PRAME (Preferentially Expressed Antigen In Melanoma)

NGS identified an AKAP9 (exon 32)::BRAF (exon 9) fusion, without TERT promoter mutations or other high-risk alterations. This case highlights a rare molecular subset of Spitz melanocytoma and underscores the importance of integrated molecular and histopathological assessment for accurate diagnosis, prognostic evaluation, and potential targeted therapy.

Treatment similar to that of melanoma was commenced with pembrolizumab, which he completed without significant side-effects...Paediatric metastatic atypical DPN is not documented. Paediatric oncology supraspecialist MDT consensus was mandatory for management and support for our patient.

Standardized reporting is crucial for accurate diagnosis, management and prognosis. Improving compliance with core data reporting will enhance the quality of pathological information, which in turn enhances clinical decision making.

Further, in a subset of TP53 -mutant disease, low TCR diversity with skewing toward dominant clonotypes foreshadowed relapse. These findings lay the groundwork for improved relapse prediction and nominate therapeutic targets for early post-transplant intervention.

In the context of the imaging and molecular study results, a diagnosis of giant cellular blue nevus was made. This case highlights a rare presentation of giant CBN and the utility of integrating next-generation sequencing with histopathologic evaluation to distinguish the latter from melanoma and support clinical decision making.

P1, N=840, Active, not recruiting, TScan Therapeutics, Inc. | Recruiting --> Active, not recruiting

This study suggests that PRAME IHC is negative in the melanocytic components of RTMN, distinguishing it from melanoma. However, PRAME positivity in the fibroblastic scar component warrants careful interpretation to avoid diagnostic pitfalls. These findings emphasize the importance of considering the histological context when using PRAME as a diagnostic marker in RTMN.

Retinoblastoma survivors face increased melanoma risk, especially of second cancers. This report highlights the necessity of regular dermatological surveillance and the diagnostic utility of immunohistochemistry in identifying metastases from melanomas occurring in this patient population.

These pilot data could question the usefulness of reexcision in <1 mm melanomas, particularly as only cases of in situ melanoma were detected. Larges prospective series would be required to answer this issue.

Additionally, the significant negative correlations between p16 and patient age, Breslow depth, and the Ki-67 index emphasize the predictive value of this still insufficiently described parameter. Taken together, these observations underscore the importance of integrating biomarker evaluation into melanoma management, enabling more precise prognostication and the development of individualized treatment strategies.

PRAME is an effective marker for melanoma diagnosis. A 50% threshold optimizes sensitivity while preserving specificity; however, histopathological evaluation remains the gold standard, and PRAME should be used only as an adjunct to avoid potential overdiagnosis, particularly in borderline lesions.

MITF delineates two UM subpopulations: (1) MITF-low tumors-slow proliferators with high invasive potential and inflammatory phenotype, and (2) MITF-high tumors-rapidly dividing cells with lower invasiveness and immunosuppressive properties. These findings suggest potential therapeutic strategies, including MITF re-induction for MITF-low tumors and dTYMK/PARP1 inhibitors for MITF-high UM.