Unusual presentation of HPV-positive squamous cell carcinoma of the nasolacrimal duct as carcinoma of unknown primary

Tara E Mokhtari; Chloe Warinner; Heather Edwards; Annie W Chan; Don Annino; Jonathan D Schoenfeld; Rosh K V Sethi; Eleni M Rettig

doi:10.1016/j.amjoto.2022.103457

Unusual presentation of HPV-positive squamous cell carcinoma of the nasolacrimal duct as carcinoma of unknown primary

Am J Otolaryngol. 2022 May-Jun;43(3):103457. doi: 10.1016/j.amjoto.2022.103457. Epub 2022 Apr 6.

Authors

Tara E Mokhtari¹, Chloe Warinner¹, Heather Edwards², Annie W Chan³, Don Annino⁴, Jonathan D Schoenfeld⁵, Rosh K V Sethi⁴, Eleni M Rettig⁶

Affiliations

¹ Division of Otolaryngology-Head and Neck Surgery, Brigham and Women's Hospital, Boston, MA, USA; Department of Otolaryngology, Harvard Medical School, Boston, MA, USA.
² Department of Otolaryngology, Boston Medical Center, Boston, MA, USA; Boston University School of Medicine, Boston, MA, USA.
³ Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA, USA.
⁴ Division of Otolaryngology-Head and Neck Surgery, Brigham and Women's Hospital, Boston, MA, USA; Department of Otolaryngology, Harvard Medical School, Boston, MA, USA; Center for Head and Neck Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
⁵ Center for Head and Neck Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Radiation Oncology, Brigham and Women's Hospital, Boston, MA, USA.
⁶ Division of Otolaryngology-Head and Neck Surgery, Brigham and Women's Hospital, Boston, MA, USA; Department of Otolaryngology, Harvard Medical School, Boston, MA, USA; Center for Head and Neck Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. Electronic address: emrettig@bwh.harvard.edu.

PMID: 35453094
DOI: 10.1016/j.amjoto.2022.103457

Abstract

Most human papillomavirus (HPV)-positive carcinomas of unknown primary (CUP) in the cervical lymph nodes are ultimately found to arise from the oropharynx, which has by far the highest prevalence of HPV-positivity among head and neck tumors. However, HPV is also detected in a subset of tumors from other sites. In this case report, we describe the first reported instance of a lacrimal sac carcinoma presenting as an HPV-positive CUP. A 64-year-old male presented with isolated right-sided neck swelling, found on core biopsy to be HPV-positive squamous cell carcinoma (SCC). Initial diagnostic workup did not reveal a primary site, and he was treated for T0N1M0 oropharyngeal SCC with chemoradiation. Shortly afterwards he developed epiphora and was found to have an FDG-avid lesion along his inferior right orbit. Biopsy revealed HPV-positive SCC, presumed to be the true primary site of his previously diagnosed CUP. He was treated with surgical resection, proton-beam radiation, and carboplatin-paclitaxel. He had an excellent outcome with no evidence of disease 18 months following treatment completion. This case underscores the importance of continued vigilance and thorough investigation for a primary tumor site even when cervical nodal metastases are HPV-positive. While the vast majority of HPV-positive head and neck tumors arise in the oropharynx, other anatomical sites may also harbor HPV-positive malignancies.

Keywords: Carcinoma of unknown primary; HPV; Head and neck cancer; Human papillomavirus; Lacrimal sac carcinoma; Nasolacrimal duct carcinoma; Squamous cell carcinoma.

Publication types

Case Reports

MeSH terms

Carcinoma, Squamous Cell*
Head and Neck Neoplasms*
Humans
Male
Middle Aged
Nasolacrimal Duct* / diagnostic imaging
Neoplasms, Unknown Primary* / therapy
Papillomaviridae
Papillomavirus Infections* / diagnosis