Hyalinizing clear cell carcinoma (HCCC) is a rare, low-grade malignant tumor of the salivary gland. It usually originates from the minor salivary gland, with the most common site being the palate, followed by the lips and the buccal mucosa. The occurrence of HCCC at the base of the tongue (BOT) is extremely uncommon, thus it must be differentiated from other malignant clear cell tumors. Immunohistochemistry is a useful tool to make an appropriate diagnosis. To obtain the best prognosis for HCCC, complete surgical resection is necessary. Here we report a case of a 47-year-old male with a benign-looking neoplasm in the right BOT, presenting with throat discomfort. A simple excisional biopsy revealed proliferative nests of clear cells within a hyalinized fibrous connective tissue. The final diagnosis by immunohistochemistry was HCCC with a positive resection margin. Re-operation secured a safety margin, and the lesion was completely resected.

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.
Carrier State ; Child, Preschool ; Exons ; Genes, X-Linked ; Genetic Counseling ; Humans ; Leukocytes ; Mothers ; Multiplex Polymerase Chain Reaction ; Retinoschisis* ; Visual Acuity ; Vitreous Hemorrhage