Salivary gland-type tumor
2023-05-09 Paola Dal Cin, PhD , Yin (Rex) Hung, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.Massachussetts General Hospital,Harvard Medical School, Boston (MA)
Classification
Definition
Salivary gland-type tumors arising outside of the head and neck areas are uncommon. In the lung, they tend to occur in younger patients, predominantly affect the central airways, and may show a more indolent nature. 1,2 They share the same morphologic features and genetic alterations as their salivary gland counterparts, see WHO2022 Head and Neck Tumours.
| Salivary gland-type tumors | Genetic marker(s) |
|---|---|
| Pleomorphic adenoma (PA) | Rare molecular studies in the lung without documentation of PLAG1 and/or HMGA2 fusion.3 A single case of pulmonary PA with CTNNB1::PLAG1 fusion.4 |
| Adenoid cystic carcinoma (ACC) | (MYB) rearrangement was detected by FISH analysis or NGS in 40-70% of pulmonary ACC.5,6 MYB::NFIB associated with t(6;9)(q22;p23-24) and MYBL1:: NFIB associated with t(6;9)(q22;p23-24) were detected by NGS in tracheobronchial ACC.7 Pulmonary ACCs have shown mutational landscape distinct from non-small cell lung carcinoma and ACC originated from other anatomical sites, mainly in genes participating in chromatin modifications, including KDM6A ,KMT2D, and TET2. 1,8 |
| Epithelial-myoepithelial carcinoma (EMC) | HRAS Q61R mutation can be present in a subset of pulmonary EMCs.9 |
| Mucoepidermoid carcinoma (MEC) | Mainly t(11;19)(q21;p13)CRTC1::MAML2.10 In addition, concurrent genomic alterations were reported, with TP53, PIK3CA, and CDKN2A alterations seen mostly in high-grade tumors.6 Pulmonary MEC patient may respond to EGFR TKI in the absence of EGFR mutation or amplification, due to the action of CRTC1::MAML2 fusion in up-regulating the EGFR ligand, amphiregulin.11-13 |
| Hyalinizing clear cell carcinoma | EWSR1::ATF1 fusion,14 less frequently EWSR1::CREM.15 |
| Myoepithelioma and myoepithelial carcinoma | EWSR1 or FUS rearrangements, with fusion to several different gene partners, including PBX1, ZNF444 and KLF17, have been described in pulmonary myoepithelial tumors.16 Pulmonary myoepithelial carcinomas that lack gene fusions can harbor loss of INI1 secondary to SMARCB1 deficiency.17 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 33744018 | 2021 | Recent updates in salivary gland tumors of the lung. | Roden AC et al |
| 2 | 34673911 | 2021 | Salivary Gland-type Tumors of the Lung. | Wang M et al |
| 3 | 28796899 | 2018 | PLAG1 immunohistochemistry is a sensitive marker for pleomorphic adenoma: a comparative study with PLAG1 genetic abnormalities. | Katabi N et al |
| 4 | 32307573 | 2020 | Identification of CTNNB1-PLAG1 gene rearrangement in a patient with pulmonary pleomorphic adenoma. | Asahina M et al |
| 5 | 26309189 | 2015 | Histopathologic and Cytogenetic Features of Pulmonary Adenoid Cystic Carcinoma. | Roden AC et al |
| 6 | 34364112 | 2021 | Mutational landscape of primary pulmonary salivary gland-type tumors through targeted next-generation sequencing. | Wang F et al |
| 7 | 31028361 | 2019 | Detecting MYB and MYBL1 fusion genes in tracheobronchial adenoid cystic carcinoma by targeted RNA-sequencing. | Pei J et al |
| 8 | 30067437 | 2018 | Mutational landscape and clonal diversity of pulmonary adenoid cystic carcinoma. | Li M et al |
| 9 | 30994537 | 2019 | Diagnostic Significance of HRAS Mutations in Epithelial-Myoepithelial Carcinomas Exhibiting a Broad Histopathologic Spectrum. | Urano M et al |
| 10 | 24743219 | 2014 | Histopathologic, immunophenotypic and cytogenetic features of pulmonary mucoepidermoid carcinoma. | Roden AC et al |
| 11 | 19185385 | 2009 | Gefitinib as targeted therapy for mucoepidermoid carcinoma of the lung: possible significance of CRTC1-MAML2 oncogene. | O'Neill ID et al |
| 12 | 23975434 | 2014 | Aberrantly activated AREG-EGFR signaling is required for the growth and survival of CRTC1-MAML2 fusion-positive mucoepidermoid carcinoma cells. | Chen Z et al |
| 13 | 26148572 | 2017 | Pathological complete response to gefitinib in a 10-year-old boy with EGFR-negative pulmonary mucoepidermoid carcinoma: a case report and literature review. | Li S et al |
| 14 | 29434341 | 2018 | Hyalinizing clear cell carcinoma of the bronchial glands: presentation of three cases and pathological comparisons with salivary gland counterparts and bronchial mucoepidermoid carcinomas. | Takamatsu M et al |
| 15 | 29975250 | 2018 | Molecular Profiling of Hyalinizing Clear Cell Carcinomas Revealed a Subset of Tumors Harboring a Novel EWSR1-CREM Fusion: Report of 3 Cases. | Chapman E et al |
| 16 | 26645726 | 2016 | Thoracic Myoepithelial Tumors: A Pathologic and Molecular Study of 8 Cases With Review of the Literature. | Leduc C et al |
| 17 | 34111706 | 2021 | Primary high-grade myoepithelial carcinoma of the lung: A study of three cases illustrating frequent SMARCB1-deficiency and review of the literature. | Agaimy A et al |
Citation
Paola Dal Cin, PhD ; Yin (Rex) Hung, MD
Salivary gland-type tumor
Atlas Genet Cytogenet Oncol Haematol. 2023-05-09
Online version: http://atlasgeneticsoncology.org/solid-tumor/209128/salivary-gland-type-tumor
