Abstract
Purpose :
Malignant tumors of the lacrimal sac are rare and predominantly comprised of squamous cell carcinomas (SCC). The association of high-risk human papilloma virus (HR-HPV) with SCC of the oropharynx has been well established. The presence of HR-HPV in other head and neck sites, including the sinonasal cavity, has also been described. We sought to examine the prevalence of HR-HPV in a series of primary lacrimal sac SCC (LSSCC) diagnosed in a single large academic institution using immunohistochemistry (IHC) for p16 and RNA in situ hybridization (ISH) for transcriptionally active HR-HPV.
Methods :
The pathology database of the Florida Lions Eye Bank Ocular Pathology Laboratory was searched for primary LSSCC. Cases with confirmed SCC arising from the lacrimal sac, with sufficient material to test for transcriptionally active HR-HPV using p16 IHC and HR-HPV RNA-ISH, were selected. Positive p16 cases contained >70% tumor cells with strong diffuse nuclear and cytoplasmic “block” staining. Positive RNA-ISH yielded punctate “dot-like” brown signals localized to the tumor cell nuclei and/or cytoplasm. Clinical information was obtained from medical records.
Results :
The study cohort consisted of eleven patients with primary LSSCC, 7 men and 4 women, with a mean age of 62.5. All cases demonstrated non-keratinizing papillary morphology. Nine of the 11 cases (82%) were positive for both p16 IHC and HR-HPV by RNA ISH (Figure 1). Data for race, clinical course, and survival were not available for one patient with HPV-positive LSSCC. Patients with HPV-positive LSSCC were predominantly white (89%), with a male-to-female ratio of 2:1, and were all alive post-treatment (100%) with follow-up ranging from 1 to 166 months. The most common symptoms on presentation were tearing (56%), erythema (44%), and itching (44%). Visual changes were an uncommon symptom (11%). Most patients in the cohort were treated with surgery and variable combinations of radiation and chemotherapy. Clinicopathologic findings for HPV-positive and HPV-negative primary LSSCC are presented in Table 1.
Conclusions :
Primary SCC arising from the lacrimal commonly are non-keratinizing and papillary. The prevalence of HR-HPV in LSSCC is high (82%) and suggests a role in the development of these tumors. Positive p16 IHC in primary LSSCC correlates with transcriptionally active HR-HPV by RNA ISH. P16 is a good surrogate marker for HPV-related LSSCC.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.