Exploring the molecular pathogenetic basis of cutaneous lymphomas

Bastidas Torres, A.N.

Cutaneous lymphomas are hematological malignancies that present in the skin without evidence of extracutaneous disease at the time of diagnosis. This thesis explores the pathogenetic basis of common and rare cutaneous lymphoma entities (i.e. tumor-stage mycosis fungoides, primary cutaneous anaplastic large cell lymphoma, primary cutaneous CD8+ aggressive epidermotropic cytotoxic T‐cell lymphoma, blastic plasmacytoid dendritic cell neoplasm) by studying them using next-generation sequencing approaches. These studies had a special focus on structural genomic alterations (i.e. genomic rearrangements, copy number alterations), since a detailed examination of this type of genetic defects in cutaneous lymphomas using high-resolution techniques had been largely neglected in prior molecular studies. The body of work presented in this thesis expanded the understanding of the pathogenetic basis of four different cutaneous lymphoma entities. Firstly, it showed that structural genomic...Show moreCutaneous lymphomas are hematological malignancies that present in the skin without evidence of extracutaneous disease at the time of diagnosis. This thesis explores the pathogenetic basis of common and rare cutaneous lymphoma entities (i.e. tumor-stage mycosis fungoides, primary cutaneous anaplastic large cell lymphoma, primary cutaneous CD8+ aggressive epidermotropic cytotoxic T‐cell lymphoma, blastic plasmacytoid dendritic cell neoplasm) by studying them using next-generation sequencing approaches. These studies had a special focus on structural genomic alterations (i.e. genomic rearrangements, copy number alterations), since a detailed examination of this type of genetic defects in cutaneous lymphomas using high-resolution techniques had been largely neglected in prior molecular studies. The body of work presented in this thesis expanded the understanding of the pathogenetic basis of four different cutaneous lymphoma entities. Firstly, it showed that structural genomic alterations play important roles in the pathobiology of cutaneous lymphomas. Secondly, it identified recurrently affected genes and cellular processes/pathways in each of the analyzed malignancies. Finally, it provided molecular insights that may be instrumental for the development of novel therapies in the future.
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Exploring the molecular pathogenetic basis of cutaneous lymphomas

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