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

Autor: Alsugair Z; Department of Pathology, Institut de Pathologie Multisite, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France., Lépine C; Department of Pathology, CHU Nantes, Nantes, France., Descotes F; Biochemistry and Molecular Biology Department, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France., Lanic MD; Pathology Department, Centre Henri Becquerel, INSERM U1245, Université Rouen Normandie, Rouen, France., Pissaloux D; The Unit of Molecular Pathology, INSERM 1052, CNRS 5286 of Cancer Research Center of Lyon, and Team Genetics, Epigenetics and Biology of Sarcomas, Université Claude Bernard Lyon 1, Lyon, France; Biopathology department, Centre Leon Berard, Lyon, France., Tirode F; The Unit of Molecular Pathology, INSERM 1052, CNRS 5286 of Cancer Research Center of Lyon, and Team Genetics, Epigenetics and Biology of Sarcomas, Université Claude Bernard Lyon 1, Lyon, France., Lopez J; Biochemistry and Molecular Biology Department, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France; University of Lyon, Université Lyon 1, Lyon, France., Céruse P; University of Lyon, Université Lyon 1, Lyon, France; Department of Oto-Rhino-Laryngology and Head and Neck Surgery, Hospices Civils de Lyon, Hôpital de La Croix Rousse, Lyon, France., Philouze P; University of Lyon, Université Lyon 1, Lyon, France; Department of Oto-Rhino-Laryngology and Head and Neck Surgery, Hospices Civils de Lyon, Hôpital de La Croix Rousse, Lyon, France., Fieux M; University of Lyon, Université Lyon 1, Lyon, France; Department of Oto-Rhino-Laryngology and Head and Neck Surgery, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France., Wassef M; Department of Pathology, Hôpital Lariboisière, AP-HP, Paris Diderot University, Paris, France., Baglin AC; Department of Pathology, Hôpital Lariboisière, AP-HP, Paris Diderot University, Paris, France., Mihaela O; Pathology Department, CHU de Strasbourg, Strasbourg, France., Castain C; Pathology Department, CHU de Bordeaux, Bordeaux, France., Sudaka A; Histopathology Department, Centre Antoine Lacassagne, Nice, France., Uro-Coste E; Department of Pathology, Institut Universitaire du Cancer-Oncopole, Toulouse, France., Champagnac A; Biopathology department, Centre Leon Berard, Lyon, France., Costes-Martineau V; Department of Pathology, CHU de Montpellier, Montpellier, France., Laé M; Pathology Department, Centre Henri Becquerel, INSERM U1245, Université Rouen Normandie, Rouen, France., Benzerdjeb N; Department of Pathology, Institut de Pathologie Multisite, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France; University of Lyon, Université Lyon 1, Lyon, France; EMR3738, CICLY, Pierre-Bénite, France. Electronic address: nazim.benzerdjeb@chu-lyon.fr.
Jazyk: angličtina
Zdroj: Human pathology [Hum Pathol] 2024 Oct; Vol. 152, pp. 105633. Date of Electronic Publication: 2024 Jul 30.
DOI: 10.1016/j.humpath.2024.105633
Abstrakt: 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.
Competing Interests: Declaration of competing interest The authors have declared that no competing interests exist.
(Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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