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Cancers
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Research Update on Pheochromocytoma and Paraganglioma
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Research Update on Pheochromocytoma and Paraganglioma

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".

Deadline for manuscript submissions: closed (1 August 2021) | Viewed by 10856

Special Issue Editor

Dr. Noriko Kimura

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Guest Editor
Department of Diagnostic Pathology/Clinical Research, Pathology Division, National Hospital Organization, Hakodate Hospital, Hakodate, Japan
Interests: Pheochromocyoma; Paraganglioma; Hereditary; Pediatric; Non-functioning; Gene analysis; Metastasis; Treatment; Biochemistry; Experimental

Special Issue Information

Dear Colleagues,

Pheochromocytoma (PCC) and paraganglioma (PGL) are tumors of the adrenal medulla and extra-adrenal paraganglia, respectively. PGLs are divided into sympathetic PGLs and parasympathetic PGLs. PPGLs have long been called 10% tumors, and studies have focused on tumor location (adrenal or extra-adrenal), age (adult or children), metastatic status (benign or malignant), multiplicity, and pathology (hereditary or syndromic). Recent progress based on clinicopathologic data with long follow-up time, extensive gene analysis, and newly developed chemical and metabolomics analysis have revealed the novel faces of these tumors. At present, all PPGLs are recognized as malignant tumors with metastatic potential and subject to risk stratification. Relationships between types of gene mutation and metastasis, tumor location, patient age, and sex have been comprehensively clarified through metabolomics analysis. The analysis of catecholamine metabolites in the blood is useful for screening patients with PPGL. How to treat patients with PPGL by surgical methods with preoperative embolization, radiation, or laser operation for head and neck PGL should be discussed in terms of patient prognosis and quality of life. How to treat patients with extensive metastases and rapid progression has not yet been solved. A multidisciplinary approach is necessary for determining handling of patients with PPGL. Herein, any papers on this topic, e.g., diagnosis, gene analysis, biochemical, treatments, tumor cell line, animal model, and epidemiologic research are welcomed.

Dr. Noriko Kimura
Guest Editor

Manuscript Submission Information

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Keywords

  • pheochromocytoma
  • paraganglioma
  • hereditary
  • pediatric
  • non-functioning
  • gene analysis
  • metastasis
  • treatment
  • biochemistry
  • experimental

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Published Papers (3 papers)

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Research

10 pages, 998 KiB  
Article
The Influence of Young Age on Difficulties in the Surgical Resection of Carotid Body Tumors
by Kartsunori Katagiri, Kiyoto Shiga, Aya Ikeda, Daisuke Saito, Shin-ichi Oikawa, Kodai Tsuchida, Jun Miyaguchi, Takahiro Kusaka, Akio Tamura, Manabu Nakayama, Mitsuru Izumisawa, Kenji Yoshida, Kuniaki Ogasawara and Fumiaki Takahashi
Cancers 2021, 13(18), 4565; https://doi.org/10.3390/cancers13184565 - 11 Sep 2021
Cited by 5 | Viewed by 1856
Abstract
This study evaluated patient characteristics that affect the complexity and difficulties of performing surgery to resect carotid body tumors (CBTs). We retrospectively reviewed the medical records of 20 patients with 21 CBTs who were enrolled in the study. The median patient age was [...] Read more.
This study evaluated patient characteristics that affect the complexity and difficulties of performing surgery to resect carotid body tumors (CBTs). We retrospectively reviewed the medical records of 20 patients with 21 CBTs who were enrolled in the study. The median patient age was 46 years and the mean tumor diameter was 37.6 mm. The mean blood loss and operative time were 40.3 mL and 183 min, respectively. Four patients underwent resection of the carotid artery followed by reconstruction. These four patients were between 18 to 23 years of age at the time of surgery. The mean blood loss and operative time in these patients were 166 mL and 394 min, respectively, which differed significantly from those of older patients. Therefore, young age influenced the difficulties faced in surgical resection of CBT, with an increased risk of blood loss and carotid artery resection. Full article
(This article belongs to the Special Issue Research Update on Pheochromocytoma and Paraganglioma)
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15 pages, 857 KiB  
Article
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
by Masato Yonamine, Koichiro Wasano, Yuichi Aita, Takehito Sugasawa, Katsutoshi Takahashi, Yasushi Kawakami, Hitoshi Shimano, Hiroyuki Nishiyama, Hisato Hara, Mitsuhide Naruse, Takahiro Okamoto, Tadashi Matsuda, Shinji Kosugi, Kazuhiko Horiguchi, Akiyo Tanabe, Atsushi Watanabe, Noriko Kimura, Eijiro Nakamura, Akihiro Sakurai, Kiyoto Shiga and Kazuhiro Takekoshiadd Show full author list remove Hide full author list
Cancers 2021, 13(16), 4014; https://doi.org/10.3390/cancers13164014 - 9 Aug 2021
Cited by 10 | Viewed by 4431
Abstract
The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype–phenotype correlation. We examined [...] Read more.
The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype–phenotype correlation. We examined 370 PPGL probands, including 43 patients with family history and/or syndromic presentation and 327 patients with apparently sporadic (AS) presentation. Clinical data and blood samples were collected, and the seven major susceptibility genes (MAX, SDHB, SDHC, SDHD, TMEM127, VHL, and RET) were tested using Sanger sequencing. Overall, 120/370 (32.4%) patients had pathogenic or likely pathogenic variants, with 81/327 (24.8%) in AS presentation. SDHB was the most frequently mutated gene (57, 15.4%), followed by SDHD (27, 7.3%), and VHL (18, 4.9%). The incidence of metastatic PPGL was high in SDHB carriers (21/57, 36.8%). A few unique recurrent variants (SDHB c.137G>A and SDHB c.470delT) were detected in this Japanese cohort, highlighting ethnic differences. In summary, almost a quarter of patients with apparently sporadic PPGL in Japan harboured germline variants of the targeted genes. This study reinforces the recommendation in Western guidelines to perform genetic testing for PPGL and genotype-based clinical decision-making in the Japanese population. Full article
(This article belongs to the Special Issue Research Update on Pheochromocytoma and Paraganglioma)
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21 pages, 3670 KiB  
Article
Mutation of the Cell Cycle Regulator p27kip1 Drives Pseudohypoxic Pheochromocytoma Development
by Hermine Mohr, Simone Ballke, Nicole Bechmann, Sebastian Gulde, Jaber Malekzadeh-Najafabadi, Mirko Peitzsch, Vasilis Ntziachristos, Katja Steiger, Tobias Wiedemann and Natalia S. Pellegata
Cancers 2021, 13(1), 126; https://doi.org/10.3390/cancers13010126 - 2 Jan 2021
Cited by 10 | Viewed by 3830
Abstract
Background: Pseudohypoxic tumors activate pro-oncogenic pathways typically associated with severe hypoxia even when sufficient oxygen is present, leading to highly aggressive tumors. Prime examples are pseudohypoxic pheochromocytomas and paragangliomas (p-PPGLs), neuroendendocrine tumors currently lacking effective therapy. Previous attempts to generate mouse models for [...] Read more.
Background: Pseudohypoxic tumors activate pro-oncogenic pathways typically associated with severe hypoxia even when sufficient oxygen is present, leading to highly aggressive tumors. Prime examples are pseudohypoxic pheochromocytomas and paragangliomas (p-PPGLs), neuroendendocrine tumors currently lacking effective therapy. Previous attempts to generate mouse models for p-PPGLs all failed. Here, we describe that the rat MENX line, carrying a Cdkn1b (p27) frameshift-mutation, spontaneously develops pseudohypoxic pheochromocytoma (p-PCC). Methods: We compared rat p-PCCs with their cognate human tumors at different levels: histology, immunohistochemistry, catecholamine profiling, electron microscopy, transcriptome and metabolome. The vessel architecture and angiogenic potential of pheochromocytomas (PCCs) was analyzed by light-sheet fluorescence microscopy ex vivo and multi-spectral optoacoustic tomography (MSOT) in vivo. Results: The analysis of tissues at various stages, from hyperplasia to advanced grades, allowed us to correlate tumor characteristics with progression. Pathological changes affecting the mitochrondrial ultrastructure where present already in hyperplasias. Rat PCCs secreted high levels of norepinephrine and dopamine. Transcriptomic and metabolomic analysis revealed changes in oxidative phosphorylation that aggravated over time, leading to an accumulation of the oncometabolite 2-hydroxyglutarate, and to hypermethylation, evident by the loss of the epigenetic mark 5-hmC. While rat PCC xenografts showed high oxygenation, induced by massive neoangiogenesis, rat primary PCC transcriptomes possessed a pseudohypoxic signature of high Hif2a, Vegfa, and low Pnmt expression, thereby clustering with human p-PPGL. Conclusion: Endogenous rat PCCs recapitulate key phenotypic features of human p-PPGLs. Thus, MENX rats emerge as the best available animal model of these aggressive tumors. Our study provides evidence of a link between cell cycle dysregulation and pseudohypoxia. Full article
(This article belongs to the Special Issue Research Update on Pheochromocytoma and Paraganglioma)
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