1. Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations
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Cornejo, Kristine M., Hutchinson, Lloyd, O'Donnell, Patrick, Meng, Xiuling, Tomaszewicz, Keith, Shalin, Sara C., Cassarino, David S., Chan, May P., Quinn, Timothy R., Googe, Paul B., and Nazarian, Rosalynn M.
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Tumor proteins -- Genetic aspects ,Squamous cell carcinoma -- Genetic aspects ,Health - Abstract
* 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%) had 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. (Arch Pathol Lab Med. 2024;148:215-222; doi: 10.5858/arpa.2022-0474-OA), Syringocystadenocarcinoma papilliferum (SCACP) is an exceedingly rare cutaneous adnexal carcinoma, (1) first described by Dissanayake and Salm (2) in 1980, and is the malignant counterpart of the more commonly identified [...]
- Published
- 2024
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