scholarly journals Non-Functioning Pheochromocytoma in a Patient With Von Hippel Lindau Syndrome (VHL): Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1002-A1002
Author(s):  
Gustavo Piech Ricardo ◽  
Nilza Scalissi ◽  
Cristina Bellotti Formiga Bueno ◽  
Renata Da Cunha Scalco ◽  
Jose Viana Lima
Keyword(s):  
Case Report ◽  
Adrenal Gland ◽  
Renal Carcinoma ◽  
Whole Body ◽  
Left Adrenal Gland ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Diagnostic Management ◽  
Exon 1 ◽  
Magnetic Resonance Imaging Mri

Abstract Background: We report the case of a patient with VHL Syndrome with an adrenal lesion compatible with non-functioning pheochromocytoma and it’s diagnostic management. Case Report: JMN, female, 32 years old, referred for screening for VHL syndrome, after diagnosis in a sister, who has clear cell renal carcinoma (ccRCC), cerebellar hemangioblastoma and genetic analysis, by next generation sequencing (NGS), which identified the allelic variant germline pathogenic c. 256C> T in heterozygosis in exon 1 of the VHL gene. The patient is asymptomatic and her physical examination is normal. Optic fundus examination with lesion suggestive of right hemangioblastoma. Family history: mother who died at 59 with a diagnosis of ccRCC, without genetic investigation. Maternal aunt diagnosed with VHL and involvement of the cerebellum, kidney and pancreas. Two brothers with genetic and clinical diagnosis of VHL syndrome, presenting pheochromocytoma and renal carcinoma. Laboratory tests: plasma metanephrine: 0.3 nmol/L (RV <0.5nmol/L), plasma normetanephrine: 0.5 nmol/L (RV <0.9nmol/L), chromogranin A 61 ng/mL (RV <93 ng/ml). Genetic evaluation by NGS identified the pathogenic variant c. 256C> T in heterozygosity in exon 1 of the VHL gene. Topographic examinations: magnetic resonance imaging (MRI) of adrenals with nodule in the left adrenal gland, hypersignal in T2, measuring 2.9 x 2.3 cm, suggestive of pheochromocytoma and whole body scintigraphy with metaiodobenzylguanidine (MIBG) positive in the left adrenal gland. She underwent resection of the tumor in the left adrenal, without complications. Anatomopathology compatible with pheochromocytoma with immunohistochemistry for ki67 <3%. Currently, the patient is clinically stable and with periodic follow-up, as well as family members, performing screening for diseases associated with VHL. Conclusion: VHL syndrome is one of the possible causes of non-functioning pheochromocytomas and paragangliomas, and adrenal lesions with negative metanephrine levels do not exclude them; thus highlighting the importance of exams such as CT or MRI and functional topographic studies (whole body scintigraphy with MIBG and / or PETCT with Galio68DOTA) for their diagnosis.

A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

2004 ◽  
Vol 7 (4) ◽  
pp. 403-406 ◽  
Author(s):  
Mana M. Parast ◽  
Grant Eudy ◽  
Kenneth W. Gow ◽  
Mahul Amin ◽  
Bahig Shehata
Keyword(s):  
Gene Mutation ◽  
Renal Carcinoma ◽  
Pediatric Population ◽  
Single Point ◽  
Single Point Mutation ◽  
Transcription Factor Gene ◽  
Unique Case ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.

scholarly journals An Unexpected Case Report of Adrenal Lymphangioma: Mimicking Metastatic Tumor on Imaging in a Patient With Pancreatic Cancer

2021 ◽  
Vol 11 ◽  
Author(s):  
Shang Wan ◽  
Xijiao Liu ◽  
Bole Tian ◽  
Dan Cao ◽  
Mao Li ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Pancreatic Tumor ◽  
Benign Lesion ◽  
Metastatic Tumor ◽  
Imaging Features ◽  
Left Adrenal Gland ◽  
Accurate Preoperative Diagnosis ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Pancreatic Origin

Adrenal lymphangioma is a very rare benign lesion worldwide and remains challenging for early diagnosis, especially when the patient has some complicated clinical disease. This is an unusual case of a 68-year-old man who was admitted to our hospital with a history of pancreatic tumor. Computed tomography (CT) images and subsequent magnetic resonance imaging (MRI) revealed a mass located in the left adrenal gland, presenting a similar enhancement pattern of the pancreatic tumor, and according to the imaging features, the patient was suspected to have an adrenal metastatic tumor originating from the pancreatic tumor. The patient underwent a surgical resection of the pancreatic tumor and the left adrenal gland. The pathologic diagnosis proved to be lymphangioma deriving from the left adrenal gland. This is the first report presenting an atypical adrenal lymphangioma mimicking a metastatic tumor of pancreatic origin, which might be suggestive in the diagnosis of adrenal lesions and the subsequent clinical treatment, especially when patient has a particular medical history. As we know, imaging examination is helpful for accurate preoperative diagnosis; however, the diagnosis of malignant tumor solely based on imaging procedures should be made cautiously by radiologists.

scholarly journals Retroperitoneal extraosseous peripheral primitive neuroectodermal tumor in a Formosan serow: case report and literature review

2019 ◽  
Vol 31 (6) ◽  
pp. 883-888
Author(s):  
Yu-Han Hsieh ◽  
Yung-Hsiang Hsu ◽  
Chen-Yeh Lien ◽  
Chen-Hsuan Liu ◽  
Wen-Ta Li
Keyword(s):  
Case Report ◽  
Urinary Bladder ◽  
Literature Review ◽  
Adrenal Gland ◽  
Blood Cell ◽  
Primitive Neuroectodermal Tumor ◽  
Neuroectodermal Tumor ◽  
Peripheral Primitive Neuroectodermal Tumor ◽  
Left Adrenal Gland ◽  
Neoplastic Cells

A 10-y-old female captive Formosan serow ( Capricornis swinhoei) was inactive and was azotemic. An autopsy was performed following her death, and multiple irregularly shaped, white-to-gray masses of 0.5–2 cm diameter were noted on both ureters, the left adrenal gland, urinary bladder, and uterus. Microscopically, organs were effaced by a poorly demarcated, highly infiltrative neoplasm, composed of neoplastic round cells arranged in islands, sheets, or nests with occasional rosette formation. The neoplastic cells were small: ≤2 red blood cell (≤ 15 μm) diameter. The neoplastic cells were positive for CD56, CK, FLI-1, and NSE, but negative for desmin, GFAP, melan A, NF, PAX-8, S100, synaptophysin, and vimentin. Therefore, the diagnosis of retroperitoneal extraosseous peripheral primitive neuroectodermal tumor (pPNET) was made. pPNET with FLI-1 expression has not been reported previously in animals, to our knowledge.

scholarly journals Angiomyolipoma of the left adrenal gland: a case report and literature review

Gland Surgery ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1826-1831
Author(s):  
Yonghua Bai ◽  
Lingli Li ◽  
Jingjing Zhang ◽  
Jie Hu ◽  
Yu Yin ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Adrenal Gland ◽  
Left Adrenal Gland

Primary Adrenal Glomus Tumor: The First Case Report

2021 ◽  
pp. 1-4
Author(s):  
Yuqi Hu ◽  
Xianglei He ◽  
Qi Zhang ◽  
Dahong Zhang ◽  
Ming Zhao
Keyword(s):  
Case Report ◽  
Adrenal Gland ◽  
Adrenal Mass ◽  
Glomus Tumor ◽  
Left Adrenal Gland ◽  
Unique Case ◽  
Primary Tumors ◽  
First Case ◽  
Tomography Scan

We report a unique case of a 25-year-old man who was incidentally identified to have a mass in the left adrenal gland region by computerized tomography scan. The image revealed a 1.8 × 1.6 cm, well-defined adrenal mass with moderately homogeneous enhancement. The mass was laparoscopically completely removed, and the diagnosis of a solid variant glomus tumor of the adrenal gland was rendered. There were no histologic features indicating atypia or malignance and no primary tumors anywhere else. The patient was free of disease at the 6-month follow-up. To our knowledge, this is the first case of primary adrenal glomus tumor described in the literature.

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