Pediatric Primary cutaneous T-cell neoplasms
2023-05-22 Sheng Xiao, MD , Chunxiao Yang Affiliation1.Brigham and Women's Hospital
Classification
Definition
| Primary cutaneous T-cell neoplasms | Genetic marker(s) |
|---|---|
| Mycosis fungoides | MF is a cutaneous T-cell lymphoma with clonal small to medium-sized mature T cells. Mutated genes are enriched in JAK3/STAT3 signaling, MAPK signaling, and epigenetic regulation. Common mutations include TNFRSF1B, KMT2C, TP53, KRAS, PLCG1, DNMT3A.1 |
| Primary cutaneous CD30-positive T-cell lymphoproliferative disorders | Primary cutaneous CD30+ lymphoproliferative disorders include lymphomatoid papulosis (LyP) and cutaneous anaplastic large cell lymphoma (C-ALCL), with a good prognosis for both subtypes. Chromosome rearrangements/ gene fusions are dominant drivers, including NPM1::ALK from t(2;5)(p23;q35), DUSP22::FRA7H from t(6;7)(p25.3;q32.3), TP63::TBL1XR1 from inv(3)(q26q28), and NPM1::TYK2 from t(5;19)(q35;p13). Additional frequently mutated genes include STAT3, H3K4, KMT2D, KMT2A, SETD2, CREBBP, TP53.2-5 |
| Subcutaneous panniculitis-like T-cell lymphoma | SPTCL is a CD8+ cytotoxic α/β T-cell lymphoma mimicking panniculitis. PI3K/AKT/mTOR and JAK‐STAT signaling are involved in tumorigenesis.6,7 Germline mutation in HAVCR2 (encoding T-cell immunoglobulin mucin 3) is a genetic factor that predisposes to this disease. Additional frequently mutated genes include UNC13D, PIAS3, KMT2D.8 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 32039026 | 2019 | An Update on Molecular Biology of Cutaneous T Cell Lymphoma. | Walia R et al |
| 2 | 32049976 | 2020 | Evidence linking atopy and staphylococcal superantigens to the pathogenesis of lymphomatoid papulosis, a recurrent CD30+ cutaneous lymphoproliferative disorder. | Kadin ME et al |
| 3 | 15165197 | 2004 | Three children with CD30 cutaneous anaplastic large cell lymphomas bearing the t(2;5)(p23;q35) translocation. | Hinshaw M et al |
| 4 | 34977845 | 2022 | Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders. | Abdulla FR et al |
| 5 | 30630983 | 2019 | CD30-positive primary cutaneous lymphoproliferative disorders: molecular alterations and targeted therapies. | Prieto-Torres L et al |
| 6 | 28294301 | 2018 | Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma. | Li Z et al |
| 7 | 30792187 | 2019 | Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma. | Polprasert C et al |
| 8 | 30374066 | 2018 | Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. | Gayden T et al |
Citation
Sheng Xiao, MD ; Chunxiao Yang
Pediatric Primary cutaneous T-cell neoplasms
Atlas Genet Cytogenet Oncol Haematol. 2023-05-22
Online version: http://atlasgeneticsoncology.org/solid-tumor/209158/pediatric-primary-cutaneous-t-cell-neoplasms
