Salivary Duct Carcinoma Arising in the Submandibular Gland in a Patient with Neurofibromatosis Type 1.
Shuto Hayashi, Nobuyuki Bandoh, Misaki Hayashi et al.
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Case in brief
A 71-year-old man with neurofibromatosis type 1 (NF1) presented with a painful left submandibular mass. Imaging showed an irregular 2.0-cm tumor in the gland and an adjacent 1.0-cm metastatic lymph node; PET/CT showed increased uptake, and fine-needle aspiration suggested salivary duct carcinoma (SDC). Resection with left neck dissection confirmed submandibular-gland SDC, staged pT3N1M0, stage III. Sequencing identified a germline frameshift NF1 mutation and a somatic frameshift TP53 mutation. He received postoperative radiotherapy (66 Gy), with no recurrence or metastasis reported at 10 months.
What made this case unusual
The report describes SDC arising in the submandibular gland in a patient with NF1, with sequencing identifying germline NF1 and somatic TP53 frameshift mutations.
Diagnostic / clinical pearl
A painful submandibular mass with an adjacent suspicious lymph node may represent SDC; imaging and aspiration can raise suspicion, but histologic examination established the diagnosis in this case.
Why it matters
The reported NF1 and TP53 mutations provide molecular observations that may help inform understanding of SDC oncogenesis in patients with NF1.