Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Patrick Kiessling, Eric Dowling, Yajue Huang, Mai Lan Ho, Karthik Balakrishnan, Brenda J Weigel, W. Edward Highsmith, Zhiyv Niu, Lisa A Schimmenti

Research output: Contribution to journalArticle

Abstract

Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Sequencing of the APC gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.

Original languageEnglish (US)
JournalCold Spring Harbor molecular case studies
Volume5
Issue number2
DOIs
StatePublished - Apr 1 2019

Fingerprint

Gardner Syndrome
Phenotype
Tooth Abnormalities
APC Genes
Osteoma
Aggressive Fibromatosis
Epidermal Cyst
Adenomatous Polyposis Coli
Forehead
Fibroma
Heel
Cheek
Colonoscopy
Knee
Neoplasms
Therapeutics

Keywords

  • desmoid tumors
  • facial neoplasm
  • intestinal polyp
  • neoplasm of the gastrointestinal tract
  • neoplasm of the large intestine

Cite this

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup. / Kiessling, Patrick; Dowling, Eric; Huang, Yajue; Ho, Mai Lan; Balakrishnan, Karthik; Weigel, Brenda J; Highsmith, W. Edward; Niu, Zhiyv; Schimmenti, Lisa A.

In: Cold Spring Harbor molecular case studies, Vol. 5, No. 2, 01.04.2019.

Research output: Contribution to journalArticle

Kiessling, Patrick ; Dowling, Eric ; Huang, Yajue ; Ho, Mai Lan ; Balakrishnan, Karthik ; Weigel, Brenda J ; Highsmith, W. Edward ; Niu, Zhiyv ; Schimmenti, Lisa A. / Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup. In: Cold Spring Harbor molecular case studies. 2019 ; Vol. 5, No. 2.
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