Spindle Cell Mucoepidermoid Carcinoma of the Palatine Tonsil With <i>CRTC1-MAML2</i> Fusion Transcript: Report of a Rare Case in a 17-Year-Old Boy and a Review of the Literature

Goh, Giap Hean; Lim, Chwee Ming; Vanacek, Tomas; Michal, Michal; Petersson, Fredrik

doi:10.1177/1066896917714890

Cited by 17 publications

(11 citation statements)

References 14 publications

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“…5,6 The prevalence of the CRTC1-MAML2 translocation was 33.7% to 69.7% in MEC and associated with better survival rates. 7 Many rare morphologic variant of MEC cases were confirmed by the detection of MAML2 rearrangement, such as clear cell variant, 8 spindle cell variant, 9 Warthin-like variant, 10 as well as our case. And we believe, as the detection of MAML2 gene rearrangement become more available, more rare MEC cases will be found in the future.…”

Section: Discussionsupporting

confidence: 76%

A Case Report of Mucoepidermoid Carcinoma With Extensive Keratinization in Parotid: Expanding the Morphologic Spectrum

Kong

Wang

et al. 2021

Int J Surg Pathol

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Mucoepidermoid carcinoma (MEC) is the most common malignant tumor of salivary glands in children and young adults. Typically, it is composed of squamoid, mucin-producing and intermediate-types cells. However, overt keratinization is rare. To the best of our knowledge, extensive keratinization or keratin pearls in MEC has never been reported. Keratinization or keratin pearls are regard “practically never seen in low-grade MEC”. Herein, we report a case of a 34-year-old woman who presented with a tumor in right parotid gland for 2 months. Microscopically, the tumor was composed of extensive squamous cells with overt keratin pearls, intermediate cells and few scattered mucous cells. MAML2 gene break-apart and CRTC1-MAML2 gene fusion were detected by fluorescence in situ hybridization. This is the first report to describe a MEC case with extensive squamous metaplasia and overt keratin pearls formation, which expands the morphologic spectrum of MEC.

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Section: Discussionsupporting

confidence: 76%

A Case Report of Mucoepidermoid Carcinoma With Extensive Keratinization in Parotid: Expanding the Morphologic Spectrum

Kong

Wang

et al. 2021

Int J Surg Pathol

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“…MEC have also been reported in the lacrimal gland, oesophagus, lung, pleura, thymus, thyroid, pancreas, penis, tonsils and skin . Morphological features are similar regardless of site, with tumours characterised by variably sized circumscribed cystic to solid nests and nodules of multiple cell populations and prominent extracellular mucin.…”

Section: Introductionmentioning

confidence: 95%

“…4,6,7 MEC have also been reported in the lacrimal gland, oesophagus, lung, pleura, thymus, thyroid, pancreas, penis, tonsils and skin. [8][9][10][11][12][13][14][15][16][17] Morphological features are similar regardless of site, with tumours characterised by variably sized circumscribed cystic to solid nests and nodules of multiple cell populations and prominent extracellular mucin. Intermediate/basaloid, epidermoid/squamoid and mucinous cells are present in varying proportions, although some authors differentiate these into four cell types.…”

Section: Introductionmentioning

confidence: 99%

CRTC1–MAML2 fusion in mucoepidermoid carcinoma of the breast

et al. 2018

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Aims Mucoepidermoid carcinomas (MEC) are the most common malignant neoplasms of salivary glands, but are uncommon in other sites. Salivary gland MEC are most frequently associated with CRTC1–MAML2 translocations. Exceedingly rare MEC of the breast demonstrate a basal‐like and often triple (oestrogen and progesterone receptor, HER2)‐negative immunophenotype, with a single case previously reported to show MAML2 rearrangement, although the fusion partner was not known. Comprehensive genomic studies of breast MEC are lacking. In this study, we analysed the immunophenotype and molecular landscape of two breast MEC to elucidate the pathogenesis of these rare tumours. Methods and results Two breast MEC were subjected to capture‐based next‐generation DNA sequencing of 479 cancer‐related genes. The presence of the CRTC1–MAML2 fusion transcript was interrogated by reverse transcriptase–polymerase chain reaction. In addition, the immunoprofiles of breast MEC were compared to salivary gland MEC. Both breast MEC harboured CRTC1–MAML2 fusions. In contrast to most triple‐negative breast carcinomas of no special type, the mutational burden of MEC was very low, with one case demonstrating only an inactivating SETD2 mutation, and the other harbouring no somatic variants in genes on the panel. No copy number alterations were identified. The immunoprofiles of breast and salivary gland MEC were overlapping, but not identical. Conclusions The findings highlight MEC as a breast cancer subtype more closely related to its salivary gland counterpart than to basal‐like/triple‐negative breast cancers of no special type.

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“…MEC cases were classified as follows: classical, clear cell, oncocytic, Warthin-like, spindle cell, sclerosing, central and others. 1,[12][13][14][15][16][17] In addition, high-grade transformation 18 and the recently described ciliated 19 and mucoacinar 20 variants were included in the variant list. In this process, central MEC was classified according to the site (intraosseous), and the other variants were classified according to the tumour histology.…”

Section: T U M O U R C L a S S I F I C A T I O Nmentioning

confidence: 99%

Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3‐MAML2 fusions, and clinicopathological features

et al. 2021

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Aims: To investigate the histological diversity of salivary mucoepidermoid carcinoma (MEC), its clinicopathological features, and its associations with CRTC1/ 3-MAML2 fusions. Methods and results: Salivary MEC cases (n = 177) were examined for CRTC1/3-MAML2 fusions, histological variants were classified, and tumours were graded according to four different grading systems. Adverse histological features considered to be unusual in MEC were also investigated. Of the 177 MEC cases, 110 were positive for CRTC1/3-MAML2 fusions. The classical variant was the most frequent in the fusion-positive case group, the fusion-negative case group, and the total case group. The clear/oncocytic variant was the second most frequent in the fusion-positive and total case groups. Oncocytic, Warthin-like and spindle variants were seen

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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

Cited by 17 publications

References 14 publications

A Case Report of Mucoepidermoid Carcinoma With Extensive Keratinization in Parotid: Expanding the Morphologic Spectrum

A Case Report of Mucoepidermoid Carcinoma With Extensive Keratinization in Parotid: Expanding the Morphologic Spectrum

CRTC1–MAML2 fusion in mucoepidermoid carcinoma of the breast

Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3‐MAML2 fusions, and clinicopathological features

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