Metastatic Pheochromocytoma Diagnosed with 131 I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation

被引：0

作者：

Vankadari, Kousik ^{[1
]}

Boddula, Raman ^{[2
]}

Hegde, Aditya Gajanan ^{[2
]}

Chinte, Chimutai ^{[2
]}

机构：

[1] Yashoda Hosp, Dept Nucl Med, Secunderabad, Telangana, India

[2] Yashoda Hosp, Dept Endocrinol, Secunderabad, Telangana, India

来源：

WORLD JOURNAL OF NUCLEAR MEDICINE | 2022年 / 21卷 / 01期

关键词：

metastatic pheochromocytoma; missense VHL mutation; MIBG; Arg167Gln; GERMLINE MUTATIONS;

D O I：

10.1055/s-0042-1746177

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Pheochromocytoma is a rare catecholamine secreting neuroendocrine tumor arising from chromaffin cells of adrenal medulla with approximate prevalence of 0.1 to 0.6% in patients suffering from hypertension. Hypertensive control followed by surgical resection remains the primary treatment of choice. Although it is considered a slow growing benign tumor, it rarely leads to recurrence of tumor in the lymph nodes, liver, and lungs. Association of benign pheochromocytoma with familial or de novo Von Hippel-Lindau (VHL) mutations is well reported in literature. Here, we report a case of metastatic pheochromocytoma arising from commonly seen benign VHL mutation.

引用

页码：73 / 75

页数：3

共 9 条

[1] GERMLINE MUTATIONS IN THE VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE - CORRELATIONS WITH PHENOTYPE [J].

CHEN, F ;

KISHIDA, T ;

YAO, M ;

HUSTAD, T ;

GLAVAC, D ;

DEAN, M ;

GNARRA, JR ;

ORCUTT, ML ;

DUH, FM ;

GLENN, G ;

GREEN, J ;

HSIA, YE ;

LAMIELL, J ;

LI, H ;

WEI, MH ;

SCHMIDT, L ;

TORY, K ;

KUZMIN, I ;

STACKHOUSE, T ;

LATIF, F ;

LINEHAN, WM ;

LERMAN, M ;

ZBAR, B .

HUMAN MUTATION, 1995, 5 (01) :66-75

[2]

Chittiboina Prashant, 2015, Handb Clin Neurol, V132, P139, DOI 10.1016/B978-0-444-62702-5.00010-X

[3] VHL, the story of a tumour suppressor gene [J].

Gossage, Lucy ;

Eisen, Tim ;

Maher, Eamonn R. .

NATURE REVIEWS CANCER, 2015, 15 (01) :55-64

[4] Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors [J].

Krauss, Tobias ;

Ferrara, Alfonso Massimiliano ;

Links, Thera P. ;

Wellner, Ulrich ;

Bancoss, Irina ;

Kvachenyuk, Andrey ;

Gomez de las Heras, Karim Villar ;

Yukina, Marina Y. ;

Petrov, Roman ;

Bullivant, Garrett ;

von Duecker, Laura ;

Jadhav, Swati ;

Ploeckinger, Ursula ;

Welin, Staffan ;

Schalin-Jantti, Camilla ;

Gimm, Oliver ;

Pfeifer, Marija ;

Ngeow, Joanne ;

Hasse-Lazar, Kornelia ;

Sanso, Gabriela ;

Qi, Xiaoping ;

Ugurlu, M. Umit ;

Diaz, Rene E. ;

Wohllk, Nelson ;

Peczkowska, Mariola ;

Aberle, Jens ;

Lourenco Jr, Delmar M. ;

Pereira, Maria A. A. ;

Fragoso, Maria C. B., V ;

Hoff, Ana O. ;

Almeida, Madson Q. ;

Violante, Alice H. D. ;

Ouidute, Ana R. P. ;

Zhang, Zhewei ;

Recasens, Monica ;

Robles Diaz, Luis ;

Kunavisarut, Tada ;

Wannachalee, Taweesak ;

Sirinvaravong, Sirinart ;

Jonasch, Eric ;

Grozinsky-Glasberg, Simona ;

Fraenkel, Merav ;

Beltsevich, Dmitry ;

Egorov, Viacheslav, I ;

Bausch, Dirk ;

Schott, Matthias ;

Tiling, Nikolaus ;

Pennelli, Gianmaria ;

Zschiedrich, Stefan ;

Daerr, Roland .

[5] Molecular and Therapeutic Advances in the Diagnosis and Management of Malignant Pheochromocytomas and Paragangliomas [J].

Lowery, Aoife J. ;

Walsh, Siun ;

McDermott, Enda W. ;

Prichard, Ruth S. .

ONCOLOGIST, 2013, 18 (04) :391-407

[6] Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome [J].

Nielsen, Sarah M. ;

Rhodes, Lindsay ;

Blanco, Ignacio ;

Chung, Wendy K. ;

Eng, Charis ;

Maher, Eamonn R. ;

Richard, Stephane ;

Giles, Rachel H. .

JOURNAL OF CLINICAL ONCOLOGY, 2016, 34 (18) :2172-+

[7] Aggressive Imaging Features in a Malignant Pheochromocytoma With a Novel Mutation of the SDHB Gene [J].

Park, Soon-Ah ;

Lee, Dae Ho ;

Kim, Hun Soo .

CLINICAL NUCLEAR MEDICINE, 2017, 42 (09) :687-689

[8] Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients [J].

Peng, Shuanghe ;

Shepard, Matthew J. ;

Wang, Jiangyi ;

Li, Teng ;

Ning, Xianghui ;

Cai, Lin ;

Zhuang, Zhengping ;

Gong, Kan .

ONCOTARGET, 2017, 8 (24) :38456-38465

[9] MOLECULAR ANALYSIS OF DE-NOVO GERMLINE MUTATIONS IN THE VON HIPPEL-LINDAU DISEASE GENE [J].

RICHARDS, FM ;

PAYNE, SJ ;

ZBAR, B ;

AFFARA, NA ;

FERGUSONSMITH, MA ;

MAHER, ER .

HUMAN MOLECULAR GENETICS, 1995, 4 (11) :2139-2143

← 1 →