Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review
BackgroundHeterotaxy polysplenia syndrome is a rare condition characterized by multiple abnormal spleens and irregular placement of various organs. Some patients have been documented as developing various types of cancers, although the association with heterotaxy polysplenia syndrome remains uncerta...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1537227/full |
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| author | Ziye Chen Ziye Chen Yu-Ann Chen Yu-Ann Chen Xuedong Wang Wenyan Song Wenyan Song Yadi Geng Yadi Geng Pengfei Wang Siming Kong Jiahong Dong Jiahong Dong Hui Bai Yunfang Wang Yunfang Wang Yunfang Wang Yunfang Wang |
| author_facet | Ziye Chen Ziye Chen Yu-Ann Chen Yu-Ann Chen Xuedong Wang Wenyan Song Wenyan Song Yadi Geng Yadi Geng Pengfei Wang Siming Kong Jiahong Dong Jiahong Dong Hui Bai Yunfang Wang Yunfang Wang Yunfang Wang Yunfang Wang |
| author_sort | Ziye Chen |
| collection | DOAJ |
| description | BackgroundHeterotaxy polysplenia syndrome is a rare condition characterized by multiple abnormal spleens and irregular placement of various organs. Some patients have been documented as developing various types of cancers, although the association with heterotaxy polysplenia syndrome remains uncertain. Most cases of heterotaxy polysplenia syndrome are isolated anomalies, but there are rare instances where it appears in closely related individuals, suggesting possible genetic inheritance.Case presentationWe report the case of a 36-year-old woman with heterotaxy polysplenia syndrome, who presented with choledocholithiasis, thickening and stenosis of the hepatic portal bile duct wall, duodenal atresia, and congenital pancreatic insufficiency. Following recovery from a COVID-19 infection, the patient incidentally identified a mass in the upper abdomen. Pathological examination revealed the mass to be a poorly differentiated adenocarcinoma of pancreaticobiliary origin. Additionally, a familial pattern of situs inversus and breast cancer was observed. In this report, we also provide a comprehensive literature review to enhance the understanding of heterotaxy polysplenia syndrome and to explore the potential association between this condition and tumor development.ConclusionOur report contributes to the current knowledge about heterotaxy polysplenia syndrome and its potential association with tumors. Effective integration of clinical diagnostic information, exploration of precise means of diagnosing and treating rare diseases, and incorporation of the patient's familial background are promising for future research and clinical interventions. |
| format | Article |
| id | doaj-art-e89a95833726463cacf1b9e38a3721dd |
| institution | OA Journals |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj-art-e89a95833726463cacf1b9e38a3721dd2025-08-20T02:05:17ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-06-011210.3389/fmed.2025.15372271537227Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature reviewZiye Chen0Ziye Chen1Yu-Ann Chen2Yu-Ann Chen3Xuedong Wang4Wenyan Song5Wenyan Song6Yadi Geng7Yadi Geng8Pengfei Wang9Siming Kong10Jiahong Dong11Jiahong Dong12Hui Bai13Yunfang Wang14Yunfang Wang15Yunfang Wang16Yunfang Wang17School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Hepato-Pancreato-Biliary Center, Tsinghua University, Beijing, ChinaCenter for Clinical and Translational Science, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaPrecision Hepatobiliary Center, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaHepatopancreatobiliary Center, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaHepatopancreatobiliary Center, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaCenter for Clinical and Translational Science, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaFaculty of Environment and Life, Beijing University of Technology, Beijing, ChinaCenter for Clinical and Translational Science, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaFaculty of Environment and Life, Beijing University of Technology, Beijing, ChinaHepatopancreatobiliary Center, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaCenter for Clinical and Translational Science, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaHepatopancreatobiliary Center, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaInstitute for Organ Transplant and Bionic Medicine, Tsinghua University, Beijing, ChinaCenter for Clinical and Translational Science, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaSchool of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Hepato-Pancreato-Biliary Center, Tsinghua University, Beijing, ChinaCenter for Clinical and Translational Science, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaPrecision Hepatobiliary Center, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaHepatopancreatobiliary Center, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, ChinaBackgroundHeterotaxy polysplenia syndrome is a rare condition characterized by multiple abnormal spleens and irregular placement of various organs. Some patients have been documented as developing various types of cancers, although the association with heterotaxy polysplenia syndrome remains uncertain. Most cases of heterotaxy polysplenia syndrome are isolated anomalies, but there are rare instances where it appears in closely related individuals, suggesting possible genetic inheritance.Case presentationWe report the case of a 36-year-old woman with heterotaxy polysplenia syndrome, who presented with choledocholithiasis, thickening and stenosis of the hepatic portal bile duct wall, duodenal atresia, and congenital pancreatic insufficiency. Following recovery from a COVID-19 infection, the patient incidentally identified a mass in the upper abdomen. Pathological examination revealed the mass to be a poorly differentiated adenocarcinoma of pancreaticobiliary origin. Additionally, a familial pattern of situs inversus and breast cancer was observed. In this report, we also provide a comprehensive literature review to enhance the understanding of heterotaxy polysplenia syndrome and to explore the potential association between this condition and tumor development.ConclusionOur report contributes to the current knowledge about heterotaxy polysplenia syndrome and its potential association with tumors. Effective integration of clinical diagnostic information, exploration of precise means of diagnosing and treating rare diseases, and incorporation of the patient's familial background are promising for future research and clinical interventions.https://www.frontiersin.org/articles/10.3389/fmed.2025.1537227/fullheterotaxy polysplenia syndromecongenital pancreatic insufficiencyCOVID-19duodenal atresiacholangiopancreatic cancer |
| spellingShingle | Ziye Chen Ziye Chen Yu-Ann Chen Yu-Ann Chen Xuedong Wang Wenyan Song Wenyan Song Yadi Geng Yadi Geng Pengfei Wang Siming Kong Jiahong Dong Jiahong Dong Hui Bai Yunfang Wang Yunfang Wang Yunfang Wang Yunfang Wang Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review Frontiers in Medicine heterotaxy polysplenia syndrome congenital pancreatic insufficiency COVID-19 duodenal atresia cholangiopancreatic cancer |
| title | Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review |
| title_full | Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review |
| title_fullStr | Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review |
| title_full_unstemmed | Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review |
| title_short | Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review |
| title_sort | heterotaxy polysplenia syndrome with cholangiopancreatic cancer a case report and literature review |
| topic | heterotaxy polysplenia syndrome congenital pancreatic insufficiency COVID-19 duodenal atresia cholangiopancreatic cancer |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1537227/full |
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