Proteus syndrome: a case with clonal chromosome aberration

Area of Science:

• Genetics
• Developmental Biology
• Oncology

Background:

• Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth of various tissues, including connective tissue nevi, epidermal nevi, and hyperostoses.
• The clinical presentation of Proteus syndrome is highly variable, making diagnosis challenging.
• The underlying molecular pathogenesis remains largely unknown, with theories pointing towards somatic gene alterations leading to mosaic effects.

Observation:

• A novel case of Proteus syndrome presented at birth with significant asymmetric hypertrophy of bone and soft tissues in the fingers.
• The patient also exhibited a chest tumor at birth.
• During follow-up, additional tumors were diagnosed in the rectum and urinary bladder.

Findings:

• Cytogenetic analysis of the excised chest tumor revealed a clonal chromosome aberration: 46,XY,add(9)(p13) in a mosaic pattern (5 cells), alongside normal male karyotype (30 cells).
• This finding supports the hypothesis of somatic mosaicism contributing to the syndrome's development.
• The identification of clonal aberrations provides a potential avenue for understanding the genetic underpinnings of Proteus syndrome.

Implications:

• This case contributes to the understanding of Proteus syndrome's complex clinical spectrum and genetic basis.
• The identification of specific chromosomal abnormalities in mosaic form may aid in future diagnostic approaches.
• Further research into somatic mutations in Proteus syndrome could lead to targeted therapies and improved patient management.