Mucoepidermoid carcinoma may be devoid of squamoid cells by immunohistochemistry: expanding the histologic and immunohistochemical spectrum of MAML2- rearranged salivary gland tumours

Mucoepidermoid carcinoma (MEC) is historically defined by a mix of squamoid, intermediate, and mucous cells, but we have recently encountered several cases lacking immunoreactivity for squamous markers p40, p63, and CK5/6 despite MAML2 fusions. This study will characterise these unique tumours. Ten MEC were collected arising from the parotid gland (n = 4), submandibular gland (n = 2), nasopharynx (n = 1), base of tongue (n = 1), bronchus (n = 1), and trachea (n = 1). Six tumours were low-grade, two intermediate-grade, one high-grade, and one demonstrated low-grade areas with high-grade transformation. Four cases were oncocytic, four had clear-cell features, two had spindle cell features, and one high-grade MEC had prominent solid, cord-like, and micropapillary features. The tumours were negative for p40 (10/10), p63 (10/10), and CK5/6 (9/9). Targeted RNA sequencing demonstrated CRTC1::MAML2 in five cases, CRTC3::MAML2 in two, and a novel MAML2::CEP126 in the unusual high-grade case. In two cases with insufficient RNA, MAML2 fluorescence in situ hybridisation (FISH) showed rearrangement. Genetically-confirmed MEC may lack overt squamous differentiation by histology and immunohistochemistry. While most cases harboured canonical fusions and fit within the spectra of MEC variants with oncocytic, clear cell, and/or spindle cell features, one had a novel MAML2::CEP126 fusion and unusual morphology. In MEC without squamoid cells, the use of immunohistochemistry may hinder, rather than aid, the correct diagnosis. In such cases, MAML2 analysis is most useful. The historical definition of MEC as a carcinoma with squamoid, intermediate and mucous cells should be revisited.     

A basaloid tumour of the parotid gland

Basal cell adenocarcinoma is a malignant basaloid tumour most seen in the parotid gland. This case report and subsequent discussion highlights the key diagnostic findings seen in this rare tumour.     

Repeatability and reproducibility of Cobra HD fundus camera meibography in young adults with and without symptoms of dry eye

Purpose

The inter-session repeatability (ISR), inter-examiner reproducibility (IER) and within-subject variability (WSV) of the Cobra HD fundus camera meibographer were examined in participants with and without dry eye symptoms.

Methods

Symptoms were determined based on Ocular Surface Disease Index scores (≥13 being considered symptomatic), and subgroups were compared using the Mann–Whitney U-test. Images of meibomian glands (MGs) from the upper and lower right eyelids were captured by two examiners on the same day (S1) to determine IER. One examiner repeated the measurements on a second day (S2) to obtain the ISR. ISR, IER and WSV were calculated using Friedman, correlation tests and Bland and Altman analyses with mean differences (md) and 95% confidence intervals (CIs), within-subject standard deviations (Sw) and intra-class correlation coefficients (ICC).

Results

The ISR experiment included 72 participants (mean age: 23 ± 5 years, range: 19–43, 36 symptomatic). Mean MG loss of the upper (S1: 13.5 ± 9.5%, S2: 12.8 ± 8.5%) and lower eyelids (S1: 7.5 ± 6.9%, S2: 7.3 ± 6.3%) was not significantly different between sessions for all participants, symptomatic and asymptomatic subgroups for both eyelids. The ISR Sw for the upper and lower eyelids was 1.3% and 1.0%; md was 0.7 ± 3.5% (CI:−6.25% to 7.62%) and 0.1 ± 2.1% (CI: −3.94% to 4.17%), respectively. The IER experiment included 74 participants (mean age: 23 ± 5 years, range: 19–43, 37 symptomatic). Mean MG loss of the upper (Examiner 1: 12.7 ± 8.2%, Examiner 2: 13.1 ± 8.0%) and lower eyelids (Examiner 1: 7.0 ± 6.2%, Examiner 2: 7.4 ± 6.2%) was not significantly different between examiners for all participants, symptomatic and asymptomatic subgroups for both eyelids. The IER ICC values were >0.86 for all conditions, Sw was 1.3% and 1.2%, with a md of −0.4 ± 3.2% (CI: −6.65% to 5.90%) and −0.4 ± 2.9% (CI: −6.15% to 5.31%), respectively. The WSV Sw values were <1.4%, and ICC values were >0.89 for both eyelids, examiners and experimental sessions.

Conclusions

The Cobra HD fundus camera demonstrates good repeatability, reproducibility and low WSV, and is a reliable clinical instrument for meibography.