{"doi":"10.1002/iju5.12514","title":"Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type <scp>2A</scp> with a lethal outcome","abstract":"<jats:sec><jats:title>Introduction</jats:title><jats:p>Patients with multiple endocrine neoplasia type 2A (MEN2A) harboring a pathological variant in the RET gene are characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Although pheochromocytoma is currently defined as a malignant tumor, MEN2A‐associated pheochromocytoma is known to have a small risk of metastasis.</jats:p></jats:sec><jats:sec><jats:title>Case presentation</jats:title><jats:p>The case was a 62‐year‐old Japanese male with bilateral pheochromocytoma, multiple metastases in the liver and bones, and a cardiac thrombus. Genetic testing revealed a pathological variant at codon 634 of the RET gene, thereby leading a diagnosis of MTC. We considered that the multiple metastases were due to MTC; however, a liver biopsy revealed metastasis of pheochromocytoma.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.</jats:p></jats:sec>","journal":"IJU Case Reports","year":2022,"id":649488,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1693146,"name":"Noriaki Lukas Santo","orcid":null,"position":1,"is_corresponding":false},{"id":1693147,"name":"Masato Yonamine","orcid":null,"position":2,"is_corresponding":false},{"id":211147,"name":"Kazuhiro Takekoshi","orcid":null,"position":3,"is_corresponding":false},{"id":1693148,"name":"Go Kaneko","orcid":"0000-0002-1796-7301","position":4,"is_corresponding":false},{"id":1693149,"name":"Suguru Shirotake","orcid":null,"position":5,"is_corresponding":false},{"id":1693150,"name":"Hisayo Fukushima","orcid":null,"position":6,"is_corresponding":false},{"id":1693151,"name":"Yoshitaka Okada","orcid":null,"position":7,"is_corresponding":false},{"id":186760,"name":"Masanori Yasuda","orcid":null,"position":8,"is_corresponding":false},{"id":626429,"name":"Akihiro Sakurai","orcid":"0000-0002-4413-8701","position":9,"is_corresponding":false},{"id":1693154,"name":"Masafumi Oyama","orcid":null,"position":10,"is_corresponding":false},{"id":1693156,"name":"Kento Kanao","orcid":null,"position":11,"is_corresponding":false},{"id":185069,"name":"Koshiro Nishimoto","orcid":"0000-0002-3952-5643","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type <scp>2A</scp> with a lethal outcome","abstract":"<jats:sec><jats:title>Introduction</jats:title><jats:p>Patients with multiple endocrine neoplasia type 2A (MEN2A) harboring a pathological variant in the RET gene are characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Although pheochromocytoma is currently defined as a malignant tumor, MEN2A‐associated pheochromocytoma is known to have a small risk of metastasis.</jats:p></jats:sec><jats:sec><jats:title>Case presentation</jats:title><jats:p>The case was a 62‐year‐old Japanese male with bilateral pheochromocytoma, multiple metastases in the liver and bones, and a cardiac thrombus. Genetic testing revealed a pathological variant at codon 634 of the RET gene, thereby leading a diagnosis of MTC. We considered that the multiple metastases were due to MTC; however, a liver biopsy revealed metastasis of pheochromocytoma.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.</jats:p></jats:sec>","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"36341186","pmcid":"PMC9626320","openalex_id":"https://openalex.org/W4294723852","authors":[],"funders":[],"total_grants":0,"fwci":0.2101,"citation_percentile":0.52033654,"influential_citations":0,"citation_trend":[{"year":2025,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/iju5.12514","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/iju5.12514","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/iju5.12514","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/iju5.12514","host_type":"publisher"},{"url":"https://doi.org/10.1002/iju5.12514","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/36341186","host_type":"repository"},{"url":"https://doaj.org/article/899c5a85e21f41b8a5da5515c2258062","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9626320","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC9626320","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC9626320?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Adrenal and Paraganglionic Tumors","Thyroid Cancer Diagnosis and Treatment","Neuroendocrine Tumor Research Advances"],"mesh_terms":[],"keywords":["Pheochromocytoma","Multiple endocrine neoplasia type 2","Multiple endocrine neoplasia","Medicine","Metastasis","Pathology","Pathological","Hyperparathyroidism","Thyroid carcinoma","Thyroid","Internal medicine","Cancer","Gene","Biology","Mutation","Germline mutation","Thrombosis","Chemotherapy","Embolization","Metastatic Pheochromocytoma"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-10T03:48:27.870922Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}