Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy
<p>Abstract</p> <p>Background</p> <p>Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome that is commonly associated with a germline mutation in the tumor suppressor gene <it>p53</it>. Loss of p53 results in increased expression of CD44...
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doaj-fe16e516296640df9ebc709c9f003eee2020-11-24T21:17:41ZengBMCBMC Cancer1471-24072012-10-0112144410.1186/1471-2407-12-444Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapyYoshida Go JFuchimoto YasushiOsumi TomooShimada HiroyukiHosaka SeiichiMorioka HideoMukai MakioMasugi YoheiSakamoto MichiieKuroda Tatsuo<p>Abstract</p> <p>Background</p> <p>Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome that is commonly associated with a germline mutation in the tumor suppressor gene <it>p53</it>. Loss of p53 results in increased expression of CD44, a cancer stem cell (CSC) marker, which is involved in the scavenging of reactive oxygen species (ROS). Here, we report a change in the expression of a CD44 variant isoform (CD44v8-10) in an 8-year-old female LFS patient with osteosarcoma and atypical liver cancer after chemotherapy.</p> <p>Case presentation</p> <p>The patient visited a clinic with a chief complaint of chronic pain in a bruise on her right knee. Magnetic resonance imaging (MRI) raised the possibility of a bone malignancy. Biochemical testing also revealed significantly elevated levels of AFP, which strongly suggested the existence of a primary malignancy in the liver. MRI imaging showed the simultaneous development of osteosarcoma and liver cancer, both of which were confirmed upon biopsy. Combined therapy with surgical resection after chemotherapy was successful in this patient. Regardless of the absence of a familial history of hereditary cancer, a germline mutation in <it>p53</it> was identified (a missense mutation defined as c.722 C>T, p.Ser241Phe). To better understand the cancer progression and response to treatment, immunohistochemical (IHC) analysis of biopsy specimens obtained before and after chemotherapy was performed using a specific antibody against CD44v8-10.</p> <p>Conclusion</p> <p>This case demonstrates the ectopic up-regulation of CD44v8-10 in a biopsy sample obtained after cytotoxic chemotherapy, which confers high levels of oxidative stress on cancer cells. Because the alternative splicing of CD44 is tightly regulated epigenetically, it is possible that micro-environmental stress resulting from chemotherapy caused the ectopic induction of CD44v8-10 <it>in vivo</it>.</p> http://www.biomedcentral.com/1471-2407/12/444Li-Fraumeni syndrome (LFS)cancer stem cells (CSCs)CD44 variant isoforms |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yoshida Go J Fuchimoto Yasushi Osumi Tomoo Shimada Hiroyuki Hosaka Seiichi Morioka Hideo Mukai Makio Masugi Yohei Sakamoto Michiie Kuroda Tatsuo |
spellingShingle |
Yoshida Go J Fuchimoto Yasushi Osumi Tomoo Shimada Hiroyuki Hosaka Seiichi Morioka Hideo Mukai Makio Masugi Yohei Sakamoto Michiie Kuroda Tatsuo Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy BMC Cancer Li-Fraumeni syndrome (LFS) cancer stem cells (CSCs) CD44 variant isoforms |
author_facet |
Yoshida Go J Fuchimoto Yasushi Osumi Tomoo Shimada Hiroyuki Hosaka Seiichi Morioka Hideo Mukai Makio Masugi Yohei Sakamoto Michiie Kuroda Tatsuo |
author_sort |
Yoshida Go J |
title |
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy |
title_short |
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy |
title_full |
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy |
title_fullStr |
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy |
title_full_unstemmed |
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy |
title_sort |
li-fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a cd44 variant isoform after chemotherapy |
publisher |
BMC |
series |
BMC Cancer |
issn |
1471-2407 |
publishDate |
2012-10-01 |
description |
<p>Abstract</p> <p>Background</p> <p>Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome that is commonly associated with a germline mutation in the tumor suppressor gene <it>p53</it>. Loss of p53 results in increased expression of CD44, a cancer stem cell (CSC) marker, which is involved in the scavenging of reactive oxygen species (ROS). Here, we report a change in the expression of a CD44 variant isoform (CD44v8-10) in an 8-year-old female LFS patient with osteosarcoma and atypical liver cancer after chemotherapy.</p> <p>Case presentation</p> <p>The patient visited a clinic with a chief complaint of chronic pain in a bruise on her right knee. Magnetic resonance imaging (MRI) raised the possibility of a bone malignancy. Biochemical testing also revealed significantly elevated levels of AFP, which strongly suggested the existence of a primary malignancy in the liver. MRI imaging showed the simultaneous development of osteosarcoma and liver cancer, both of which were confirmed upon biopsy. Combined therapy with surgical resection after chemotherapy was successful in this patient. Regardless of the absence of a familial history of hereditary cancer, a germline mutation in <it>p53</it> was identified (a missense mutation defined as c.722 C>T, p.Ser241Phe). To better understand the cancer progression and response to treatment, immunohistochemical (IHC) analysis of biopsy specimens obtained before and after chemotherapy was performed using a specific antibody against CD44v8-10.</p> <p>Conclusion</p> <p>This case demonstrates the ectopic up-regulation of CD44v8-10 in a biopsy sample obtained after cytotoxic chemotherapy, which confers high levels of oxidative stress on cancer cells. Because the alternative splicing of CD44 is tightly regulated epigenetically, it is possible that micro-environmental stress resulting from chemotherapy caused the ectopic induction of CD44v8-10 <it>in vivo</it>.</p> |
topic |
Li-Fraumeni syndrome (LFS) cancer stem cells (CSCs) CD44 variant isoforms |
url |
http://www.biomedcentral.com/1471-2407/12/444 |
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