Rare, Unusual Causality of Acute Appendicitis
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CASE REPORT
Rare, Unusual Causality of Acute Appendicitis Katleen K. Janssens 1
&
Dorien Mannens 2 & Sabine Declercq 3 & Menno Maes 4 & Steven M. Van Outryve 5
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Introduction The Li-Fraumeni syndrome (LFS, Orphacode 524, OMIM 151623) is a rare tumor predisposition syndrome with an autosomal dominant inheritance pattern. The prevalence ranges from 1/10,000 to 1/25,000 in the UK and 1/20,000 in the USA [1]. Doctors Frederick Li and Joseph Fraumeni from the National Cancer Institute first reported this syndrome in 1969 [2, 3]. This tumor predisposition syndrome is caused by a germline pathogenic variant in the tumor suppressor gene TP53 located on chromosome 17p13.1. In the absence of normal activated p53, cells containing damaged DNA can survive and proliferate, which makes them more prone to malignant transformation [4]. The lifetime risk of cancer in individuals with LFS is ≥ 70% for men and ≥ 90% for women [5, 6]. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft tissue sarcomas [6]. However, LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, and cancers of the head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid [5]. Since the recognition of the LFS in 1969 and the identification of the responsible gene in 1990, our understanding of LFS has evolved. Nowadays, it is widely accepted that cancers related to germline TP53 pathogenic variants can Katleen K. Janssens and Dorien Mannens contributed equally to this work. * Steven M. Van Outryve [email protected] 1
Internal Medicine, GZA Sint-Vincentius Hospital, Antwerp, Belgium
2
University of Leuven, Leuven, Belgium
3
Histopathology, GZA Sint-Vincentius Hospital, Antwerp, Belgium
4
Radiology, GZA Sint-Vincentius Hospital, Antwerp, Belgium
5
Gastroenterology, GZA Sint-Vincentius Hospital, Sint-Vincentiusstraat 20, 2018 Antwerp, Belgium
present in various ways and germline alterations are now mainly detected among children with cancers or young females with breast cancer, often without familial history of cancer. These new insights recently led to the expansion of LFS to the wider “heritable TP53-related cancer syndrome” and the publication of new guidelines by the European Reference Network for rare genetic tumor risk syndromes (GENTURIS) [7].We report a case of an acute appendicitis due to metastatic prostate cancer in a LFS patient and provide a short review of literature concerning this subject.
Case Report A 48-year-old male was referred to the emergency department with constant spasmodic pain in the peri-umbilical region. The patient complained of anorexia and had experienced hard stools during the last weeks. Other gastrointestinal symptoms like nausea or vomiting were absent, and nor was there dysuria or hematuria. He had a known medical histor
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