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Updated: Jun 25, 2026
Manipulating the Murine Lacrimal Gland
Published on: November 18, 2014
Molecular characterisation of tumours of the lacrimal apparatus
Roseline Vibert1, Joanna Cyrta2, Elodie Girard3
1Pharmacogenomics Unit, Department of Genetics, Institut Curie, PSL Research University, Paris, France.
Aims:
Malignant tumours of the lacrimal apparatus are rare and frequently show a poor prognosis, with no clear therapeutic standards. Characterisation of the genetic landscape of these rare tumours is sparse, and therefore therapeutics generally follow those of their common salivary gland counterparts. To further clarify the pathophysiology and discover potential therapeutic targets, we investigated the genetic landscape of eight tumours of the lacrimal apparatus.
Methods And Results:
DNA and RNA sequencing were performed to identify genetic mutations and gene fusions. Immunohistochemistry, fluorescence in-situ hybridisation and reverse transcription-polymerase chain reaction followed by Sanger sequencing were performed to confirm the identified molecular alterations. Genetic alterations were detected in six tumours. Among five adenoid cystic carcinomas (ACC), four had confirmed alterations of MYB or MYBL1 genes, including a MYB::NFIB fusion, a MYBL1::NFIB fusion, a MYB amplification and a novel NFIB::THSD7B fusion. Mutations in genes encoding epigenetic modifiers, as well as NOTCH1, FGFR2 and ATM mutations, were also identified in ACCs. A carcinoma ex pleomorphic adenoma showed TP53 and CIC mutations and an amplification of ERBB2. A transitional cell carcinoma was associated with HPV16 infection. No genetic alteration was found for one adenocarcinoma, not otherwise specified.
Conclusions:
Our study highlights the variety of molecular alterations associated with lacrimal system tumours and emphasises the importance of molecular testing in these tumours, which can reveal potentially targetable mutations. Our results also reinforce the hypothesis of a common physiopathology of all ACCs, regardless of their primary location.
Insights
Genetic analysis of rare lacrimal apparatus tumours revealed significant molecular alterations, including MYB/MYBL1 gene fusions in adenoid cystic carcinomas (ACC), suggesting common pathophysiology for ACCs and highlighting the need for molecular testing to identify therapeutic targets.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Malignant tumours of the lacrimal apparatus are rare with poor prognosis and undefined therapeutic standards.
- Current treatments often mirror those for salivary gland cancers due to sparse genetic characterization of lacrimal tumours.
Purpose of the Study:
- To investigate the genetic landscape of lacrimal apparatus tumours.
- To identify potential therapeutic targets and clarify tumour pathophysiology.
Main Methods:
- DNA and RNA sequencing were employed to detect genetic mutations and fusions.
- Immunohistochemistry, FISH, and RT-PCR with Sanger sequencing were used for confirmation.
Main Results:
- Genetic alterations were found in six of eight lacrimal tumours.
- Four of five adenoid cystic carcinomas (ACC) showed MYB or MYBL1 alterations, including fusions and amplification.
- Other identified alterations included epigenetic modifier mutations, NOTCH1, FGFR2, ATM, TP53, CIC mutations, ERBB2 amplification, and HPV16 infection.
Conclusions:
- Lacrimal system tumours exhibit diverse molecular alterations.
- Molecular testing is crucial for identifying targetable mutations in these rare cancers.
- Findings support a shared pathophysiology across ACCs, irrespective of location.
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