Fetal rhabdomyoma of the head and neck: A clinicopathologic and immunophenotypic study of 24 cases

Abstract

Twenty-four fetal rhabdomyomas (FRMs) of the head and neck occurring in 16 male and seven female patients (sex unknown in one), ranging from 3 days to 58 years of age (median, 4.5 years) are reported. Ten patients (42%) were ≤1 year old, six lesions (25%) were congenital, and 11 lesions (46%) occurred in patients ≥ 15 years of age. The median tumor size was 3.0 cm (range, 1.0 to 12.5 cm). The FRMs presented as well-defined, solitary masses arising within the soft tissue or mucosa (2:1) of the head and neck. The median follow-up in 15 cases was 48 months (range, 2 months to 52 years) after diagnosis. With the exception of one patient with a local recurrence, all patients were either alive and well or dead of unrelated causes. Eight cases, regarded as “classic” FRM, consisted predominantly of bland, primitive spindled cells associated with delicate, elongated skeletal muscle cells reminiscent of fetal myotubules that were haphazardly arranged in an abundant fibromyxoid stroma. The remaining 16 cases, designated as “intermediate” FRM, displayed both a greater degree and a greater number of cells with skeletal muscle differentiation as well as a variety of distinctive cytologic and architectural features. These included the presence of large, ganglion cell-like rhabdomyoblasts with vesicular nuclei and prominent nucleoli, interlacing ribbon or strap-like rhabdomyoblasts with deeply acidophilic cytoplasm, broad bundles of more delicate spindled rhabdomyoblasts arranged in fascicles simulating smooth muscle, an occasional plexiform pattern with infiltration of adipose tissue and skeletal muscle, focal intimate association with peripheral nerves, and rare areas of fibroblastic proliferation. Mitoses were not found in 19 of the 24 FRM cases, but in five tumors there were 1 to 14 mitoses/50 high-power fields. Marked nuclear atypia, anaplasia, and a “cambium layer” were uniformly absent. The FRMs typically stained for myoglobin, desmin, and muscle-specific actin with focal or rare staining for vimentin, smooth muscle actin, S-100 protein, glial fibrillary acidic protein, and Leu-7. Cytokeratin, epithelial membrane antigen, and CD68 antigen (with KP1) were not detected. This study expands on previous reports of FRM and demonstrates that it has both a broader age range and histologic spectrum than previously recognized. The mitotic rates of FRM as well as certain histologic features overlap with rhabdomyosarcoma; the lack of marked nuclear atypia is an important distinguishing feature. The intimate association of some FRMs with peripheral nerves and a focal fibroblastic proliferation in conjunction with S-100 protein and glial fibrillary acidic protein in some cases raises the possibility that at least some FRMs may be related to neuromuscular hamartoma (benign Triton tumor).