Thyroid-like low-grade nasopharyngeal papillary adenocarcinoma (TL-LGNPPA) is an extremely rare neoplasm of the nasopharynx. Accordingly, its clinical and pathological characteristics are not well-known. We report a case of TL-LGNPPA and review the relevant literature on TL-LGNPPA. A 38-year-old Japanese woman presented with a history of nasal obstruction that had persisted for 1 month after symptoms of a common cold (e.g., low-grade fever, sore throat, and fatigue). A pedunculated tumor of ∼20 mm in diameter was found on the posterior edge of the nasal septum. The tumor was endoscopically resected. Based on careful histopathological and immunohistochemical examinations, it was diagnosed as TL-LGNPPA. At 5 years after surgery, the patient remained disease-free. TL-LGNPPA has a very good prognosis, and complete resection with a sufficient safety margin is recommended as the first-line treatment. The morphological characteristics and immunohistochemical findings, especially TTF-1 positivity and thyroglobulin negativity, are important for the diagnosis.

CD271 (also referred to as nerve growth factor receptor or p75NTR) is expressed on cancer stem cells in hypopharyngeal cancer (HPC) and regulates cell proliferation. Because elevated expression of CD271 increases cancer malignancy and correlates with poor prognosis, CD271 could be a promising therapeutic target; however, little is known about the induction of CD271 expression and especially its promoter activity. In this study, we screened transcription factors and found that RELA (p65), a subunit of nuclear factor kappaB (NF-κB), is critical for CD271 transcription in cancer cells. Specifically, we found that RELA promoted CD271 transcription in squamous cell carcinoma cell lines but not in normal epithelium and neuroblastoma cell lines. Within the CD271 promoter sequence, region + 957 to + 1138 was important for RELA binding, and cells harboring deletions in proximity to the + 1045 region decreased CD271 expression and sphere-formation activity. Additionally, we found that clinical tissue samples showing elevated CD271 expression were enriched in RELA-binding sites and that HPC tissues showed elevated levels of both CD271 and phosphorylated RELA. These data suggested that RELA increases CD271 expression and that inhibition of RELA binding to the CD271 promoter could be an effective therapeutic target.

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Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57-kb deletion involving the transcription start site and non-coding exon 1 of PRKAR1A. The proband is a 28-year-old male with bilateral large-cell calcified Sertoli cell testicular tumors and pituitary adenoma. Comprehensive genomic profiling for cancer mutations using Foundation One CDx failed to detect any mutations in PRKAR1A in DNA from the testicular tumor. Single-nucleotide polymorphism array analysis of the proband's genomic DNA revealed a large deletion in the 5′ region of PRKAR1A.