A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity
BackgroundPancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such as CTNNB1 mutation. However, the molecular abnormalities in adult pancreatoblastoma are not well known.Case PresentationAn...
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doaj-55663f894a5e4d43aaa23a60f32ab8cd2021-09-03T13:06:28ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2021-08-011110.3389/fonc.2021.725290725290A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic HeterogeneityYamato Suemitsu0Yusuke Ono1Yusuke Ono2Yusuke Mizukami3Yusuke Mizukami4Juanjuan Ye5Keiko Yamakawa6Takeshi Takamoto7Yuko Nakano-Narusawa8Yuri Mukai9Manabu Takamatsu10Atsuko Nakazawa11Mari Mino-Kenudson12Toshio Kumasaka13Yoko Matsuda14Department of Pathology, Japanese Red Cross Medical Center, Shibuya, JapanCancer Genetics, Department of Medicine, Asahikawa Medical University, Asahikawa, JapanInstitute of Biomedical Research, Sapporo-Higashi Tokushukai Hospital, Sapporo, JapanCancer Genetics, Department of Medicine, Asahikawa Medical University, Asahikawa, JapanInstitute of Biomedical Research, Sapporo-Higashi Tokushukai Hospital, Sapporo, JapanOncology Pathology, Department of Pathology and Host-Defense, Faculty of Medicine, Kagawa University, Kita-gun, JapanOncology Pathology, Department of Pathology and Host-Defense, Faculty of Medicine, Kagawa University, Kita-gun, JapanDepartment of Hepatobiliary and Pancreatic Surgery, National Cancer Center Hospital, Chuo-ku, JapanOncology Pathology, Department of Pathology and Host-Defense, Faculty of Medicine, Kagawa University, Kita-gun, JapanOncology Pathology, Department of Pathology and Host-Defense, Faculty of Medicine, Kagawa University, Kita-gun, JapanClinicopathology Center, Cancer Institute Hospital of JFCR, Koto-ku, JapanDivision of Pathology, Saitama Children’s Medical Center, Saitama, JapanDepartment of Pathology, Massachusetts General Hospital, Boston, MA, United StatesDepartment of Pathology, Japanese Red Cross Medical Center, Shibuya, JapanOncology Pathology, Department of Pathology and Host-Defense, Faculty of Medicine, Kagawa University, Kita-gun, JapanBackgroundPancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such as CTNNB1 mutation. However, the molecular abnormalities in adult pancreatoblastoma are not well known.Case PresentationAn elderly man, who underwent elective distal pancreatectomy and splenectomy, was referred to our hospital with a mass in the tail of the pancreas. Histologically, the lesion revealed proliferation of clear, basophilic, and cartilaginous tumor cells with lymphatic metastasis. Each of the morphologically distinct tumor components showed different immunohistochemical patterns, indicating heterogeneous differentiation, including epithelial (both acinar and ductal), mesenchymal, and neuroendocrine differentiation. All tumor components showed nuclear expression of β-catenin and cyclin D1. Per next-generation sequencing (NGS), the clear and basophilic tumor cells shared mutations in APC, GRM8, LAMP1, and AKA9. Among the mutations, APC, c.1816_1817insA showed the highest frequency in both cell types, indicating that APC mutation was a driver mutation of the tumor. A diagnosis of PB was rendered.SummaryIn conclusion, the clear and basophilic cells of the tumor were supposedly derived from the same clone and subsequently acquired additional mutations. This is the first report of clonal evolution in pancreatoblastoma.https://www.frontiersin.org/articles/10.3389/fonc.2021.725290/fullpancraetoblastomabasophilic cellsclear cellsAPCcartilaginous differentiationsolid pseudopaillary neoplasm of the pancreas |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yamato Suemitsu Yusuke Ono Yusuke Ono Yusuke Mizukami Yusuke Mizukami Juanjuan Ye Keiko Yamakawa Takeshi Takamoto Yuko Nakano-Narusawa Yuri Mukai Manabu Takamatsu Atsuko Nakazawa Mari Mino-Kenudson Toshio Kumasaka Yoko Matsuda |
spellingShingle |
Yamato Suemitsu Yusuke Ono Yusuke Ono Yusuke Mizukami Yusuke Mizukami Juanjuan Ye Keiko Yamakawa Takeshi Takamoto Yuko Nakano-Narusawa Yuri Mukai Manabu Takamatsu Atsuko Nakazawa Mari Mino-Kenudson Toshio Kumasaka Yoko Matsuda A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity Frontiers in Oncology pancraetoblastoma basophilic cells clear cells APC cartilaginous differentiation solid pseudopaillary neoplasm of the pancreas |
author_facet |
Yamato Suemitsu Yusuke Ono Yusuke Ono Yusuke Mizukami Yusuke Mizukami Juanjuan Ye Keiko Yamakawa Takeshi Takamoto Yuko Nakano-Narusawa Yuri Mukai Manabu Takamatsu Atsuko Nakazawa Mari Mino-Kenudson Toshio Kumasaka Yoko Matsuda |
author_sort |
Yamato Suemitsu |
title |
A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity |
title_short |
A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity |
title_full |
A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity |
title_fullStr |
A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity |
title_full_unstemmed |
A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity |
title_sort |
case of adult pancreatoblastoma with novel apc mutation and genetic heterogeneity |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Oncology |
issn |
2234-943X |
publishDate |
2021-08-01 |
description |
BackgroundPancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such as CTNNB1 mutation. However, the molecular abnormalities in adult pancreatoblastoma are not well known.Case PresentationAn elderly man, who underwent elective distal pancreatectomy and splenectomy, was referred to our hospital with a mass in the tail of the pancreas. Histologically, the lesion revealed proliferation of clear, basophilic, and cartilaginous tumor cells with lymphatic metastasis. Each of the morphologically distinct tumor components showed different immunohistochemical patterns, indicating heterogeneous differentiation, including epithelial (both acinar and ductal), mesenchymal, and neuroendocrine differentiation. All tumor components showed nuclear expression of β-catenin and cyclin D1. Per next-generation sequencing (NGS), the clear and basophilic tumor cells shared mutations in APC, GRM8, LAMP1, and AKA9. Among the mutations, APC, c.1816_1817insA showed the highest frequency in both cell types, indicating that APC mutation was a driver mutation of the tumor. A diagnosis of PB was rendered.SummaryIn conclusion, the clear and basophilic cells of the tumor were supposedly derived from the same clone and subsequently acquired additional mutations. This is the first report of clonal evolution in pancreatoblastoma. |
topic |
pancraetoblastoma basophilic cells clear cells APC cartilaginous differentiation solid pseudopaillary neoplasm of the pancreas |
url |
https://www.frontiersin.org/articles/10.3389/fonc.2021.725290/full |
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