دورية أكاديمية
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.
| العنوان: | 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. |
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| المؤلفون: | Gad MM; Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA., Langevin AM; Division of Hematology-Oncology, Department of Pediatrics, UT Health San Antonio, San Antonio, TX, USA., Sugalski AJ; Division of Hematology-Oncology, Department of Pediatrics, UT Health San Antonio, San Antonio, TX, USA., Tomlinson GE; Division of Hematology-Oncology, Department of Pediatrics, UT Health San Antonio, San Antonio, TX, USA. tomlinsong@uthscsa.edu.; Greehey Children's Cancer Research Institute, UT Health San Antonio, San Antonio, TX, USA. tomlinsong@uthscsa.edu. |
| المصدر: | Familial cancer [Fam Cancer] 2020 Oct; Vol. 19 (4), pp. 311-314. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Dordrecht : Springer Original Publication: Dordrecht ; Boston : Kluwer Academic Publishers, c2001- |
| مواضيع طبية MeSH: | Genes, APC* , Siblings*, Adenomatous Polyposis Coli/*genetics , Fibromatosis, Aggressive/*genetics , Thoracic Neoplasms/*genetics, Adenomatous Polyposis Coli/complications ; Adolescent ; Child, Preschool ; Combined Modality Therapy/methods ; Fatal Outcome ; Female ; Fibromatosis, Aggressive/pathology ; Fibromatosis, Aggressive/therapy ; Head and Neck Neoplasms/genetics ; Head and Neck Neoplasms/pathology ; Head and Neck Neoplasms/therapy ; Humans ; Mutation ; Neoplasms, Multiple Primary/genetics ; Neoplasms, Multiple Primary/pathology ; Pedigree ; Pregnancy ; Pregnancy Complications, Neoplastic/genetics ; Pregnancy Complications, Neoplastic/pathology ; Risk Factors ; Thoracic Neoplasms/pathology ; Thoracic Neoplasms/therapy ; Young Adult |
| مستخلص: | 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. |
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| معلومات مُعتمدة: | P30 CA054174 United States CA NCI NIH HHS; 5P30CA054174-21 United States CA NCI NIH HHS |
| فهرسة مساهمة: | Keywords: Adolescence; Desmoid; FAP; Familial adenomatous polyposis |
| تواريخ الأحداث: | Date Created: 20200414 Date Completed: 20210524 Latest Revision: 20211002 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC8098859 |
| DOI: | 10.1007/s10689-020-00177-2 |
| PMID: | 32281046 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1573-7292 |
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| DOI: | 10.1007/s10689-020-00177-2 |