Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations

Author:

Cornejo Kristine M.1,Hutchinson Lloyd2,O’Donnell Patrick2,Meng Xiuling2,Tomaszewicz Keith2,Shalin Sara C.3,Cassarino David S.4,Chan May P.5,Quinn Timothy R.6,Googe Paul B.7,Nazarian Rosalynn M.1

Affiliation:

1. From the Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts (Cornejo, Nazarian)

2. Department of Pathology, University of Massachusetts Memorial Medical Center, Worcester, Massachusetts (Hutchinson, O’Donnell, Meng, Tomaszewicz)

3. Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas (Shalin)

4. Southern California Permanente Medical Group, Sunset Medical Center, Department of Pathology, Los Angeles, California (Cassarino)

5. Department of Pathology, University of Michigan Health System, Ann Arbor, Michigan (Chan)

6. Massachusetts General Physicians Organization Dermatopathology Associates, Newton, Massachusetts (Quinn)

7. the Department of Dermatology, University of North Carolina School of Medicine, Chapel Hill, North Carolina (Googe)

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.

Publisher

Archives of Pathology and Laboratory Medicine

Subject

Medical Laboratory Technology,General Medicine,Pathology and Forensic Medicine

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