التفاصيل البيبلوغرافية
| العنوان: |
Sialadenoma papilliferum-like intraductal papillary tumor with unveiling BRAF V600E and PIK3CA H1047R mutations: Case report with molecular analysis and literature review. |
| المؤلفون: |
Alsugair, Ziyad, Neuhart, Anne, Benzerdjeb, Nazim, Champagnac, Anne, Pissaloux, Daniel, Baltres, Aline |
| المصدر: |
International Journal of Surgery Case Reports; May2024, Vol. 118, pN.PAG-N.PAG, 1p |
| مستخلص: |
Sialadenoma papilliferum (SP), a rare minor salivary gland tumor, shares morphological and genetic similarities with syringocystadenoma papilliferum. Recent studies have identified BRAF V600E or HRAS mutations in SP, suggesting its neoplastic nature. Despite being uncommon, SP poses diagnostic challenges due to its resemblance to other lesions like squamous papilloma. The emergence of sialadenoma papilliferum-like intraductal papillary tumor (SP-IPT) further complicates its classification, emphasizing the need for thorough investigation. A 50-year-old male presented with a left palatal lesion histologically diagnosed as SP-IPT. Surgical resection revealed characteristic features, including papillary projections into cystically dilated ductal spaces. Immunohistochemistry confirmed positivity for pan-keratin AE1/AE3, cytokeratin 7, SOX10, and BRAF V600E. Whole-exome sequencing identified BRAF V600E and PIK3CA H1047R mutations. No recurrence was observed three months post-excision. SP-IPT's diagnostic complexity stems from its resemblance to SP without an exophytic papillary component. However, shared BRAF mutations suggest a close relationship between the two entities. Similarities with skin adnexal tumors underscore the importance of molecular markers in tumor classification. The identification of PIK3CA mutation in SP-IPT adds to its molecular diversity, warranting further investigation into its clinical significance. This study presents a case of SP-IPT with unique histological and molecular features, highlighting its diagnostic and therapeutic challenges. The co-occurrence of BRAF V600E and PIK3CA H1047R mutations suggests a distinct molecular profile in SP-IPT, necessitating further research to elucidate its biological behavior and clinical implications. • Sialadenoma papilliferum (SP) is a rare tumor accounting for only 1.1% of minor salivary gland tumors, characterized by distinct genetic alterations and a biphasic growth pattern. • Shared mutations such as BRAF V600E or HRAS between SP and syringocystadenoma papilliferum imply a close relationship despite morphological differences. • SP presents with both exophytic papillary and endophytic adenomatous components, often resembling other benign lesions clinically. • A case of SP-IPT with a dual mutation of BRAF V600E and PIK3CA H1047R introducing a novel molecular insight into this rare tumor entity. [ABSTRACT FROM AUTHOR] |
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