Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome

Koshiro Nishimoto; Noriaki Lukas Santo; Masato Yonamine; Kazuhiro Takekoshi; Go Kaneko; Suguru Shirotake; Hisayo Fukushima; Yoshitaka Okada; Masanori Yasuda; Akihiro Sakurai; Masafumi Oyama; Kento Kanao

doi:10.1002/iju5.12514

Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome

Koshiro Nishimoto
, Noriaki Lukas Santo
, Masato Yonamine
, Kazuhiro Takekoshi
, Go Kaneko
, Suguru Shirotake
, Hisayo Fukushima
, Yoshitaka Okada
, Masanori Yasuda
, Akihiro Sakurai
, Masafumi Oyama
, Kento Kanao

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Introduction: 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. Case presentation: 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. Conclusion: When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.

Original language	English
Pages (from-to)	459-463
Number of pages	5
Journal	IJU Case Reports
Volume	5
Issue number	6
DOIs	https://doi.org/10.1002/iju5.12514
Publication status	Published - 11-2022
Externally published	Yes

All Science Journal Classification (ASJC) codes

Urology

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10.1002/iju5.12514

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title = "Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome",

abstract = "Introduction: 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. Case presentation: 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. Conclusion: When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.",

keywords = "Metastatic pheochromocytoma, chemotherapy, embolization, multiple endocrine neoplasia type 2, thrombosis",

author = "Koshiro Nishimoto and Santo, \{Noriaki Lukas\} and Masato Yonamine and Kazuhiro Takekoshi and Go Kaneko and Suguru Shirotake and Hisayo Fukushima and Yoshitaka Okada and Masanori Yasuda and Akihiro Sakurai and Masafumi Oyama and Kento Kanao",

note = "Publisher Copyright: {\textcopyright} 2022 The Authors. IJU Case Reports published by John Wiley \& Sons Australia, Ltd on behalf of Japanese Urological Association.",

year = "2022",

month = nov,

doi = "10.1002/iju5.12514",

language = "English",

volume = "5",

pages = "459--463",

journal = "IJU Case Reports",

issn = "2577-171X",

publisher = "John Wiley and Sons Inc.",

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TY - JOUR

T1 - Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome

AU - Nishimoto, Koshiro

AU - Santo, Noriaki Lukas

AU - Yonamine, Masato

AU - Takekoshi, Kazuhiro

AU - Kaneko, Go

AU - Shirotake, Suguru

AU - Fukushima, Hisayo

AU - Okada, Yoshitaka

AU - Yasuda, Masanori

AU - Sakurai, Akihiro

AU - Oyama, Masafumi

AU - Kanao, Kento

PY - 2022/11

Y1 - 2022/11

N2 - Introduction: 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. Case presentation: 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. Conclusion: When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.

AB - Introduction: 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. Case presentation: 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. Conclusion: When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.

KW - Metastatic pheochromocytoma

KW - chemotherapy

KW - embolization

KW - multiple endocrine neoplasia type 2

KW - thrombosis

UR - https://www.scopus.com/pages/publications/85138269074

UR - https://www.scopus.com/pages/publications/85138269074#tab=citedBy

U2 - 10.1002/iju5.12514

DO - 10.1002/iju5.12514

M3 - Article

AN - SCOPUS:85138269074

SN - 2577-171X

VL - 5

SP - 459

EP - 463

JO - IJU Case Reports

JF - IJU Case Reports

IS - 6

ER -

Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome

Abstract

All Science Journal Classification (ASJC) codes

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