A Subset of Salivary Intercalated Duct Lesions Harbors Recurrent CTNNB1 and HRAS Mutations: A Molecular Link to Basal Cell Adenoma and Epithelial-Myoepithelial Carcinoma?

McLean, Anne; Rooper, Lisa M.; Gagan, Jeffrey; Thompson, Lester D.�R.; Bishop, Justin A.

doi:10.1007/s12105-022-01513-x

Cited by 5 publications

(2 citation statements)

References 34 publications

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“…This is in line with the literature describing these mutations primarily in EMC 25 and SDC, 26 as well as in intraductal carcinoma 27 . HRAS mutations have been rarely described in benign lesions, encompassing intercalated duct lesions, 28 ductal papillomas, 29 and sclerosing polycystic adenoma 30 . The first two, however, typically show a distinct context with small size and oral location, respectively.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis using SalvGlandDx improves risk of malignancy estimation and diagnosis of salivary gland cytopathology: An exploratory multicenter study

Freiberger,

Ikenberg,

van Egmond

et al. 2024

Cancer Cytopathology

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BackgroundDiagnosis of salivary gland neoplasms is challenging, especially on cytological specimens acquired by fine‐needle aspiration. The recently implemented standardized Milan system for reporting salivary gland cytopathology provides an estimated risk of malignancy (ROM); yet, for two of the categories, the diagnosis of the lesion remains unclear. However, a precise diagnosis is desirable for optimal patient management, including planning of surgery and imaging procedures.MethodsCytological specimens (n = 106) were subjected to molecular analysis using the SalvGlandDx panel. The risk of malignancy was calculated for each detected alteration based on the diagnosis of the resection specimen. By taking into account the molecular alterations, their associated ROM, the clinical and cytological features, and the current literature, the Milan category was evaluated.ResultsOf n = 63 technically valid cases, 76% revealed a molecular alteration. A total of 94% of these molecularly altered cases could be assigned to a different Milan category when additionally taking molecular results into account. In only 2% of the salivary gland neoplasms of uncertain malignant potential, in which a molecular alteration was detected, the classification remained salivary gland neoplasms of uncertain malignant potential.ConclusionMolecular analysis of cytological specimens provides a benefit in classifying salivary gland neoplasms on fine‐needle aspiration. It can improve the ROM estimation and thus help to assign cases of formerly unknown malignant potential to clearly benign or malignant categories.

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Section: Discussionmentioning

confidence: 99%

Molecular analysis using SalvGlandDx improves risk of malignancy estimation and diagnosis of salivary gland cytopathology: An exploratory multicenter study

Freiberger,

Ikenberg,

van Egmond

et al. 2024

Cancer Cytopathology

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“…In contrast to gene fusions, oncogene mutations have been of limited role in benign salivary gland tumors [32]. However, oncogene mutations have emerged recently as potential drivers in several benign salivary gland entities including BRAFV600E mutations in sialdenoma papilliferum [33], AKT1 mutations in intraductal papilloma/ papillary mucinous neoplasms [33,34], PIK3CA mutations in sclerosing polycystic adenoma [35][36][37], IDH2 mutations in striated duct adenoma [38], and HRAS/CTNNB1 mutations in a subset of intercalated duct hyperplasia/adenoma [39]. We herein add a subset of de novo proliferating Warthin tumors to the list of benign salivary gland tumors harboring oncogene (KRAS) mutations.…”

Section: Discussionmentioning

confidence: 99%

KRAS codon 12 mutations characterize a subset of de novo proliferating “metaplastic” Warthin tumors

et al. 2023

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Warthin tumor (WT; synonym: cystadenolymphoma) represents one of the most frequent salivary gland tumors with a frequency equaling or even outnumbering that of pleomorphic adenomas in some series. Histologically, the tumor displays tall columnar oncocytic cells, arranged into two cell-thick layers lining variably cystic glands within an organoid lymphoid stroma. Tumors with exuberant squamous metaplasia in response to FNA-induced or other types of tissue injury/infarction have been referred to as “metaplastic WTs.” However, the same terminology was used for tumors with variable mucinous cell and solid or stratified epidermoid proliferations (occasionally mimicking mucoepidermoid carcinoma), although the “metaplasia concept” has never been proven for the latter. We herein investigated 22 WTs showing prominent mucoepidermoid-like or solid oncocytoma-like proliferations without prior FNA or histological evidence of infarction/ trauma using the TruSight Tumor 15 gene panel and KRAS pyrosequencing. As a control, we tested 11 conventional WTs. No statistically significant differences were observed between the two subcohorts regarding patient’s age and tumor size. Six of 22 (27%) proliferating/ metaplastic WTs revealed oncogenic KRAS mutations clustering at codon 12 (exon 2), while all conventional tumors lacked these mutations. Our findings are in line with a neoplastic nature of the epidermoid/ mucoepidermoid proliferations in non-injured “metaplastic” Warthin tumors. We propose the descriptive term “de novo proliferating Warthin tumor” for this variant to distinguish it from infarcted/inflamed genuine metaplastic Warthin tumor.

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Neues zu Tumoren der Speicheldrüsen

Ihrler

Jurmeister

Haas³

et al. 2023

Pathologie

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A Subset of Salivary Intercalated Duct Lesions Harbors Recurrent CTNNB1 and HRAS Mutations: A Molecular Link to Basal Cell Adenoma and Epithelial-Myoepithelial Carcinoma?

Cited by 5 publications

References 34 publications

Molecular analysis using SalvGlandDx improves risk of malignancy estimation and diagnosis of salivary gland cytopathology: An exploratory multicenter study

Molecular analysis using SalvGlandDx improves risk of malignancy estimation and diagnosis of salivary gland cytopathology: An exploratory multicenter study

KRAS codon 12 mutations characterize a subset of de novo proliferating “metaplastic” Warthin tumors

Neues zu Tumoren der Speicheldrüsen

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