Grachev Nikolay, Rabaev Gavriil, Avdalyan Ashot, Znamenskiy Igor, Mosin Dmitry, Ustyuzhanin Dmitry, Rabaev Gennady, Lužbeták Martin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russian Federation, Moscow, Russia.
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.
Case Rep Oncol. 2024 Jan 29;17(1):142-149. doi: 10.1159/000536061. eCollection 2024 Jan-Dec.
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.
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.
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.
泪囊鳞状细胞癌(SCC)是一种罕见肿瘤。文献中仅报道了241例泪囊SCC病例。然而,这种肿瘤的详细分子特征尚不清楚。
一名57岁的白种男性,有6个月的溢泪病史。多模式检查显示为单侧泪囊SCC T4aN0M0。患者接受了一期手术,随后进行放化疗。治疗结束18个月后患者仍存活,无局部或远处复发迹象。复杂的分子分析显示存在FGFR p.G388R变异、HER2扩增和进展表型。
在此,我们描述了一例男性泪囊SCC临床病例,并对疾病史、治疗及肿瘤的分子遗传模式进行了详细描述。这是HER2阳性泪囊SCC的首例报告。