Fibrous Hamartoma of Infancy : Pathogenesis

Pathogenesis: Fibrous hamartoma of infancy (FHI) was previously considered to be a reactive or hamartomatous process. However, more recently, a small number of cases that underwent cytogenetic analysis showed complex structural rearrangements involving chromosomes 1, 2, 4, and 17. Some cases showed reciprocal translocation t(2;3)(q31;q21). In addition, insertion/duplication mutations in exon 20 of EGFR have also been documented. Based on these genetic findings and the potential for recurrence, FHI is now considered to be a neoplasm rather than a hamartomatous process.

The image shows giant cell fibroblastoma-like area in a case of FHI. See description in the previous image.