Journal of Dermatology最新文献

Primary malignant melanoma of the esophagus (PMME) accounts for only 0.5% of all melanomas but is associated with the shortest interval to disease progression and the highest metastasis rate. The optimal treatment for PMME remains elusive. The present study aimed to assess the utility of screening as a means of predicting the prognosis of PMME and to determine the efficacy of surgery and immune checkpoint inhibitors (ICIs) against this disease. Fifty-two patients with PMME treated at the National Cancer Center Hospital in Japan between 2010 and 2023 were enrolled. Survival analysis was performed for (i) patients with PMME (n = 52); (ii) resectable cases at the initial presentation (n = 36); and (iii) cases with systemic therapy (n = 37). The 5-year overall survival (OS) rate was 45.0%, and the median OS was 55.8 months. The 5-year OS rate of the patients in whom PMME was detected by screening and those in whom it was diagnosed clinically was 54.7% and 40.1%, respectively (p = 0.255). The presence of a lymph node metastasis was associated with a significantly higher recurrence and poorer prognosis. The 3-year RFS rate of the patients at the local and nodal stage was 57.8% and 6.9%, respectively (p < 0.0001). At surgery, the rate of lymph node metastasis in the recurrence group and the nonrecurrence group was 68% and 10%, respectively (p = 0.0027). In the patients who received ICI therapy, the 3-year OS was 33.3%, the median OS was 15.0 months, and the overall response rate was 23.5%. Our findings suggested that ICI therapy may improve survival in patients with advanced PMME. However, further research is warranted to identify both the clinical and molecular predictors of the treatment response as a means of improving patient selection.

Pathological information is critical to patient management in melanoma. A uniform approach based on current evidence is crucial and is summarized in this paper. Essential clinical and pathological parameters to report are the BAUSSS biomarker prognostic criteria, that is, Breslow thickness, patient age, presence of ulceration, melanoma subtype, patient sex, and anatomic site. Other important parameters to include are adnexal and periadnexal extension, tumor infiltrating lymphocytes, intravascular and abluminal lymphovascular invasion, microsatellites, in-transit metastases, perineural invasion, and margins. Additional parameters that have been recommended for inclusion are mitotic activity, regression, association with nevi and atypical melanocytic hyperplasia. The significance of special stains and genetic studies is also discussed.

Multifocal venous malformation (VM) is a rare vascular disorder characterized by multiple cutaneous and visceral venous malformations caused by somatic variants in the TEK gene, which encodes the TIE2 receptor. We report a 30-year-old man presenting with multiple subcutaneous nodules and oral lesions. MRI revealed multiple masses around the left scapula. A biopsy from a lumbar lesion showed dilated venous channels, and immunohistochemistry was positive for CD31. There was no evidence of anemia. Genetic analysis using next-generation sequencing of both skin and blood identified two somatic TEK variants, p.(Tyr897Cys) and p.(Arg918His), restricted to the lesion tissue. Bulk phasing analysis revealed that Y897C and R918H existed both as single variants and as double variants in cis. The absence of these variants in blood confirmed their somatic origin. Based on clinical and pathological findings, the patient was diagnosed with multifocal VM. Clinically, this case resembled multifocal sporadic VM; however, the genetic profile was consistent with blue rubber bleb nevus syndrome, suggesting this case may represent an intermediate phenotype between the two entities. The involvement of the PI3K/AKT/mTOR signaling pathway implies potential therapeutic benefit from mTOR inhibitors, such as sirolimus. Close follow-up is ongoing due to progressive oral involvement.