Short communication
Cytogenetic characterization of a fibrous hamartoma of infancy with complex translocations

https://doi.org/10.1016/j.cancergencyto.2010.05.008Get rights and content

Abstract

Fibrous hamartoma of infancy is a rare pediatric superficial soft tissue lesion. The diagnosis depends on microscopic examination. Conventional cytogenetic analysis has been reported in only two previous cases, which showed apparently balanced translocations with involvement of different chromosomes. In the present study, we used multicolor fluorescence in situ hybridization to characterize a case of fibrous hamartoma of infancy that had arisen in an unusual location. This molecular analysis revealed complex structural rearrangements involving chromosomes 1, 2, 4, and 17.

Introduction

Fibrous hamartoma of infancy is a rare benign fibrous tumor that can appear at birth or develop in the first 2 years of life, predominantly in males. The presence of three distinct tissues (fibrous, adipose, and immature tissue resembling the primitive mesenchyme) is the hallmark of this fibrous growth, originally regarded as a reparative process and subsequently as a malformation [1]. Cytogenetic characterization might throw light on the biology of this rare lesion and improve our knowledge of the pathology of fibroblastic and myofibroblastic soft tissue proliferations. Previous cytogenetic studies of fibrous hamartoma of infancy in the literature consist of only two case reports, which described apparently balanced reciprocal translocations without a common characteristic between the two cases [2], [3].

Here we describe the cytogenetic features of a case of perineal fibrous hamartoma of infancy with different reciprocal translocations, in which multicolor fluorescence in situ hybridization (M-FISH) analysis revealed complex rearrangements of chromosomes 1, 2, 4, and 17.

Section snippets

Case history and results

A 14-month-old male infant came under our observation for a small painless subcutaneous lesion in the perineal right region that had appeared at 3 months of age. At admission, a freely movable superficial mass was observed, measuring 6 cm in greatest diameter. Magnetic resonance imaging and ultrasound scans showed a subcutaneous, solid mass; the possibility of a lipomatous or vascular tumor was excluded. A percutaneous core-needle biopsy was performed. Histologically, the features were in

Discussion

Although the histological diagnosis of fibrous hamartoma of infancy seldom represents a problem for experienced pathologists, the clinical diagnosis can be difficult, especially when a tumor arises in an unusual location, such as the scrotum, where other malignant tumors may occur (e.g., rhabdomyosarcoma). In this regard, cytogenetics might be of value both at a biological level, to untangle the etiological problem, and at a practical level, to allow diagnosis even on small pieces of tissue

Acknowledgments

We thank Cristina Rosanda for the critical reading of the manuscript. This work was supported by the Gerolamo Gaslini Foundation (Fondazione Gerolamo Gaslini), the Targeted Research program (Ricerca FinalizzataRF-IGG-2007-650460) and the Rotary International District 2030.

References (10)

There are more references available in the full text version of this article.

Cited by (23)

  • Hamartomas of skin and soft tissue

    2019, Seminars in Diagnostic Pathology
    Citation Excerpt :

    Immunohistochemistry shows variable expression of SMA (75%) in the myofibroblastic component and CD34 in the primitive mesenchymal component as well as the fibroblasts lining the spaces in hyalinized areas. S100 highlights the adipocytes only and desmin, keratin, EMA, ALK1, CD117, and nuclear beta-catenin are absent.71–73 EGFR exon 20 mutations were recently discovered in FHI, suggesting that despite the long held hamartoma nomenclature, this entity may actually be a neoplasm.74

  • Diagnostic Pathology: Pediatric Neoplasms

    2018, Diagnostic Pathology: Pediatric Neoplasms
  • Diagnostic Pathology: Soft Tissue Tumors

    2015, Diagnostic Pathology: Soft Tissue Tumors
View all citing articles on Scopus
View full text