Trichogerminoma with malignant transformation.

Trichogerminoma (TG) is a rare adnexal tumor with hair follicle differentiation with less than 50 cases reported in the literature. In 2022, by investigating the genetic profile of 21 cases, our group identified recurrent rearrangements of the GRHL1/2/3 genes in this tumor entity, suggesting such alteration as the main oncogenic driver in TG. Up to now, only one TG case of malignant transformation has been reported.

DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.

The enzyme dihydropyrimidine dehydrogenase (DPD) is the primary catabolic pathway of fluoropyrimidines including 5 fluorouracil (5FU) and capecitabine. Cases of lethal toxicity have been reported in cancer patients with complete DPD deficiency receiving standard dose of 5FU or capecitabine. DPD is encoded by the pharmacogene DPYD in which more than 200 variants have been identified.

Erratum: Real-life efficacy of immunotherapy for Sézary syndrome: a multicenter observational cohort study.

[This corrects the article DOI: 10.1016/j.eclinm.

PDE4D drives rewiring of the MAPK pathway in BRAF-mutated melanoma resistant to MAPK inhibitors.

Background: Phosphodiesterase type 4D (PDE4D) breaks down cyclic AMP (cAMP) reducing the signaling of this intracellular second messenger which plays a major role in melanocyte pathophysiology. In advanced melanoma, expression of PDE4D is increased, plays a role in tumor invasion and is negatively associated with survival. In the current work, we investigated the role of PDE4D in the resistance of BRAF-mutated melanoma to mitogen-activated protein kinase (MAPK) pathway-targeted therapy.