A new type of <i>MAML2</i> fusion in mucoepidermoid carcinoma

Fehr, André; Röser, Kerstin; Heidorn, Klaus; Hallas, Cora; Löning, Thomas; Bullerdiek, Jörn

doi:10.1002/gcc.20522

Cited by 98 publications

(93 citation statements)

References 17 publications

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“…The breakpoints of CRTC2 and CRTC3 were set so that the exon 1 (CRTC2 and CRTC3) was fused to MAML2 exon 2. 7,11 No CRTC2-MAML2 fusion has been reported, but we assumed that CRTC2 exon 1 would fuse to MAML2 exon 2, based on the homology between CRTC1, CRTC2, and CRTC3 genes and the constant breakpoint of the MAML2 gene when involved in creating the fusion.…”

Section: Fusion Transcriptsmentioning

confidence: 99%

“…8,9 In the CRTC family, there are two other CRTC1-related human genes, CRTC2 at 1q21 and CRTC3 at 15q26, and the CRTC1 gene has 32% homology with CRTC2 and CRTC3 genes. 10 Recently, Fehr et al 11 screened 66 mucoepidermoid carcinomas and found that the same part of the MAML2 gene that participates in CRTC1-MAML2 fusion was fused to the CRTC3 gene in a case involving a middle-aged woman. However, the frequency and clinicopathological significance of the CRTC3-MAML2 fusion remains to be clarified.…”

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confidence: 99%

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Clinicopathological significance of the CRTC3–MAML2 fusion transcript in mucoepidermoid carcinoma

et al. 2009

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Mucoepidermoid carcinoma is the most common primary malignancy of the salivary gland. We and others showed that CRTC1-MAML2 gene fusion was associated with favorable clinicopathological tumor features. Recently, a novel gene fusion, CRTC3-MAML2, was reported as a rare gene alteration in a case of mucoepidermoid carcinoma. However, its frequency and clinicopathological significance remains unclear. In all, 101 cases of mucoepidermoid carcinoma and 89 cases of non-mucoepidermoid carcinoma of the salivary gland were analyzed, and RNA was extracted from formalin-fixed, paraffin-embedded specimens. In the CRTC family, there have been three genes, CRTC1, CRTC2, and CRTC3. We developed reverse transcriptionpolymerase chain reaction (RT-PCR) assays for CRTC1-MAML2, CRTC2-MAML2, and CRTC3-MAML2 fusions. Clinicopathological data of the patients were obtained from their clinical records. Of 101 cases of mucoepidermoid carcinoma, 34 (34%) and 6 (6%) were positive for CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts. However, in the 89 cases of non-mucoepidermoid carcinoma, neither transcript was noted. In the former cases, CRTC1-MAML2 and CRTC3-MAML2 fusions were mutually exclusive. The other fusion, CRTC2-MAML2, was not detected. We confirmed that the clinicopathological features of CRTC1-MAML2-positive mucoepidermoid carcinomas indicated an indolent course. CRTC3-MAML2-positive mucoepidermoid carcinomas also had clinicopathologically favorable features; all cases showed a less advanced clinical stage, negative nodal metastasis, no high-grade tumor histology, and no recurrence or tumor-related death after surgical resection of the tumor. It is interesting to note that patients with CRTC3-MAML2-positive tumors (mean 36 years of age) were significantly younger that those with the CRTC1-MAML2 fusion (55 years) and those with fusionnegative tumors (58 years). In conclusion, CRTC3-MAML2 fusion, which is mutually exclusive with CRTC1-MAML2 fusion and specific to mucoepidermoid carcinoma, may be detected more frequently than previously expected. Mucoepidermoid carcinomas possessing CRTC3-MAML2 fusion may be associated with favorable clinicopathological features and patients may be younger than those with CRTC1-MAML2 fusion or those with no detectable gene fusion. Keywords: mucoepidermoid carcinoma; CRTC3-MAML2 fusion; clinicopathological study; prognosis Mucoepidermoid carcinoma, representing 5% of all salivary gland tumors and 20% of the malignant forms, is the most frequent primary malignancy of the salivary gland in both adults and children.

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Section: Fusion Transcriptsmentioning

confidence: 99%

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confidence: 99%

Clinicopathological significance of the CRTC3–MAML2 fusion transcript in mucoepidermoid carcinoma

et al. 2009

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“…MAML2 rearrangement is observed in more than half of salivary MEC cases, is specific for salivary MEC, and predicts a favorable prognosis [24][25][26][27]. However, MAML2 by FISH was intact in all three of our cases.…”

Section: Discussionmentioning

confidence: 53%

Thyroid sclerosing mucoepidermoid carcinoma with eosinophilia distinct from the salivary type

et al. 2018

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Abstract. 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. Nodal metastasis was not found in any of the three cases. Neither regional recurrences nor distant metastases were found in any patient during the follow-up, which was 20 years, 3 years, and 18 months, respectively. Histologically, tumors were composed of epidermoid carcinoma cells, intermediate type carcinoma cells, and goblet cell-type mucus-secreting carcinoma cells, with all tumors displaying a sclerotic stroma with eosinophilic and lymphocytic infiltration. The formation of eosinophilic abscess in the tumor nests that might be a novel characteristic finding of SMECE was observed. Immunohistochemically, the carcinoma cells were positive for cytokeratin 34βE12, TTF-1, and PAX8, but negative for thyroglobulin. In two cases, increased IgG4-positive plasma cells were observed. Mastermind-like transcriptional coactivator 2 (MAML2), according to fluorescence in situ hybridization, was intact in all cases. In conclusion, thyroid SMECE has favorable outcomes and seems to be genetically different from salivary MEC. This is the first report to describe the presence of increased IgG4-positive plasma cells in the stroma of SMECE. [16]. The prognosis of this malignancy is favorable, although nodal metastases, extrathyroidal invasion, vascular invasion, and perineural invasion are common [12]. We encountered three patients with this rare sclerotic variant of MEC. The aims of this report were to describe the clinicopathological findings, including results from immunohistochemical and fluorescence in situ hybridization (FISH) analysis of thyroid SMECE, as well as to discuss the distinction between thyroid SMECE and its salivary counterpart.

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“…HCCC is a rare, low-grade tumor with a good prognosis. A disease-defining translocation in the Ewing sarcoma RNA-binding protein 1 (EWSR1) gene was identified in more than 80% of HCCCs (33). A t(12;22)(q13;q12) translocation produces the most common fusion transcript consisting of the genes EWSR1 and activating transcription factor 1 (ATF1) (28).…”

Section: Gene Translocations and Gene Fusionsmentioning

confidence: 99%

Secretory carcinoma — impact of translocation and gene fusions on salivary gland tumor

Inaki

Abe

Zong

et al. 2017

Chinese Journal of Cancer Research

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A new type of MAML2 fusion in mucoepidermoid carcinoma

Cited by 98 publications

References 17 publications

Clinicopathological significance of the CRTC3–MAML2 fusion transcript in mucoepidermoid carcinoma

Clinicopathological significance of the CRTC3–MAML2 fusion transcript in mucoepidermoid carcinoma

Thyroid sclerosing mucoepidermoid carcinoma with eosinophilia distinct from the salivary type

Secretory carcinoma — impact of translocation and gene fusions on salivary gland tumor

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