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Impact of vascular anomalies on the PTEN phenotype in children and young adults
Author(s) -
Gurunathan Arun,
Ricci Kiersten,
Iacobas Ionela,
Rednam Surya P.,
Wusik Katie,
Fei Lin,
Hammilll Adrienne M.
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28258
Subject(s) - pten , tensin , medicine , phenotype , germline , oncology , cowden syndrome , germline mutation , retrospective cohort study , cohort , pathology , mutation , genetics , gene , pi3k/akt/mtor pathway , biology , apoptosis
Germline PTEN (phosphatase and tensin homolog) mutations lead to inappropriate cell survival and growth, and a predisposition to multiple cancers. Some patients also have vascular anomalies (VAs), and it is unclear whether these patients have different phenotypes or oncologic risks. We conducted a two‐institution retrospective cohort study to better understand the phenotypes of children and young adults with PTEN mutations, and to compare individuals with VA to those without. Almost half of the patients had thyroid tumors and nearly one quarter developed gastrointestinal tumors before 30 years of age. The presence of VA was positively associated with bulky overgrowth but did not appear to modify oncologic risk.