[Skip to Content]
[Skip to Content Landing]
Views 273
Citations 0
Brief Report
January 2018

Association of Clinical, Dermoscopic, and Histopathologic Findings With Gene Expression in Patients With Balloon Cell Melanoma

Author Affiliations
  • 1Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania
  • 2Medical student at Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania
JAMA Dermatol. 2018;154(1):77-81. doi:10.1001/jamadermatol.2017.4700
Key Points

Question  What are the clinical, dermoscopic, and histopathologic features of balloon cell melanoma and what is their association with gene expression?

Findings  In a case series of 2 patients with balloon cell melanoma, a translucent area on gross examination and semitranslucent white-gray veil and dull yellow globules on dermoscopic examination were features of the balloon cell melanocytic region. Gene expression profiling corroborated that architectural abnormalities provided a better clue than cytologic atypia to the diagnosis of melanoma.

Meaning  Balloon cell melanomas may present with characteristic clinical and dermoscopic findings, facilitating recognition, and adjunctive gene expression testing may provide additional diagnostic information in cases of difficult-to-interpret lesions.

Abstract

Importance  Balloon cell melanoma is a rare subtype of melanoma that is underrecognized clinically and is challenging to diagnose on histologic studies.

Objective  To further characterize the clinical, dermoscopic, and histopathologic features of balloon cell melanomas and their correlation to gene expression.

Design, Setting, and Participants  Case series of 2 patients with balloon cell melanoma whose medical records were retrieved from the database of Thomas Jefferson University Dermatopathology Center in Philadelphia, Pennsylvania. Both cases had been referred to the institution’s dermatopathology laboratory and provided complete data on clinical, dermoscopic, and histopathologic findings and gene-expression profiles.

Main Outcomes and Measures  Dermoscopic findings, histopathologic findings, and results of gene expression tests.

Results  In the 2 patients included, translucent hypopigmented areas on gross examination and a translucent white-gray veil and dull yellow globules on dermoscopic examination correlated with the balloon cell melanocytic region demonstrated on histologic studies with hematoxylin-eosin stain. Specifically, dull yellow globules corresponded to the balloon cell melanocytic nests. Both lesions presented with a second, morphologically distinct population of melanocytes, common in balloon cell melanocytic neoplasms. In both cases, a prominent junctional component that consisted of cells demonstrating ample clear-to-granular cytoplasm and a central nucleus were present. Cytologic atypia was minimal to lacking in both cases, and architectural disorder served as a better clue to the diagnosis. Findings of a gene expression profiling test corroborated the diagnosis in both cases.

Conclusions and Relevance  Balloon cell melanomas may present with characteristic clinical and dermoscopic findings, and a gene expression profiling test may provide additional useful diagnostic information in cases that are difficult to interpret.

×