YAP1-MAML2-Rearranged Poroid Squamous Cell Carcinoma (Squamoid Porocarcinoma) Presenting as a Primary Parotid Gland Tumor. 2021

Abbas Agaimy, and Robert Stoehr, and Lars Tögel, and Arndt Hartmann, and Thomas Cramer
Institute of Pathology, University Hospital, Krankenhausstrasse 8-10, 91054, Erlangen, Germany. abbas.agaimy@uk-erlangen.de.

Porocarcinoma (synonym: malignant eccrine poroma) is a rare aggressive carcinoma type with terminal sweat gland duct differentiation. The squamous variant of porocarcinoma is even less frequent and might be indistinguishable from conventional squamous cell carcinoma (SCC). We herein describe the first case of a carcinoma presenting as a primary parotid gland malignancy in a 24-year-old male without any other primary tumor. Total parotidectomy and neck dissection were performed followed by adjuvant chemoradiation. The patient remained alive and well 10 months after diagnosis. Histology showed keratinizing SCC infiltrating extensively the parotid gland with subtle poroid cell features. Oncogenic HPV infection was excluded by DNA-based testing. NGS analysis using the TruSight RNA fusion panel (Illumina) revealed a novel YAP1-MAML2 gene fusion. This gene fusion was reported recently in a subset of cutaneous porocarcinoma and poroma. This case of poroid SCC (or squamoid porocarcinoma) adds to the differential diagnosis of SCC presenting as parotid gland tumor and highlights the value of molecular testing in cases with unusual presentation.

UI MeSH Term Description Entries
D008297 Male Males
D010307 Parotid Neoplasms Tumors or cancer of the PAROTID GLAND. Cancer of Parotid,Parotid Cancer,Cancer of the Parotid,Neoplasms, Parotid,Cancer, Parotid,Cancers, Parotid,Neoplasm, Parotid,Parotid Cancers,Parotid Neoplasm
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077195 Squamous Cell Carcinoma of Head and Neck The most common type of head and neck carcinoma that originates from cells on the surface of the NASAL CAVITY; MOUTH; PARANASAL SINUSES, SALIVARY GLANDS, and LARYNX. Mutations in TNFRSF10B, PTEN, and ING1 genes are associated with this cancer. HNSCC,Head And Neck Squamous Cell Carcinomas,Hypopharyngeal Squamous Cell Carcinoma,Laryngeal Squamous Cell Carcinoma,Oral Cavity Squamous Cell Carcinoma,Oral Squamous Cell Carcinoma,Oral Squamous Cell Carcinomas,Oral Tongue Squamous Cell Carcinoma,Oropharyngeal Squamous Cell Carcinoma,Squamous Cell Carcinoma of Larynx,Squamous Cell Carcinoma of the Larynx,Squamous Cell Carcinoma of the Mouth,Squamous Cell Carcinoma of the Nasal Cavity,Carcinoma, Squamous Cell of Head and Neck,Head and Neck Squamous Cell Carcinoma,Squamous Cell Carcinoma of the Head and Neck,Squamous Cell Carcinoma, Head And Neck
D000091102 YAP-Signaling Proteins Signal transducing adaptor proteins that were initially identified by their association with YES PROTO-ONCOGENE PROTEIN. They are downstream components of the HIPPO-SIGNALING PATHWAY, and act as transcriptional co-activators for TEAD TRANSCRIPTION FACTORS. YAP Intracellular Signaling Proteins,Yes-Associated Proteins,YAP Signaling Proteins,Yes Associated Proteins
D013544 Sweat Gland Neoplasms New abnormal growth of tissue in the SWEAT GLANDS. Neoplasms, Sweat Gland,Neoplasm, Sweat Gland,Sweat Gland Neoplasm
D014157 Transcription Factors Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. Transcription Factor,Factor, Transcription,Factors, Transcription
D015514 Oncogene Proteins, Fusion The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin. Chimeric Oncogene Proteins,Chimeric Proteins, Oncogene,Fusion Proteins, Oncogene,Oncogene Fusion Proteins,Oncogene Proteins, Chimeric,Fusion Oncogene Proteins,Oncogene Chimeric Proteins,Proteins, Chimeric Oncogene,Proteins, Fusion Oncogene,Proteins, Oncogene Chimeric,Proteins, Oncogene Fusion
D015534 Trans-Activators Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins. Nuclear Trans-Acting Factor,Trans-Acting Factors,Trans-Acting Factor,Trans-Activator,Transactivator,Transactivators,Factor, Nuclear Trans-Acting,Factor, Trans-Acting,Factors, Trans-Acting,Nuclear Trans Acting Factor,Trans Acting Factor,Trans Acting Factors,Trans Activator,Trans Activators,Trans-Acting Factor, Nuclear
D048868 Adaptor Proteins, Signal Transducing A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes Signal Transducing Adaptor Proteins

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