinoma comprises a heterogeneous group of tumours in terms of molecular pathogenesis, in particular MAML2 fusion status PMID: 23855785
20. using FISH to identify MAML2 rearrangement is a valuable diagnostic tool in the evaluation of thymic malignancies, specifically, distinguishing mucoepidermoid carcinoma from squamous cell carcinoma and adenosquamous carcinoma. PMID: 24134933
21. presence of small subpopulation of cells carrying MAML2 rearrangement in areas of squamous metaplasia in WT could predispose lesions to malignant transformation in mucoepidermoid carcinoma and could represent molecular link between the 2 entities. PMID: 22582766
22. The presence of the MAML2 gene split defines a distinct mucoepidermoid carcinoma subset that is associated clinicopathologically with favorable tumor features. PMID: 23035786
23. The lack of significant correlation with histologic grade or pathologic stage implies that the previously reported prognostic value of the MAML2 translocation may be an artifact of misclassification of MEC as other tumors. PMID: 22833306
24. The presence of MAML2 rearrangement can be used as supportive evidence to distinguish oncocytic mucoepidermoid carcinoma from other oncocytic lesions. PMID: 21777943
25. in line with the essential role of MAML proteins for assembly and activity of the NOTCH transcriptional complex (NTC), we show that MAML-derived small-peptide constructs block NOTCH activity and disrupt NTC formation in vitro PMID: 21119597
26. The t(11;19) translocation and its CRTC1/MAML1 fusion transcript have been identified in mucoepidermoid carcinomas at different sites and are believed to be associated with the development of a subset of these tumors. PMID: 21074686
27. We report an example of intraosseous mucoepidermoid carcinoma with positive TORC1/MAML2 gene fusion transcript and discuss the clinical implications. PMID: 20625861
28. MECT1/MAML2 translocation status may be important prognostically in salivary mucoepidermoid carcinomas, but it does not seem to override traditional clinicopathologic parameters. PMID: 20588178
29. cloning of a novel fusion gene in mucoepidermoid carcinomas & benign Warthin's tumors; the fusion, which results from a translocation, creates a chimeric gene in which exon 1 of a novel gene designated WAMTP1 is linked to exons 2-5 of MAML2 [WAMPT1] PMID: 14720503
30. The MECT1-MAML2 fusion transcript may be specific to mucoepidermoid carcinoma and associated with a distinct mucoepidermoid carcinoma subset that exhibits favorable clinicopathologic features and an indolent clinical course. PMID: 16818685
31. The present and previous observations indicate that the CRTC1-MAML2 fusion is etiologically linked to benign and low-grade malignant tumors originating from diverse exocrine glands rather than being linked to a separate tumor entity. PMID: 17334997
32. CRTC1/MAML2 transcript may be detected in both low and high grade mucoepidermoid carcinoma (MEC), that fusion negative tumors may define a subset of biologically aggressive MEC's tumors PMID: 17437281
33. MAML2 involving a chimeric gene might contribute to carcinogenesis in multiple neoplasms by the disruption of NOTCH signaling. PMID: 17551948
34. The presence of the t(11;19)(q21;p13) rearrangement favors a diagnosis of mucoepidermoid carcinoma. PMID: 18206539
35. MAML2 and MECT1 fusion product can be detected by fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction analysis performed on low- and high-grade primary bronchopulmonary mucoepidermoid carcinoma PMID: 19269006
36. Mucoepidermoid carcinomas are often characterized by the fusion gene CRTC1-MAML2. The mean expression level of an embryonic stem cell marker, HMGA2 was studied and found to be higher in fusion negative than in positive tumors. PMID: 19521953
37. CRTC1-MAML2 fusion was associated with favorable clinicopathologic tumor features and was useful in predicting the overall survival of patients with salivary gland mucoepidermoid carcinoma PMID: 19531414
38. cloning and functional analyses of the t(11;19) fusion oncogene t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. PMID: 12539049

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A chromosomal aberration involving MAML2 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with CRTC1. The fusion protein consists of the N-terminus of CRTC1 joined to the C-terminus of MAML2. The reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of CRTC1 has been detected in a small number of mucoepidermoid carcinomas.

Nucleus speckle. Note=Nuclear, in a punctate manner.

Mastermind family

Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle.

HGNC: 16259

OMIM: 607537

KEGG: hsa:84441

STRING: 9606.ENSP00000412394

UniGene: Hs.371096