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Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells

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Published on: June 7, 2019

Late Recurrent Spitz Melanoma With a TMEM106B :: BRAF Fusion.

Shunsuke Koga¹, Giorgos C Karakousis², Guang Yang¹

¹Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA; and.

The American Journal of Dermatopathology

|February 21, 2025

Summary

A rare case of cutaneous melanoma recurred 36 years after initial diagnosis. Genetic analysis revealed a novel TMEM106B :: BRAF fusion, highlighting molecular profiling

Keywords:

Spitz melanoma gene fusion late recurrence

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Area of Science:

Oncology
Dermatology
Genetics

Background:

Melanoma is a heterogeneous cancer with potential for late recurrence.
Delayed recurrence poses diagnostic and therapeutic challenges.
Spitzoid melanoma is a distinct subset requiring precise classification.

Purpose of the Study:

To report an unusual case of late-recurrent cutaneous melanoma.
To characterize the histopathology and genetic profile of the recurrent tumor.
To investigate the role of molecular profiling in diagnosing rare melanoma subtypes.

Main Methods:

Case report of a 70-year-old male with late-stage melanoma recurrence.
Histopathological evaluation of tumor tissue.
Targeted next-generation sequencing for genetic mutation and fusion analysis.

Main Results:

Recurrence of metastatic cutaneous melanoma 36 years post-initial diagnosis.
Histopathology consistent with Spitzoid melanoma.
Identification of a novel TMEM106B :: BRAF fusion, CHEK2, and MUTYH mutations.

Conclusions:

This case highlights the possibility of extremely late melanoma recurrence.
The novel TMEM106B :: BRAF fusion supports Spitz melanoma classification.
Molecular profiling is crucial for accurate melanoma diagnosis and potential targeted therapies.