Pediatric Non‐Neural Granular Cell Tumor With Unexpected Molecular Identity: A Case That Challenges Classification

A 7-year-old boy presented with a 3-year history of a slow-growing superficial cutaneous nodule adjacent to the right acromion, with subsequent development of a second subcutaneous mass near the right scapula. Biopsy of the primary lesion revealed a rare non-neural granular cell tumor (NNGCT) lacking S100 expression, distinguishing it from classic granular cell tumors (GCT), and molecular profiling identified a DCTN1::ALK fusion alongside an ATP6AP2 frameshift mutation, the latter reported predominantly in GCT. To our knowledge, this is the first documented NNGCT harboring both alterations, suggesting potential biologic overlap between NNGCT and GCT while expanding the current framework of granular cell tumor classification. This case also highlights the reported potential for recurrence and multifocal disease or regional spread in NNGCT, supporting complete surgical excision with long-term follow-up.

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Publication Details

Journal
Pediatric Dermatology
Published
2026-09-01
DOI
https://doi.org/10.1111/pde.70324
Primary Topic
Tumors and Oncological Cases
Type
article
Field-Weighted Citation Impact
0.00
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article

Pediatric Non‐Neural Granular Cell Tumor With Unexpected Molecular Identity: A Case That Challenges Classification

Nawal Merjaneh, Eduardo Zambrano, Danielle Vargas De Stefano, Brian Keehn et al.
Pediatric Dermatology
Tumors and Oncological Cases
article

Pediatric Non‐Neural Granular Cell Tumor With Unexpected Molecular Identity: A Case That Challenges Classification

Nawal Merjaneh, Eduardo Zambrano, Danielle Vargas De Stefano, Brian Keehn, Grace S. Saglimbeni, Maria-Meg Epino, Peaches Ulrich, Kristian Schafernak, Sierra Wolter
article en

Abstract

A 7-year-old boy presented with a 3-year history of a slow-growing superficial cutaneous nodule adjacent to the right acromion, with subsequent development of a second subcutaneous mass near the right scapula. Biopsy of the primary lesion revealed a rare non-neural granular cell tumor (NNGCT) lacking S100 expression, distinguishing it from classic granular cell tumors (GCT), and molecular profiling identified a DCTN1::ALK fusion alongside an ATP6AP2 frameshift mutation, the latter reported predominantly in GCT. To our knowledge, this is the first documented NNGCT harboring both alterations, suggesting potential biologic overlap between NNGCT and GCT while expanding the current framework of granular cell tumor classification. This case also highlights the reported potential for recurrence and multifocal disease or regional spread in NNGCT, supporting complete surgical excision with long-term follow-up.

Pediatric Dermatology
Creighton University (US), University of Arizona (US), Center for Cancer and Blood Disorders (US), Phoenix Children's Hospital (US), Caris Life Sciences (United States) (US)
Openalex Percentile: Top 11%
Tumors and Oncological Cases
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