TUMOR SUPPRESSOR GENE TP53 MUTATIONS IN ATYPICAL VASCULAR LESIONS OF THE BREAST SKIN FOLLOWING RADIOTHERAPY

Autor: Santi, Raffaella, Cetica, Valentina, Franchi, Alessandro, Pepi, Monica, Cesinaro, Anna Maria, Miracco, Clelia, Paglierani, Milena, De Giorgi, Vincenzo, Delfino, Chiara, Difonzo, Elisa Margherita, Pimpinelli, Nicola, Bianchi, Simonetta, Sardi, Iacopo, Santucci, Marco, Massi, Daniela
Přispěvatelé: Division of Pathological Anatomy, Department of Critical Care Medicine and Surgery, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Onco-Hematology Unit, Department of Pediatrics, Anatomic Pathology, Università degli Studi di Modena e Reggio Emilia (UNIMORE), Anatomic Pathology Section, Department of Human Pathology and Oncology, Department of Dermatological Sciences
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Zdroj: Histopathology
Histopathology, Wiley, 2011, 58 (3), pp.455. ⟨10.1111/j.1365-2559.2011.03770.x⟩
ISSN: 0309-0167
1365-2559
DOI: 10.1111/j.1365-2559.2011.03770.x⟩
Popis: International audience; Atypical vascular lesions (AVL) occurring at the site of radiotherapy represent an uncommon but well-documented complication in the setting of breast-conserving therapy for breast carcinoma. Although the biological behavior of AVL has been regarded to be benign, it has been suggested that AVL may represent a precursor of angiosarcoma. A better understanding of the biology of AVL is essential in order to assess appropriate patient management. The purpose of the present study was to investigate alterations of tumor suppressor gene TP53 in a series of radiation-induced AVL and angiosarcomas (AS). Direct sequencing analysis of TP53 gene showed the presence of at least one variation in 10 of 12 (83.3%) AVL and in 7 of 8 (87.5%) AS. The most common alteration in both categories was the P72R polymorphism in exon 4. One angiosarcoma sample carried a pathogenetically relevant disruptive mutation c.592delG, a frameshift deletion in exon 6, causing a premature stop codon. The presence of TP53 alterations suggests that its mutational inactivation may be implicated in the pathogenesis of radiation-associated vascular proliferations. The common mutational pathway suggested by our data supports the hypothesis that AVL and AS are biologically related entities, most likely representing the edges of a morphological continuum.
Databáze: OpenAIRE
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