Clinical, ethnic, and genetic characteristics of enrolled patients with SPTCL
| UPN . | Sex . | Age, y . | Ethnicity . | Family history of SPTCL . | Skin lesion . | Fever . | HLH . | Underlying disease . | Treatment . | Outcome . | TCR rearrangement . | HAVCR2 germline mutation . | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| aa change . | Allelic status . | ||||||||||||
| 1 | M | 37 | Asian | No | Buccal | No | No | N.P. | CHOP/CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 2 | F | 30 | Asian | No | Upper limbs | No | No | N.P. | PSL/CsA | Relapse | Monoclonal | Y82C/T101I | Compound heterozygous |
| 3 | F | 41 | Asian | No | Generalized | Yes | No | N.P. | CsA | CR | Oligoclonal | Y82C | Homozygous |
| 4 | F | 35 | Asian | No* | Trunk/eyelid | No | No | N.P. | CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 5 | F | 26 | Asian | No | Generalized | Yes | Yes | N.P. | EPOCH | Relapse | Monoclonal | Y82C | Homozygous |
| 6 | F | 32 | Asian | No | Trunk | No | No | N.P. | CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 7 | M | 24 | Asian | No | Trunk | Yes | No | N.P. | CsA | CR | Monoclonal | Y82C | Homozygous |
| 8 | M | 28 | Asian | No | Trunk | No | No | N.P. | CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 9 | F | 27 | Asian | No | Lower limb | No | Yes | HIV infection | CsA | Dead | N.A. | Wild-type | N.A. |
| 10 | F | 5 | Asian | No | Lower limbs | Yes | No | N.P. | PSL/CsA | CR | Monoclonal | Y82C | Homozygous |
| 11 | F | 46 | Asian | No | Generalized | Yes | Yes | SLE | CsA | Relapse | Monoclonal | Wild-type | N.A. |
| 12 | F | 59 | Asian | No | Eyelid | Yes | Yes | N.P. | CsA | PR | Monoclonal | Y82C | Homozygous |
| 13 | M | 33 | Asian | No | Trunk | No | No | N.P. | CsA | Relapse | N.A. | Y82C | Homozygous |
| UPN . | Sex . | Age, y . | Ethnicity . | Family history of SPTCL . | Skin lesion . | Fever . | HLH . | Underlying disease . | Treatment . | Outcome . | TCR rearrangement . | HAVCR2 germline mutation . | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| aa change . | Allelic status . | ||||||||||||
| 1 | M | 37 | Asian | No | Buccal | No | No | N.P. | CHOP/CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 2 | F | 30 | Asian | No | Upper limbs | No | No | N.P. | PSL/CsA | Relapse | Monoclonal | Y82C/T101I | Compound heterozygous |
| 3 | F | 41 | Asian | No | Generalized | Yes | No | N.P. | CsA | CR | Oligoclonal | Y82C | Homozygous |
| 4 | F | 35 | Asian | No* | Trunk/eyelid | No | No | N.P. | CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 5 | F | 26 | Asian | No | Generalized | Yes | Yes | N.P. | EPOCH | Relapse | Monoclonal | Y82C | Homozygous |
| 6 | F | 32 | Asian | No | Trunk | No | No | N.P. | CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 7 | M | 24 | Asian | No | Trunk | Yes | No | N.P. | CsA | CR | Monoclonal | Y82C | Homozygous |
| 8 | M | 28 | Asian | No | Trunk | No | No | N.P. | CsA | Relapse | Monoclonal | Y82C | Homozygous |
| 9 | F | 27 | Asian | No | Lower limb | No | Yes | HIV infection | CsA | Dead | N.A. | Wild-type | N.A. |
| 10 | F | 5 | Asian | No | Lower limbs | Yes | No | N.P. | PSL/CsA | CR | Monoclonal | Y82C | Homozygous |
| 11 | F | 46 | Asian | No | Generalized | Yes | Yes | SLE | CsA | Relapse | Monoclonal | Wild-type | N.A. |
| 12 | F | 59 | Asian | No | Eyelid | Yes | Yes | N.P. | CsA | PR | Monoclonal | Y82C | Homozygous |
| 13 | M | 33 | Asian | No | Trunk | No | No | N.P. | CsA | Relapse | N.A. | Y82C | Homozygous |
aa, amino acid; CHOP, cyclophosphamide, doxorubicin hydrochloride (hydroxydaunorubicin), vincristine sulfate (Oncovin), and prednisone; CR, complete remission; CsA, cyclosporin A; EPOCH, etoposide phosphate, prednisone, vincristine sulfate (Oncovin), cyclophosphamide, doxorubicin hydrochloride (hydroxydaunomycin); F, female; M, male; N.A., not assessed; N.P., nothing particular; PR, partial remission; PSL, prednisolone; UPN, unique patient number.
A cousin developed nodal lymphoma of unknown type.