JAMA dermatology最新文献

Importance: Janus kinase 2 (JAK2) gene fusions characterize cytotoxic cutaneous T-cell lymphoma (CTCL) including primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma (pcAETCL). The identification of these fusions is rarely reported in indolent CTCL.

Objective: To characterize patients with CTCL to better understand the diagnostic, prognostic, and therapeutic significance of this molecular alteration in CTCL.

Design, setting, and participants: A retrospective case series of patients with CTCL with JAK2 fusions identified between the years 2000 and 2025. Fusions were identified by a custom RNA sequencing panel and by a targeted hybrid-capture-based next-generation DNA sequencing-based panel. The study included a single referral cancer center in the US.

Results: Overall, 43 patients (12 female [27.9%] and 31 male individuals [72.1%]; median [range] age, 45 [16-65] years) with CTCL who were found to have JAK2 gene fusions during evaluation and follow-up were included. Thirty-eight of the 43 identified patients (88.4%) with fusions of JAK2 and 10 different gene partners (most frequently ATXN2L, CAPRIN1, and PCM1) had mycosis fungoides (MF), CD30-positive lymphoproliferative disorders (LPD), or overlap presentations, whereas 4 pcAETCL and 1 peripheral T-cell lymphoma not otherwise specified were identified. Secondary genetic events included mutations of epigenetic and transcriptional regulators. Neither mutational burden, type, or fusion partner distinguished cases with early-stage or aggressive CTCL.

Conclusions and relevance: This case series found that JAK2 fusions were seen in aggressive cytotoxic CTCL as well as in T-cell lymphomas with more indolent behavior, possibly representing a precursor lesion to aggressive evolution with age and comorbidities. The prominence of these fusions supports a potentially larger role for JAK2 targeting in patients with early-stage MF, CD30-positive LPD, or overlap presentations.

Importance: Compounded with barriers to care, stigmatization, lack of trust, and high rates of psychiatric comorbidities, transmasculine patients face a high psychosocial burden from acne. Acne is a common sequela of masculinizing hormone therapy, and understanding its epidemiology may improve care for transmasculine patients.

Objective: To summarize current literature regarding prevalence and factors associated with acne in transmasculine patients.

Evidence review: A search was performed using Ovid MEDLINE, Web of Science, Scopus, CINAHL, ProQuest Dissertations & Theses, Scientific Electronic Library Online, Cochrane Library, and Global Index Medicus. Studies were included if they reported acne prevalence, severity, or treatment among 1 or more transmasculine patients.

Findings: Of 429 references identified by search terms, 38 met inclusion criteria. There were 12 010 patients across all studies, with 32 of the 38 articles focusing on transmasculine adults rather than adolescents. Methods of acne quantification varied among included studies. Studies using systematic grading scales reported an acne rate of 61.9% (223 of 360 patients) compared to 29.6% (1233 of 4163 patients) among retrospective reviews and 31.3% (892 of 2847 patients) among studies using self-reported data. Most studies showed the largest increase in acne prevalence at 6 to 12 months after masculinizing hormone therapy initiation. There was an association between younger age and increased acne but no meaningful associations between testosterone dosage nor route of administration.

Conclusions and relevance: In this scoping review, acne prevalence among transmasculine patients ranged from 29.6% to 61.9%, depending on methodology. Acne commonly developed within 6 to 24 months after testosterone initiation but occurred as early as the first month. Younger age at hormone initiation was associated with acne development, whereas dose and route of administration were not, suggesting that other factors in addition to exogenous testosterone play a role in the pathogenesis of acne for transmasculine patients.