Objective: To report our experience with Laparoscopic Partial Adrenalectomy (LPA) for recurrent tumours in patients with hereditary phaeochromocytoma.
Patients And Methods: Five patients with hereditary phaeochromocytoma (4 with von Hippel-Lindau disease and 1 with Multiple Endocrine Neoplasia 2B), who had undergone adrenal surgery previously, presented with recurrent adrenal tumours. One patient was pregnant at 20 weeks of gestation. All patients underwent hormonal evaluation, genetic screening and imaging with CT or MRI, metaiodobenzylguanidine (MIBG) scintigraphy.
Results: Of the 7 attempted LPA in five patients, five procedures (71%) were successfully completed and total adrenalectomy was needed on two occasions. The adrenal vein could be spared in all patients except one. There were no intra-operative complications. The adrenal function was adequate in all patients without need for steroid supplementation except one patient who lost both adrenals eventually. There was no correlation between the preservation of adrenal vein and adrenocortical function.
Conclusion: Laparoscopic partial adrenalectomy is feasible, safe and effective in recurrent phaeochromocytoma, despite previous adrenal surgery and is technically easier if the previous approach had been laparoscopic as well. Patients with hereditary phaeochromocytoma are prone for recurrent tumours and may need repeated surgical procedures. Hence, minimally invasive approach is ideal for these patients.
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http://dx.doi.org/10.1016/j.eururo.2005.01.006 | DOI Listing |
Breast Cancer Res Treat
January 2025
Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian , China.
Purpose: Age stratification influences the clinicopathological features and survival outcomes of breast cancer. We aimed to understand the effect of age on gene variants in young Chinese women with breast cancer compared with those from The Cancer Genome Atlas (TCGA).
Methods: Enrolled patients ≤ 40 years old (N = 370) underwent germline or somatic genetic testing using a 32-gene hereditary cancer panel at Fujian Union Hospital.
Orphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR.
Background: This study aimed to evaluate the incidence, contributing factors, and clinical outcomes of acquired cystic kidney disease (ACKD) in children undergoing kidney replacement therapy (KRT).
Methods: We conducted a cross-sectional, territory-wide study at the designated pediatric nephrology center in Hong Kong. ACKD was defined as the presence of ≥ 3 cysts in the native kidneys, excluding congenital or hereditary cystic diseases.
World J Surg Oncol
January 2025
Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring Road West, Fengtai District, Beijing, 100070, China.
Background: This study aims to identify a pathogenic SDHD mutation associated with hereditary head and neck paraganglioma (HNPGL) in a Chinese family and to explore its implications for genetic counseling.
Methods: The study involved a family with 15 members spanning three generations. A 31-year-old patient (II-4) was diagnosed with a left parotid gland tumor and a right carotid body tumor, while both the father and elder sister had right carotid body tumors, and the third sister had bilateral carotid body tumors.
Rev Alerg Mex
December 2024
Médica general, Facultad de Ciencias de la Salud, Universidad Militar Nueva Granada, Hospital Universitario Mayor Méderi, Colombia.
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