Somatic mutations and follow-up of short telomere syndrome patients with CHIP-associated mutations (n = 6)
| Age, y . | M/F . | Germline mutation . | Somatic mutation(s) . | Somatic VAF, % . | Marrow failure . | Follow-up from NGS, mo . | Survival . |
|---|---|---|---|---|---|---|---|
| 52 | F | TR r.80U>A | GNAS Ile119_Glu122del | 32.9 | Moderate AA | 6 | Died, IPF |
| TET2 Gln275Ilefs*18 | 6.2 | ||||||
| TET2 Ala1341Cysfs*3 | 5.4 | ||||||
| TET2 Pro1115Leufs*2 | 3.3 | ||||||
| 54 | F | RTEL1 c.1135+1G>A | CBLB c.1594-1G>T | 7.0 | ↑MCV | 32 | Alive, PF |
| 55 | F | RTEL1 Arg986Ter | TP53 Arg282Trp | 2.5 | None | 34 | Died, lung transplant* |
| 66 | M | Unknown (low TR) | TP53 Gly245Ser | 8.6 | ↑MCV, mild thrombocytopenia | 7 | Died, IPF |
| U2AF1 Ser34Phe | 5.8 | ||||||
| ETV6 Leu376Pro | 5.4 | ||||||
| TET2 Gln810Ter | 2.2 | ||||||
| 67 | M | TERT Arg858Trp | TP53 Leu265Pro | 7.2 | None | 40 | Died, PF |
| 76 | M | Unknown | ASXL1 Gly646Trpfs*12 | 12.3 | None | 20 | Alive, IPF |
| Age, y . | M/F . | Germline mutation . | Somatic mutation(s) . | Somatic VAF, % . | Marrow failure . | Follow-up from NGS, mo . | Survival . |
|---|---|---|---|---|---|---|---|
| 52 | F | TR r.80U>A | GNAS Ile119_Glu122del | 32.9 | Moderate AA | 6 | Died, IPF |
| TET2 Gln275Ilefs*18 | 6.2 | ||||||
| TET2 Ala1341Cysfs*3 | 5.4 | ||||||
| TET2 Pro1115Leufs*2 | 3.3 | ||||||
| 54 | F | RTEL1 c.1135+1G>A | CBLB c.1594-1G>T | 7.0 | ↑MCV | 32 | Alive, PF |
| 55 | F | RTEL1 Arg986Ter | TP53 Arg282Trp | 2.5 | None | 34 | Died, lung transplant* |
| 66 | M | Unknown (low TR) | TP53 Gly245Ser | 8.6 | ↑MCV, mild thrombocytopenia | 7 | Died, IPF |
| U2AF1 Ser34Phe | 5.8 | ||||||
| ETV6 Leu376Pro | 5.4 | ||||||
| TET2 Gln810Ter | 2.2 | ||||||
| 67 | M | TERT Arg858Trp | TP53 Leu265Pro | 7.2 | None | 40 | Died, PF |
| 76 | M | Unknown | ASXL1 Gly646Trpfs*12 | 12.3 | None | 20 | Alive, IPF |
AA, aplastic anemia; IPF, idiopathic pulmonary fibrosis; MCV, mean corpuscular volume; PF, pulmonary fibrosis; NGS, next-generation sequencing.
This patient died of extrahematopoietic complications including renal failure 30 months after lung transplantation.