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A novel low-grade nasopharyngeal adenocarcinoma characterized by a GOLGB1-BRAF fusion gene.

ABSTRACT: Nasopharyngeal adenocarcinoma is a rare malignancy that is classified into conventional/surface- and salivary-types. Herein we report the case of a 52-year-old male who presented with a right nasopharyngeal mass and right-sided hearing loss. Diagnostic imaging revealed a circumscribed 1.7 cm mass centred in the right antero-lateral aspect of the nasopharynx. A biopsy showed a gland-forming neoplasm that was in continuity with the surface epithelium. The tumor exhibited a nested to micro-papillary architecture, with mild cytologic atypia. Immunohistochemistry demonstrated diffuse staining for CK7, SOX10, and p16; the abluminal layer was highlighted by CK5 and p63, while the luminal cells expressed CD117. The tumor was not amenable to subclassification and was diagnosed as a low-grade nasopharyngeal adenocarcinoma, not otherwise specified (NOS). Subsequent RNA sequencing was performed which identified a novel GOLGB1-BRAF fusion product. Based on its unique morphology and molecular findings, this is presumed to represent a novel subtype of nasopharyngeal adenocarcinoma. In addition to being of diagnostic relevance, this fusion may ultimately represent a potential therapeutic target.

SUBMITTER: Bubola J

PROVIDER: S-EPMC8423499 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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A novel low-grade nasopharyngeal adenocarcinoma characterized by a GOLGB1-BRAF fusion gene.

Bubola Justin J Antonescu Cristina R CR Weinreb Ilan I Swanson David D De Almeida John R JR MacMillan Christina M CM Dickson Brendan C BC

Genes, chromosomes & cancer 20200929 1

Nasopharyngeal adenocarcinoma is a rare malignancy that is classified into conventional/surface- and salivary-types. Herein we report the case of a 52-year-old male who presented with a right nasopharyngeal mass and right-sided hearing loss. Diagnostic imaging revealed a circumscribed 1.7 cm mass centred in the right antero-lateral aspect of the nasopharynx. A biopsy showed a gland-forming neoplasm that was in continuity with the surface epithelium. The tumor exhibited a nested to micro-papillar ...[more]

PMID: 32951290

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Project description:BackgroundAmong the malignant tumors that occur in the nasopharynx, nasopharyngeal carcinoma is the most common. Nasopharyngeal carcinoma (NPC) is commonly diagnosed in Southeastern Asia, particularly in southern China. It originates from the epithelial lining of the nasopharynx and has a variety of pathological subtypes. The vast majority of NPC cases are keratinizing or nonkeratinizing squamous cell carcinoma. Low-grade nasopharyngeal papillary adenocarcinoma (LGNPPA) is an extremely rare malignant tumor. Most reports regarding this disease mainly focus on clinical diagnosis and pathology; however, reports regarding therapy and follow-up are relatively limited. The case in the study presents a female patient with LGNPPA. The patient underwent endoscopic resection and adjuvant radiotherapy. Following-up 6 years, the patient was free of local recurrence and distant metastasis. Because of the very low incidence, there are no guidelines or protocols developed for proper, standardized therapy, we aim to provide useful recommendations regarding optimal treatment strategies by exploring the therapeutic expectancies of the rare disease.Case descriptionA 45-year-old female of Han ethnicity visited a local hospital for over 2 years of recurrent nasal congestion. The patient had no previous medical history, had a history of smoking (6 years, 20 cigarettes per day) and drank occasionally. but had no family history of cancer. Epstein-Barr virus (EBV) DNA was <500×102 IU/mL. Based on findings from computed tomography (CT) scans of the nasal cavity and paranasal sinuses, nasal endoscopy, and postoperative pathology, the diagnosis was low-grade papillary adenocarcinoma located at the upper nasopharynx (T1N0M0, stage I). This patient underwent endoscopic resection. After the endoscopic resection, she received intensity-modulated radiotherapy. After radiotherapy, there was no residual by nasopharyngo-fiberoscope. And she was free of local recurrence and distant metastasis at 6 years of follow-up.ConclusionsAlthough primary nasopharyngeal adenocarcinomas (NPACs) are very rare, they also should be pay attention to. As far as treatment policy, no standard treatment exists for the tumors. So through this case report, we want to provide a possible useful recommendations regarding optimal treatment strategies by exploring the therapeutic expectations of this rare disease.

Dataset Information

A novel low-grade nasopharyngeal adenocarcinoma characterized by a GOLGB1-BRAF fusion gene.

Publications

A novel low-grade nasopharyngeal adenocarcinoma characterized by a GOLGB1-BRAF fusion gene.

Similar Datasets

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