ESPE2024 Poster Category 2 Late Breaking (107 abstracts)
A real-world data analysis of 37 pediatric patients with pheochromocytoma and paraganglioma: Evaluation of the concordance between current diagnostic and treatment algorithms and clinical management practices in resource-limited settings
Ilknur Kurt 1 , Busra Gurpinar Tosun 1 , Nihal Gul Uslu 2 , Deniz Ozalp Kizilay 2 , Ibrahim Dikmen 3 , Fatma Ozguc Comlek 4 , Fuat Bugrul 4 , Digdem Bezen 5 , Nihal Hatipoglu 6 , Murat Dogan 7 , Esra Deniz Papatya Cakir 8 , Ahmet Ucar 9 , Bahar Ozcabi 10 , Didem Yildirim Cakar 11 , Emel Hatun Aytac Kaplan 12 , Zumrut Sutcu 12 , Merve Nur Hepokur 13 , Gonul Catli 14 , S. Ahmet Ucakturk 15 , Senol Demir 16 , Zeynep Siklar 3 , Belma Haliloglu 1 , Serap Turan 1 , Abdullah Bereket 1 & Tulay Guran 1
1Marmara University, School of Medicine, Department of Pediatric Endocrinology, 34854, Istanbul, Turkey. 2Ege University, School of Medicine, Department of Pediatric Endocrinology, 35100, Izmir, Turkey. 3Ankara University, School of Medicine, Department of Pediatric Endocrinology, 06620, Ankara, Turkey. 4Selcuk University, School of Medicine, Department of Pediatric Endocrinology, 42250, Konya, Turkey. 5University of Health Sciences, Prof. Dr. Cemil Tascioglu City Hospital, Department of Pediatric Endocrinology, 34384, Istanbul, Turkey. 6Erciyes University, School of Medicine, Department of Pediatric Endocrinology, 38039, Kayseri, Turkey. 7Medical Point Gaziantep Hospital, Department of Pediatric Endocrinology, 52063, Gaziantep, Turkey. 8Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Department of Pediatric Endocrinology, 34147, Istanbul, Turkey. 9Sariyer Hamidiye Etfal Training and Research Hospital, Department of Pediatric Endocrinology, 34453, Istanbul, Turkey. 10Zeynep Kamil Training and Research Hospital, Department of Pediatric Endocrinology, 34668, Istanbul, Turkey. 11Pamukkale University School of Medicine, Department of Pediatric Endocrinology, 20160, Denizli, Turkey. 12Basaksehir Cam and Sakura City Hospital, Department of Pediatric Endocrinology, 34480, Istanbul, Turkey. 13Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Department of Pediatric Endocrinology, 34722, Istanbul, Turkey. 14Istinye University, School of Medicine, Department of Pediatric Endocrinology, 34408, Istanbul, Turkey. 15Adana City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, 01370, Adana, Turkey. 16Marmara University, School of Medicine, Department of Medical Genetics, 34854, Istanbul, Turkey
Background: Pheochromocytomas and paragangliomas (PPGLs) are rare pediatric neuroendocrine tumors. Data on the diagnosis, treatment and follow-up of PPGL in children are limited and lack standardization. Furthermore, variations in access to diagnostic and therapeutic resources across centers contribute to inconsistencies in clinical management.
Aim: To identify variations in the clinical management of paediatric PPGL with the objective of formulating a standardized approach that can be readily implemented.
Participants and Methods: Clinical records of 37 patients (27 males) diagnosed with PPGL at 15 pediatric endocrinology centers in Turkey were evaluated.
Results: The mean age at presentation was 12.5 ± 3.2 years. Common symptoms were headache (65%), sweating (49%), and palpitations (19%), starting 9.9 (range: 0.1-36) months on average before presentation. Fifteen patients (45%) had paroxysmal symptoms. Diagnostic methods included 24-hour urine catecholamines (24UFCat, n = 30), plasma catecholamines (n = 14), anatomical imaging (CT/MRI) (n = 37), and functional imaging (123I-MIBG scan (n = 11) and/or 68Ga-DOTATATE PET/CT (n = 14)). The diagnosis was supported by 24UFCat in 83% (25/30), plasma catecholamines in 86% (12/14), anatomical imaging in all, and 123I-MIBG scan in 81% (9/11). Diagnostic combinations used were urine testing+anatomical imaging in 46% (17 patients), urine+plasma testing+anatomical imaging in 19% (7 patients), and all three methods plus functional imaging in 19% (7 patients). Mean 24UFCat levels were 3.08 times higher for metanephrine (median:0.28, range:0.02−52.5) and 10.15 times higher for normetanephrine (median:8.34, range:0.02−38.4) than the upper reference limits. Catecholamine concentration SDSs did not correlate with tumor size. Molecular analyses in 31 patients identified pathological variants in VHL (n = 16), RET (n = 2), SDHB (n = 2), SDHC (n = 1), SDHD (n = 1), and MEN (n = 1). At diagnosis, seven patients (19%) had a positive family history. Screening found 15 more affected individuals in six families. All patients had surgical tumor resection (laparoscopic/transabdominal:11/26; cortical sparing/adrenalectomy: 13/21). Preoperative preparation averaged 14.3±7.9 days. Preoperative medications were doxazosin (n = 27), phenoxybenzamine (n = 2), and both (n = 2). Twenty-one patients received preoperative β-antagonists. Pathology confirmed pheochromocytoma(n = 33) and paraganglioma (n = 4) diagnoses. Postoperative catecholamines analysed after a a median of 1.26 (range: 0.1-47) months were normal. The patients were followed up for median of 2.6 (range: 0.12-16.73) years. One patient with VHL gene mutation, who was diagnosed at the age of four, had a recurrence at the age of nine.
Conclusion: The diagnostic and management approaches for pediatric PPGL patients are highly dependent on the resources available at the health center. Establishing clinical benchmarks for PPGL will help to reduce variations in management practices.
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