HER2-Positive Lacrimal Sac Squamous Cell Carcinoma in a 57-Year-Old Man

Nikolay Grachev; Gavriil Rabaev; Ashot Avdalyan; Igor Znamenskiy; Dmitry Mosin; Dmitry Ustyuzhanin; Gennady Rabaev; Martin Lužbeták

doi:10.1159/000536061

HER2-Positive Lacrimal Sac Squamous Cell Carcinoma in a 57-Year-Old Man

Case Rep Oncol. 2024 Jan 29;17(1):142-149. doi: 10.1159/000536061. eCollection 2024 Jan-Dec.

Authors

Nikolay Grachev¹, Gavriil Rabaev², Ashot Avdalyan^{3

4}, Igor Znamenskiy⁵, Dmitry Mosin⁶, Dmitry Ustyuzhanin⁷, Gennady Rabaev⁸, Martin Lužbeták⁹

Affiliations

¹ Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russian Federation, Moscow, Russia.
² Department of Pediatric Oncology and Surgery, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russian Federation, Moscow, Russia.
³ Department of Pathology of the Moscow Multidisciplinary Clinical Center «Kommunarka» of Moscow Healthcare Department, Moscow, Russia.
⁴ A.I. Evdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of Russia, Moscow, Russia.
⁵ Department of Radionuclide Diagnostic Methods of the Federal State Budgetary Research Institution «Russian Research Center of Surgery Named after Academician B.V. Petrovsky», Department of Radiation Diagnostics and Therapy of the Pirogov Russian National Research Medical University of the Ministry of Health of Russia, Moscow, Russia.
⁶ Federal State Budgetary Research Institution «Russian Research Center of Surgery Named after Academician B.V. Petrovsky», Department of the Rentgenoradiologi, Pirogov Russian National Research Medical University, Moscow, Russia.
⁷ Department of Tomography, Evgeny Chazov National Medical Research Center of Cardiology, Moscow, Russia.
⁸ Department of Oncology, LLC Onco Genotest, Moscow, Russia.
⁹ Department of Preventive Medicine (Dresden International University, Dresden), NextGen Oncology Group, Düsseldorf, Germany.

Abstract

Introduction: Lacrimal sac squamous cell carcinoma (SCC) is a rare tumor. Only 241 cases of lacrimal sac SCC have been reported in the literature. However, the detailed molecular profile of this tumor is unknown.

Case presentation: Fifty-seven-year-old Caucasian male presented with a 6-month history of epiphora. Multimodal examination revealed a unilateral lacrimal sac SCC T4aN0M0. The patient underwent primary surgery with subsequent chemoradiotherapy. The patient was alive 18 months after the end of the treatment, with no signs of local or distant relapse. Complex molecular profiling revealed the FGFR p.G388R variant, HER2 amplification, and progression phenotype.

Conclusion: Here, we describe a clinical case of a male patient with lacrimal sac SCC with a careful description of the disease history, treatment, and molecular-genetic patterns of the tumor. This is the first report of HER2-positive lacrimal sac SCC.

Keywords: Epithelial lacrimal sac tumors; HER2 amplification; Molecular profile; Squamous cell carcinoma.

Publication types

Case Reports

Grants and funding

All authors received no financial support for the research, authorship, and publication of this article.