Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations

Autor: Kristine M. Cornejo, Lloyd Hutchinson, Patrick O'Donnell, Xiuling Meng, Keith Tomaszewicz, Sara C. Shalin, David S. Cassarino, May P. Chan, Timothy R. Quinn, Paul B. Googe, Rosalynn M. Nazarian
Rok vydání: 2023
Předmět:
Zdroj: Archives of Pathology & Laboratory Medicine.
ISSN: 1543-2165
0003-9985
DOI: 10.5858/arpa.2022-0474-oa
Popis: Context.— Syringocystadenocarcinoma papilliferum (SCACP) is a rare adnexal carcinoma and the malignant counterpart of syringocystadenoma papilliferum (SCAP), which is commonly located on the head and neck and may arise in association with a nevus sebaceus. RAS mutations have been identified in both SCAP and nevus sebaceus. Objective.— To evaluate the clinicopathologic and molecular features of SCACPs, which have not been previously explored. Design.— We obtained 11 SCACPs from 6 institutions and reviewed the clinicopathologic features. We also performed molecular profiling using next-generation sequencing. Results.— The cohort comprised 6 women and 5 men with ages ranging from 29 to 96 years (mean, 73.6 years). The neoplasms occurred on the head and neck (n = 8; 73%) and extremities (n = 3; 27%). Three tumors possibly arose in a nevus sebaceus. A total of 4 cases showed at least carcinoma in situ (adenocarcinoma, n = 3; squamous cell carcinoma [SCC], n = 1), and 7 cases were invasive (SCC, n = 5; mixed adenocarcinoma + SCC, n = 2). A total of 8 of 11 cases (73%) identified hot spot mutations consisting of HRAS (n = 4), KRAS (n = 1), BRAF (n = 1), TP53 (n = 4), ATM (n = 2), FLT3 (n = 1), CDKN2A (n = 1), and PTEN (n = 1). All 4 cases with HRAS mutations occurred on the head and neck, whereas the KRAS mutation occurred on the extremity. Conclusions.— RAS-activating mutations were detected in 50% of the cases, of which most (80%) involved HRAS and occurred on the head and neck, which shows overlapping features with SCAP, supporting that a subset may arise as a result of malignant transformation and likely an early oncogenic event.
Databáze: OpenAIRE
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