Pediatric Primary cutaneous T-cell neoplasms
2023-06-25 Sheng Xiao, MD , Chunxiao Yang Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2. Brigham and Women's Hospital, Harvard Medical School, Boston , MA (USA)
Classification
Definition
Pediatric primary cutaneous T-cell neoplasms (pPCTCLs) are a group of rare lymphomas that primarily affect the skin in children and adolescents, although they can occasionally involve lymph nodes and other organs. The presentation, diagnosis, and treatment of PCTCLs in children are generally similar to those in adults, however, there may be some differences in clinical behavior and response to therapy. 1,2
Due to the rarity of pPCTCLs, the available data and research are limited.
| Pediatric 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.3 | |
| 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, TP53.4-7 | |
| 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.8,9 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.10 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 27229270 | 2016 | Primary Cutaneous Lymphomas in Children and Adolescents. | Ceppi F et al |
| 2 | 33861015 | 2021 | Primary cutaneous T-cell lymphomas in childhood and adolescence. | Wohlmuth-Wieser I et al |
| 3 | 32039026 | 2019 | An Update on Molecular Biology of Cutaneous T Cell Lymphoma. | Walia R et al |
| 4 | 32049976 | 2020 | Evidence linking atopy and staphylococcal superantigens to the pathogenesis of lymphomatoid papulosis, a recurrent CD30+ cutaneous lymphoproliferative disorder. | Kadin ME et al |
| 5 | 15165197 | 2004 | Three children with CD30 cutaneous anaplastic large cell lymphomas bearing the t(2;5)(p23;q35) translocation. | Hinshaw M et al |
| 6 | 34977845 | 2022 | Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders. | Abdulla FR et al |
| 7 | 30630983 | 2019 | CD30-positive primary cutaneous lymphoproliferative disorders: molecular alterations and targeted therapies. | Prieto-Torres L et al |
| 8 | 28294301 | 2018 | Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma. | Li Z et al |
| 9 | 30792187 | 2019 | Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma. | Polprasert C et al |
| 10 | 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. 2023-06-25
Online version: http://atlasgeneticsoncology.org/solid-tumor/209187/pediatric-primary-cutaneous-t-cell-neoplasms
