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One step at a time: Melanocytic differentiation in fusion-driven cutaneous neoplasms.

As dermatopathologists, we routinely diagnose melanocytic nevi, melanomas, and occasionally melanocytomas in our daily clinical practice. However, it is now clearly established that the presence of melanocytic differentiation in a tumor does not necessarily indicate any of the aforementioned diagnoses. Tumors such as clear cell sarcoma, malignant melanotic nerve sheath tumor, PEComa, melanotic neuroectodermic tumor of infancy, and even certain translocation-associated renal cell carcinomas all share the common characteristic of melanin synthesis. Over the past two decades, with the advent of molecular diagnostics, there has been an explosion of new data and discoveries in this field. Examples such as CRTC1::TRIM11 cutaneous tumors and MITF pathway-activated melanocytic tumors (ACTIN::MITF and MITF::CREM) have been incorporated into the latest edition of the WHO classification of skin tumors (5th ed). In a recent issue, Alexandrescu et al. reported another case of a dermal/subcutaneous melanocytic tumor harboring a MITF::CREM1 translocation. In a separate paper within the current issue, Li et al. present a case of clear cell sarcoma with the rare EWSR1::CREM fusion, which had initially been misdiagnosed as melanoma with regional and distant metastases. We warmly welcome these two very interesting and high-quality articles to our journal, and we eagerly anticipate what the future holds for this fascinating category of tumors.

The utility of SOX10 in mixed type desmoplastic melanoma with lymph node metastasis of the spindle cell component: A cautionary tale of inattentional blindness.

Desmoplastic melanoma (DM), a type of spindle cell melanoma separated into pure desmoplastic melanoma (PDM) and mixed desmoplastic melanoma (MDM) subtypes, can be a diagnostic challenge and easily confused for dermal scar, especially PDM. We report a 65-year-old white man who received a left thumb amputation after an initial biopsy for melanoma, an unclassified type with epithelioid morphology. The amputation and sentinel lymph node specimens were significant for residual melanoma with epithelioid morphology, dermal scar, and a slightly expanded "scar-like" capsular area in one of seven lymph nodes, which was diffusely positive for SOX10 on reflex sentinel lymph node immunohistochemical protocol. On re-review of the amputation "scar" like area, a subsequent SOX10 stain confirmed the diagnosis of MDM in this area with epithelioid and spindle cell morphology, significantly upgrading the tumor stage. We share this case to highlight: (i) MDM, although exceptionally uncommon, can result in a pure spindle cell lymph node metastasis, (ii) to encourage increased utilization of SOX10 to assess sentinel lymph node biopsies, especially in the context of melanomas with a spindle cell component, and (iii) share an example of inattentional blindness which was fortunately identified by reflex sentinel lymph node immunohistochemical protocols.

Open Access
A novel method to assess copy number variations in melanocytic neoplasms: Droplet digital PCR for precise quantitation of <i>MYC</i> and <i>MYB</i> genes

AbstractIntroductionWhile most melanocytic neoplasms can be classified as either benign or malignant by histopathology alone, ancillary molecular diagnostic tests can be necessary to establish the correct diagnosis in challenging cases. Currently, the detection of copy number variations (CNVs) by fluorescence in situ hybridization and chromosomal microarray (CMA) are the most popular methods, but remain expensive and inaccessible. We aim to develop a relatively inexpensive, fast, and accessible molecular assay to detect CNVs relevant to melanoma using droplet digital polymerase chain reaction (ddPCR) technology.MethodsIn this proof‐of‐concept study, we evaluated CNVs in MYC and MYB genes from 73 cases of benign nevi, borderline melanocytic lesions, and primary and metastatic melanoma at our institution from 2015 to 2022. A multiplexed ddPCR assay and CMA were performed on each sample, and the results were compared.ResultsConcordance analysis of ddPCR with CMA for quantification of MYC and MYB CNVs revealed a sensitivity and specificity of 89% and 86% for MYC and 83% and 74% for MYB, respectively.ConclusionWe demonstrate the first use of a multiplexed ddPCR assay to identify CNVs in melanocytic neoplasms. With further improvement and validation, ddPCR may represent a low‐cost and rapid tool to aid in the diagnosis of histopathologically ambiguous melanocytic tumors.