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Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations.
- Source :
-
Archives of Pathology & Laboratory Medicine . Feb2024, Vol. 148 Issue 2, p215-222. 8p. - Publication Year :
- 2024
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *ADENOCARCINOMA
*GENETIC mutation
*MOLECULAR diagnosis
*SEQUENCE analysis
*ONCOGENES
*EXTREMITIES (Anatomy)
*SIGNAL peptides
*HEAD & neck cancer
*CANCER patients
*GENE expression profiling
*SYMPTOMS
*CASE studies
*DESCRIPTIVE statistics
*SWEAT glands
*LONGITUDINAL method
*CARCINOMA in situ
*SQUAMOUS cell carcinoma
Subjects
Details
- Language :
- English
- ISSN :
- 00039985
- Volume :
- 148
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Archives of Pathology & Laboratory Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 175180326
- Full Text :
- https://doi.org/10.5858/arpa.2022-0474-OA