Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for incre
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SHORT COMMUNICATION
Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs Mohamed M. Gad1 · Anne‑Marie Langevin2 · Aaron J. Sugalski2 · Gail E. Tomlinson2,3
© Springer Nature B.V. 2020
Abstract Desmoid tumors are a manifestation of familial adenomatous polyposis (FAP), associated with mutation of the APC gene. Although considered benign tumors, desmoids can be aggressive and cause considerable morbidity. Known risk factors for desmoid tumor growth include location of mutations within the APC gene, family history of desmoid tumors, previous surgery, female gender, and pregnancy. Desmoids occur at diverse sites, commonly within the abdomen or at sites of previous surgery; thoracic desmoids are relatively uncommon. Reported here is a highly desmoid tumor-prone FAP family with a truncating mutation in the APC gene at codon 1550 (c.4648G>T) in which female siblings developed remarkably similar thoracic desmoids with highly aggressive tumor behavior during the onset of puberty, throughout adolescence, and in one sibling during and following pregnancy. Both siblings had a fatal outcome. This case underscores the potential for aggressive behavior of desmoids during adolescence and the need for close vigilance during the adolescent and young adult (AYA) age range in desmoid-prone FAP kindreds. Keywords Desmoid · Familial adenomatous polyposis · FAP · Adolescence
Introduction Familial adenomatous polyposis (FAP) is an autosomal dominant condition associated with the onset of colorectal polyps in adolescence and without surgical intervention, a nearly universal later development of colorectal cancer [1]. Desmoid tumors are a manifestation of FAP, affecting 10–15% of patients with FAP and are fibromatosis that can affect abdominal or extra-abdominal structures. Although considered benign because they lack metastatic potential, they may be associated with a significant increased morbidity due to local aggressiveness [2]. The management of desmoids is challenging, although multiple approaches have * Gail E. Tomlinson [email protected] 1
Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA
2
Division of Hematology‑Oncology, Department of Pediatrics, UT Health San Antonio, San Antonio, TX, USA
3
Greehey Children’s Cancer Research Institute, UT Health San Antonio, San Antonio, TX, USA
been taken with additional targeted therapies under development [3]. A family history of FAP, especially when noted to have cases of desmoid tumors, should raise the awareness of risk of desmoid tumors [4]. However the diagnosis and implications of FAP, particularly in children is often delayed, due to an incomplete family history, lack of physical stigmata, and the rarity of the condition leading to a low level of suspicion by providers. Desmoids may also be the first presentation of FAP in a family and may represent de novo mutation. Desmoids often are observed to develop after surger
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