Case Reports Journal of the Endocrine Society. 2020 Jul 21;4(9):bvaa101. doi: 10.1210/jendso/bvaa101 N/A3.02024

Adrenal Corticomedullary Mixed Tumor Associated With the FGFR4-G388R Variant

与FGFR4-G388R变异相关的肾上腺皮质髓质混合瘤翻译改进

Maki Kanzawa¹, Hidenori Fukuoka², Akane Yamamoto², Kentaro Suda², Katsumi Shigemura³, Shigeo Hara⁴, Naoko Imagawa¹, Ryuko Tsukamoto¹, Yayoi Aoyama⁵, Yasuhiro Nakamura⁶, Masato Fujisawa³, Wataru Ogawa⁷, Yutaka Takahashi⁷, Tomoo Itoh¹

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作者单位

¹ Department of Diagnostic Pathology, Kobe University Hospital, Kobe, Japan.

² Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe, Japan.

³ Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.

⁴ Division of Urology, Department of Surgery Related, Kobe University Graduate School of Medicine, Kobe, Japan.

⁵ Department of Diagnostic Pathology, Kobe City Medical Center General Hospital, Kobe, Japan.

⁶ Department of Pathology, Tohoku University Hospital, Sendai, Japan.

⁷ Division of Pathology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.

DOI: 10.1210/jendso/bvaa101 PMID: 32803097

摘要 Ai翻译

Adrenal corticomedullary mixed tumors (CMMTs) are extremely rare; with only 20 cases being reported to date, the pathogenesis has remained elusive. A 31-year-old woman developed gestational hypertension with psychiatric disturbances persistent to postpartum and was diagnosed with pheochromocytoma, for which adrenalectomy was performed. Histological findings showed mixed adrenocortical adenoma and pheochromocytoma. Double immunostaining of inhibin and INSM1 (insulinoma-associated protein 1) showed that the 2 tumor components had distinct functional properties. Exome analysis of peripheral leukocytes and tumor (singular, as anatomically it is only 1 mass) revealed a homozygous germline FGFR4-G388R variant. As a readout of the variant, serine phosphorylation of signal transducer and activator of transcription 3 (STAT3) was detected only in the nucleus of adrenocortical adenoma component but not in the pheochromocytoma component. No tyrosine phosphorylation of STAT3 was detected. We report a case of CMMT with the germline FGFR4-G388R variant. Although additional studies are required, our immunohistochemical analysis suggests that the variant may play a role in the development of the adrenocortical component within the pheochromocytoma, leading to CMMT.

Keywords: FGFR4-G388R variant; adrenal gland; corticomedullary mixed tumor.

关键词：肾上腺皮质髓质混合瘤