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A complex translocation (6;12;8)(q25;q24.3;q13) in a fibrous hamartoma of infancy

Anne-Laure Rougemont1, Raouf Fetni, Sabita Murthy

  • 1Department of Pathology, CHU Sainte-Justine, 3175, Côte-Sainte-Catherine, Montréal, Quebec, Canada.

Cancer Genetics and Cytogenetics
|November 23, 2006
PubMed

Insights

This case study details a rare fibrous hamartoma of infancy in a child, successfully treated with surgery. The study also identified a unique chromosomal translocation, t(6;12;8)(q25;q24.3;q13), offering new insights into this condition.

Area of Science:

  • Pediatric Oncology
  • Human Genetics
  • Surgical Pathology

Background:

  • Fibrous hamartoma of infancy is a rare, benign soft tissue tumor typically presenting in early childhood.
  • Accurate diagnosis and understanding of its genetic underpinnings are crucial for patient management and prognosis.

Observation:

  • An 18-month-old girl presented with a left cervical mass, which was surgically excised 16 months later.
  • Histopathological examination confirmed the diagnosis of fibrous hamartoma of infancy.
  • The patient experienced an uneventful recovery with no signs of recurrence.

Findings:

  • Cytogenetic analysis revealed a novel complex translocation, t(6;12;8)(q25;q24.3;q13), involving chromosomes 6, 8, and 12.
  • This finding represents the second reported cytogenetic analysis for fibrous hamartoma of infancy and differs from the previously identified reciprocal translocation t(2;3)(q31;q21).

Implications:

  • This case expands the understanding of the genetic landscape of fibrous hamartoma of infancy.
  • The identification of a new chromosomal abnormality may aid in future diagnostic approaches and research into the pathogenesis of this rare tumor.

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