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Case Reports
. 2021 Sep 20;14(3):1347-1352.
doi: 10.1159/000515779. eCollection 2021 Sep-Dec.

Maffucci Syndrome with Intrahepatic Cholangiocarcinoma: A Case Report

Ryoichiro Kobayashi  1 , Akira Shimizu  1 , Koji Kubota  1 , Tsuyoshi Notake  1 , Shinsuke Sugenoya  1 , Kiyotaka Hosoda  1 , Hikaru Hayashi  1 , Koya Yasukawa  1 , Yayoi Satoh  2 , Mai Iwaya  2 , Kenji Sano  3 , Yuji Soejima  1
Affiliations
Case Reports

Maffucci Syndrome with Intrahepatic Cholangiocarcinoma: A Case Report

Ryoichiro Kobayashi et al. Case Rep Oncol. .

Abstract

Maffucci syndrome is characterized by multiple hemangiomas and enchondromas. Somatic mutations in IDH1 and IDH2 are associated with the development of Maffucci syndrome, and these patients develop various malignant nonskeletal tumors in addition to malignant skeletal tumors. We report a case of Maffucci syndrome with IDH1 mutation complicated by intrahepatic cholangiocarcinoma. The patient was a 35-year-old woman who was diagnosed with Maffucci syndrome in childhood. She was referred to our department because of a large hepatic tumor. Serum carcinoembryonic antigen was 27.1 ng/mL upon laboratory examination. CT scanning showed a large low-density tumor (90 × 70 mm) in the right lobe of the liver, and MRI revealed a multilobulated and fibrous tumor, which was observed as high signal intensity on T2- and diffusion-weighted images and low signal intensity on T1-weighted images. Positron emission tomography-CT revealed peritoneal dissemination and cancer spread to the muscles of the back. Finally, she was diagnosed with intrahepatic cholangiocarcinoma with dissemination and metastases. We performed a tumor biopsy to determine a treatment plan for chemotherapy. Sanger sequencing of a tumor biopsy identified a mutation in IDH1 at c.394C>T (R132C), but the patient died of rapid cancer progression before the chemotherapy could be initiated. Although rare, malignant tumors can develop in patients with Maffucci syndrome; therefore, it is necessary to monitor these tumors through careful and periodic observation.

Keywords: Cholangiocarcinoma; Isocitrate dehydrogenase 1; Maffucci syndrome.

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Conflict of interest statement

The authors have no conflicts of interest directly relevant to the content of this article.

Figures

Fig. 1
Fig. 1
a CT showing a large low-density tumor (90 × 70 mm) in the right lobe of the liver. b, c MRI showing a multilobulated and fibrous tumor, which was observed as high signal intensity on T2- (b) and diffusion-weighted (c) images.
Fig. 2
Fig. 2
Positron emission tomography-CT showing abnormal uptake in the tumor (a) and disseminations that had spread to muscles (b, c).
Fig. 3
Fig. 3
Histopathological examination showed atypical glands infiltration with desmoplastic reaction (a, b). These glands were focally immunoreactive for cytokeratin 7 (c, d).
Fig. 4
Fig. 4
IDH1 gene analysis was performed by Sanger sequencing in paraffin-embedded tumor tissue, and heterozygous IDH1 mutation with c.394C>T Arg132Cys (R132C) was detected. IDH1, isocitrate dehydrogenase 1.
See this image and copyright information in PMC

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