The evolving role of molecular pathology in the diagnosis of salivary gland tumours with potential pitfalls

Kaur, Kanwalpreet; Mehta, Shailee; Vanik, Sangita; Trivedi, Priti; Banerjee, Nirmalya; D’Cruz, Anil; Datta, Sourav; Karanjai, Subhadeep

doi:10.1007/s00405-022-07326-6

Cited by 13 publications

(14 citation statements)

References 47 publications

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“…2 PLAG1 and HMGA2 rearrangements can now be detected routinely using immunohistochemistry. 2 These two immunomarkers can detect most PAs, including those with diagnostically challenging morphology. 2,23,[25][26][27] If both immunomarkers are negative, additional molecular testing may be warranted in these cases to ensure accurate diagnosis to ensure appropriate clinical treatment.…”

Section: Pleomorphic Adenomamentioning

confidence: 99%

“…On small biopsy or FNA specimens, it can be difficult to render a definitive diagnose as its morphology overlaps with other neoplasms with basaloid features such as basal cell adenoma or PA. AdCC can have multiple architectural patterns and often shows cribriform growth of basaloid cells. AdCCs can present as a solid or cystic mass 2,21. Ancillary testing can play a key role in establishing the diagnosis of AdCC.…”

Section: Nonmucinous Cysts With Epithelial Componentmentioning

confidence: 99%

“…HMGA2 encodes nonhistone protein components of chromatin and is located on chromosome 12q14. PAs have been shown to harbor HMAG2 aberrations in 10% to 20% of cases 2. PLAG1 and HMGA2 rearrangements can now be detected routinely using immunohistochemistry 2.…”

Section: Salivary Gland Cysts Containing Mucinmentioning

confidence: 99%

“…Subsequently, these studies have resulted in the generation of ancillary studies which facilitate the accurate diagnosis of salivary gland neoplasms in clinical practice, in particular in small biopsy and fine-needle aspiration (FNA) specimens. 1,2 Several salivary gland malignancies have been found to harbor characteristic gene rearrangements. These genetic alterations have become diagnostic of specific entities, and antibodies have subsequently been developed as surrogate markers to detect specific genetic alterations.…”

mentioning

confidence: 99%

“…Recently, molecular studies have led to a better understanding of the pathogenesis and classification of many salivary gland tumors. Subsequently, these studies have resulted in the generation of ancillary studies which facilitate the accurate diagnosis of salivary gland neoplasms in clinical practice, in particular in small biopsy and fine-needle aspiration (FNA) specimens 1,2. Several salivary gland malignancies have been found to harbor characteristic gene rearrangements.…”

mentioning

confidence: 99%

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Cystic Salivary Gland Neoplasms: Diagnostic Approach With a Focus on Ancillary Studies

Ribeiro

Maleki

2022

Advances in Anatomic Pathology

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Cystic salivary gland cytology can be challenging due to the fact that a cystic mass can be the clinical presentation of both non-neoplastic and neoplastic conditions. Neoplastic lesions consist of both benign and malignant neoplasms. The cytomorphologic features of these entities can overlap and the cystic background may additionally contribute to the complexity of these lesions and their interpretation. Ancillary studies have been reported in several studies to be beneficial in further characterization of the cellular components and subsequent diagnosis of the cystic lesions of the salivary gland. Fluorescence in situ hybridization, real-time polymerase chain reaction, and next-generation sequencing are now being utilized to detect molecular alterations in salivary gland neoplasms. MALM2 rearrangement is the most common gene fusion in mucoepidermoid carcinoma. PLAG1 rearrangement is present in more than half of pleomorphic adenomas. AKT1:E17K mutation is the key diagnostic feature of the mucinous adenocarcinoma. NR4A3 overexpression is highly sensitive and specific for the diagnosis of acinic cell carcinoma. MYB fusion is noted in adenoid cystic carcinoma. ETV6:NTRK3 fusion is helpful in diagnosis of secretory carcinoma. p16 and human papillomavirus (HPV) studies differentiate HPV-related squamous cell carcinoma from non-HPV-related neoplasms with overlapping features. NCOA4:RET fusion protein is the main fusion in intraductal carcinoma.

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