Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female

Brian P. Tullius, Suma Shankar, Stacey Cole, Vivien Triano, Swaroop Aradhya, Eric C Huang, Thomas Ray Sanchez, Anjali S Pawar

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Abstract

Growing teratoma syndrome (GTS) is a condition in which mature teratoma with negative tumor markers arises at the site of a treated malignant germ cell tumor. Pathogenic variants in PTEN have been reported to cause autosomal dominant cancer predisposition syndromes and are associated with germ cell tumors. We report the association of a novel heterozygous pathogenic variant in PTEN and very early onset ovarian germ cell tumor complicated by GTS as well as overgrowth syndrome. This marks the youngest reported patient to have developed GTS following treatment of her primary malignant ovarian germ cell tumor.

Original languageEnglish (US)
Article numbere27788
JournalPediatric Blood and Cancer
DOIs
StatePublished - Jan 1 2019

Fingerprint

Germ Cell and Embryonal Neoplasms
Teratoma
Mutation
Genes
Tumor Biomarkers
Neoplasms
Therapeutics

Keywords

  • growing teratoma syndrome
  • immature ovarian germ cell tumor
  • pRB expression
  • preadolescent
  • PTEN mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

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title = "Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female",
abstract = "Growing teratoma syndrome (GTS) is a condition in which mature teratoma with negative tumor markers arises at the site of a treated malignant germ cell tumor. Pathogenic variants in PTEN have been reported to cause autosomal dominant cancer predisposition syndromes and are associated with germ cell tumors. We report the association of a novel heterozygous pathogenic variant in PTEN and very early onset ovarian germ cell tumor complicated by GTS as well as overgrowth syndrome. This marks the youngest reported patient to have developed GTS following treatment of her primary malignant ovarian germ cell tumor.",
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AU - Tullius, Brian P.

AU - Shankar, Suma

AU - Cole, Stacey

AU - Triano, Vivien

AU - Aradhya, Swaroop

AU - Huang, Eric C

AU - Sanchez, Thomas Ray

AU - Pawar, Anjali S

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N2 - Growing teratoma syndrome (GTS) is a condition in which mature teratoma with negative tumor markers arises at the site of a treated malignant germ cell tumor. Pathogenic variants in PTEN have been reported to cause autosomal dominant cancer predisposition syndromes and are associated with germ cell tumors. We report the association of a novel heterozygous pathogenic variant in PTEN and very early onset ovarian germ cell tumor complicated by GTS as well as overgrowth syndrome. This marks the youngest reported patient to have developed GTS following treatment of her primary malignant ovarian germ cell tumor.

AB - Growing teratoma syndrome (GTS) is a condition in which mature teratoma with negative tumor markers arises at the site of a treated malignant germ cell tumor. Pathogenic variants in PTEN have been reported to cause autosomal dominant cancer predisposition syndromes and are associated with germ cell tumors. We report the association of a novel heterozygous pathogenic variant in PTEN and very early onset ovarian germ cell tumor complicated by GTS as well as overgrowth syndrome. This marks the youngest reported patient to have developed GTS following treatment of her primary malignant ovarian germ cell tumor.

KW - growing teratoma syndrome

KW - immature ovarian germ cell tumor

KW - pRB expression

KW - preadolescent

KW - PTEN mutation

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