case_images: PMC11272527_01
case_images: Clinical photo of the index patient demonstrating multiple cafe-au-lait macules over the trunk and a congenital melanocytic nevus at the lower trunk.
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case_images: f1
case_images: Physical examination revealed a child with multiple cafe-au-lait macules over the trunk and back and a congenital hyperpigmented nevus measuring 4 cm x 3 cm over the lower trunk ( Figure 1 ), while a pelvic mass was palpable on abdominal examination.
case_images: Histopathology of the core biopsy. (A) Intermediate power of a representative segment of the biopsy in routine stain showing loose clusters of maturing neuroblastic cells (central area) in a background of spindle Schwannian cells and some inflammatory cells, including eosinophils. (B) High power of the maturing neuroblastic cells, including ganglion cells with abundant eosinophilic and peripheral basophilic cytoplasm, round nuclei, and often with prominent nucleoli. (C) Immunostain PHOX2B, which is a neuroblastic marker, staining the nuclei of the neuroblastic cells brown. Original magnifications: (A) x100 and (B, C) x400. The bar below the photo indicates 100 microm.
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case_images: An ultrasound-guided core biopsy of the tumor was performed with nine biopsy cores taken, and the pathology revealed predominantly Schwannian spindle cell proliferation in collagenous stroma ( Figure 2A ). There are scattered clusters of mature ganglion cells associated with maturing neuroblastic cells ( Figure 2B ). Immunostaining confirms Schwannian stroma with a strong and diffuse reaction for S100, while the ganglionic and maturing neuroblastic cells are positive for synaptophysin and the neuroblastic marker PhoxB2 ( Figure 2C ).
case_images: Comparison of sagittal postcontrast T1-weighted images before treatment (A) with follow-up MRI (B) showed reduced thickness of the solid component of ganglioneuroma from 18.8 mm to 11.9 mm. There is also an interval reduction in the degree of enhancement of solid components. Contrasting coronal T2-weighted short-tau inversion recovery (STIR) before treatment (C) with follow-up MRI (D) showed a reduction in thickness of the solid component of ganglioneuroma from 42.6 mm to 31.0 mm. Multiple subcutaneous neurofibromata along the left lateral thigh (white arrow) also showed an interval reduction in size and extent in the follow-up MRI.
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case_images: f3
case_images: A follow-up MRI of the pelvis performed 6 months after the commencement of sirolimus ( Figures 3A, C ) also indicated a mild interval increase in the size of the main bulk of the posterior bladder tumor (50.3 mm x 42.6 mm x 18.8 mm). Her latest MRI was performed 10 months after initiation of trametinib, showing an interval decrease in tumor extent with less involvement over the left side ( Figures 3B, D , dimension: 48.0 mm x 31.0 mm x 11.9 mm).