Cytogenetic and comparative genomic hybridization studies of an esophageal giant fibrovascular polyp: a case report

Summary Esophageal giant fibrovascular polyps are rare and are thought to represent redundant tumorlike or hamartomatous esophageal folds. Although most patients present with slowly evolving dysphagia, a minority present with acute respiratory distress or even death caused by asphyxia. We present th...

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Bibliographic Details
Published in:Human pathology 2012-02, Vol.43 (2), p.293-298
Main Authors: Yu, Zhongxin, MD, Bane, Barbara L., MD, Lee, Ji-Yun, PhD, Pitha, Jan V., MD, PhD, Peyton, Marvin, MD, Houck, John, MD, Li, Shibo, MD
Format: Article
Language:English
Subjects:
Abnormal Karyotype
Biological and medical sciences
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 3
Comparative genomic hybridization
Comparative Genomic Hybridization - methods
Deglutition Disorders - genetics
Deglutition Disorders - pathology
Deglutition Disorders - surgery
Deoxyribonucleic acid
DNA
Esophageal Diseases - genetics
Esophageal Diseases - pathology
Esophageal Diseases - surgery
Esophageal giant fibrovascular polyp
Esophagectomy
Esophagus - pathology
Female
Gene Amplification
Hormone replacement therapy
Humans
Hybridization
Hypothyroidism
Investigative techniques, diagnostic techniques (general aspects)
Medical imaging
Medical sciences
Middle Aged
Pathology
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
Polyps - genetics
Polyps - pathology
Polyps - surgery
Ring chromosome
Ring Chromosomes
Studies
Tomography
Treatment Outcome
Tumors
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Summary:Summary Esophageal giant fibrovascular polyps are rare and are thought to represent redundant tumorlike or hamartomatous esophageal folds. Although most patients present with slowly evolving dysphagia, a minority present with acute respiratory distress or even death caused by asphyxia. We present the pathologic and cytogenetic findings of an 18-cm esophageal giant fibrovascular polyp in a 49-year-old woman who presented with odynophagia and dysphagia. The histologic findings are that of classic esophageal giant fibrovascular polyp as previously described in the literature. Cytogenetic study revealed an abnormal karyotype, and comparative genomic hybridization analysis showed regional amplifications of chromosomes 3 and 12 and a possible loss of 22q13.3-qter. The significance of these cytogenetic findings is unclear but may suggest a neoplastic process in the pathogenesis of esophageal giant fibrovascular polyps.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2011.04.022