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Accès ouvert déclaré 2024 article

Beneath HMGA2 alterations in pleomorphic adenomas: Pathological, immunohistochemical, and molecular insights

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19Institutions déclarées
1Pays d’affiliation déclarés

Résumé fourni par la source

AIMS: Most salivary gland neoplasms are distinguished by specific recurrent gene fusions. Recently, a subset of pleomorphic adenomas (PAs) originated from the parotid gland harboring the HMGA2:WIF1 fusion was described with a canalicular adenoma-like morphology and a greater propensity for recurrence and carcinomatous transformation. METHODS AND RESULTS: This study delineates the clinicopathological attributes of 54 cases of PAs exhibiting HMGA2 alterations, predominantly characterized by the HMGA2:WIF1 fusion, alongside a comparative analysis of their morphological and immunohistochemical profiles. The cohort consisted of 23 females and 31 males (n = 54), mean age was 56.7 (25-84), tumors predominantly originated from the parotid gland (94.4%, 51/54), with 3 cases from seromucous glands (5.6%). Mean tumor size was 2.6 cm (0.8-7.5). No clinical difference (demographic, follow-up) was observed among histological subsets (conventional, hybrid, and pure). Complete excision was performed in all cases, with follow-up data available for 41% (22/54) of patients, showing 13.6% of recurrence (3/22) between 5 and 8 months. Various histological growth patterns were identified, with the pure hypercellular monomorphic subset being the most prevalent. The HMGA2:WIF1 gene was identified in all subsets without any particular predominance. Novel gene partners of HMGA2 were identified, comprising NRXN1, INPP4B, MSRB3, PHLDA1, and FLJ41278. CONCLUSIONS: The present study reports that the HMGA2:WIF1 gene fusion was present in all subsets of PAs without significant predominance. However, further investigations are warranted to explore the relationship between histological subsets of PAs and the molecular alterations underlying them.

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Contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
Beneath HMGA2 alterations in pleomorphic adenomas: Pathological, immunohistochemical, and molecular insights
Date Crossref
01/10/2024
Éditeur
Elsevier BV
Type
journal-article

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Institutions déclarées

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Sujets associés

Salivary Gland Tumors Diagnosis and TreatmentEar and Head TumorsSalivary Gland Disorders and Functions

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