Characteristics and treatment course of short telomere solid tumor patients (n = 6 cases)
| ID . | Age, y . | M/F . | Gene . | Mutation . | Cancer . | Stage . | Therapy . | Follow-up, mo . |
|---|---|---|---|---|---|---|---|---|
| 1* | 25 | M | DKC1 | Pro409Arg | SCC tongue | Stage I | Resection | 20 |
| 2* | 35 | M | DKC1 | Leu317Phe | SCC tongue | Stage II | Resection | 96 |
| 3* | 33 | M | DKC1 | IVS2-5C>G | SCC anal | Stage I | Resection, 5FU topical, Pembro, radiation | 4† |
| 36 | SCC oral cavity | Stage I | Resection | 16 | ||||
| 4* | 38 | M | DKC1 | Ala353Val | Adenocarcinoma rectal | Stage IIIA | Resection, FOLFOX | 24 |
| 5 | 53 | M | TERT | Ile686Met | SCC anal | Stage IIIB | Radiation | 30 |
| ID . | Age, y . | M/F . | Gene . | Mutation . | Cancer . | Stage . | Therapy . | Follow-up, mo . |
|---|---|---|---|---|---|---|---|---|
| 1* | 25 | M | DKC1 | Pro409Arg | SCC tongue | Stage I | Resection | 20 |
| 2* | 35 | M | DKC1 | Leu317Phe | SCC tongue | Stage II | Resection | 96 |
| 3* | 33 | M | DKC1 | IVS2-5C>G | SCC anal | Stage I | Resection, 5FU topical, Pembro, radiation | 4† |
| 36 | SCC oral cavity | Stage I | Resection | 16 | ||||
| 4* | 38 | M | DKC1 | Ala353Val | Adenocarcinoma rectal | Stage IIIA | Resection, FOLFOX | 24 |
| 5 | 53 | M | TERT | Ile686Met | SCC anal | Stage IIIB | Radiation | 30 |
5FU, 5-fluoruracil; F, female; FOLFOX, 5FU, oxaliplatin leukovorin regimen; M, male; Pembro, pembrolizumab; SCC, squamous cell carcinoma.
These 4 patients had classic mucocutaneous features of dyskeratosis congenita.
This patient had multiple local recurrences first detected 4 months after initial resection requiring multiple lines of therapy as listed. He had human papilloma virus–positive disease and a concurrent severe telomere-related T-cell immunodeficiency.