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Clinical and Experimental Medicine Aug 2022The aim of our study was to describe the epidemiology, diagnosis, and treatment of the most complex pheochromocytoma and paraganglioma (PGL) cases, including... (Review)
Review
The aim of our study was to describe the epidemiology, diagnosis, and treatment of the most complex pheochromocytoma and paraganglioma (PGL) cases, including pheochromocytoma/PGL during pregnancy, in cyanotic congenital heart diseases (CCHDs), and metastatic pheochromocytoma. The English and Spanish literature was thoroughly evaluated searching for articles reporting clinical studies, case reports, or reviews of pheochromocytoma/PGL in pregnancy and in CCHD and metastatic pheochromocytoma/PGL. Particular settings in the diagnosis and management of pheochromocytoma and PGLs remain challenging. Those special situations include the diagnosis during pregnancy or in the context of CCHD since the typical clinical features of pheochromocytoma may be confounded with preeclampsia during pregnancy and with the complications commonly observed in CCHD. In addition, although some clinical and genetic features have been associated with higher risk of metastatic pheochromocytoma, the detection and prediction of the development of metastatic disease involve another complex situation that may require special hormonal determinations as plasmatic 3-methoxytyramine and nuclear medicine studies including FDG PET-CT or F-FDOPA PET-CT, among others. Furthermore, the selection of the most appropriate treatment in these situations, as well as the moment to carry it out, requires special care as limited evidence is available. This article reviews the epidemiology, diagnosis, and treatment of the pheochromocytoma/PGL during pregnancy, metastatic pheochromocytoma/PGL, and pheochromocytoma/PGL in CCHD. The diagnosis, and especially the treatment, of metastatic pheochromocytomas and pheochromocytoma/PGL during pregnancy and in CCHD is challenging. Thus, these cases should be management in reference centres by multidisciplinary teams specialized in the pheochromocytoma/PGL treatment.
Topics: Adrenal Gland Neoplasms; Female; Heart Defects, Congenital; Humans; Neoplasms, Second Primary; Paraganglioma; Pheochromocytoma; Positron Emission Tomography Computed Tomography; Pregnancy
PubMed: 34591219
DOI: 10.1007/s10238-021-00763-3 -
Anatolian Journal of Cardiology Aug 2022
Topics: Adrenal Gland Neoplasms; Humans; Pheochromocytoma; Takotsubo Cardiomyopathy
PubMed: 35924295
DOI: 10.5152/AnatolJCardiol.2022.2038 -
Annales D'endocrinologie Apr 2022
Topics: Adrenal Gland Neoplasms; Female; Humans; Male; Pheochromocytoma; Renal Insufficiency
PubMed: 35131288
DOI: 10.1016/j.ando.2022.01.005 -
The Journal of Clinical Endocrinology... May 2023
Topics: Humans; Pheochromocytoma; Paraganglioma; Adrenal Gland Neoplasms; Risk Factors
PubMed: 36652425
DOI: 10.1210/clinem/dgad029 -
Advances in Anatomic Pathology Jan 2023Adrenal paraganglioma (or "pheochromocytoma") and extra-adrenal paraganglioma, collectively abbreviated PPGL, are rare but spectacular nonepithelial neuroendocrine... (Review)
Review
Adrenal paraganglioma (or "pheochromocytoma") and extra-adrenal paraganglioma, collectively abbreviated PPGL, are rare but spectacular nonepithelial neuroendocrine neoplasms. These are the most inheritable neoplasia of all, with a metastatic potential in a varying degree. As of such, these lesions demand careful histologic, immunohistochemical, and genetic characterization to provide the clinical team with a detailed report taking into account the anticipated prognosis and risk of syndromic/inherited disease. While no histologic algorithm, immunohistochemical biomarker, or molecular aberration single-handedly can identify potentially lethal cases upfront, the combined analysis of various risk parameters may stratify PPGL patients more stringently than previously. Moreover, the novel 2022 WHO Classification of Endocrine and Neuroendocrine Tumors also brings some new concepts into play, not least the reclassification of special neuroendocrine neoplasms (cauda equina neuroendocrine tumor and composite gangliocytoma/neuroma-neuroendocrine tumor) previously thought to belong to the spectrum of PPGL. This review focuses on updated key diagnostic and prognostic concepts that will aid when facing this rather enigmatic tumor entity in clinical practice.
Topics: Humans; Paraganglioma; Pheochromocytoma; Adrenal Gland Neoplasms; Paraganglioma, Extra-Adrenal; Prognosis; Peripheral Nervous System Neoplasms; Brain Neoplasms
PubMed: 36136370
DOI: 10.1097/PAP.0000000000000365 -
Medecine Sciences : M/S Mar 2022Succinate dehydrogenase (SDH) is a mitochondrial enzyme that participates in both the tricarboxylic acid cycle and the electron transport chain. Mutations in genes...
Succinate dehydrogenase (SDH) is a mitochondrial enzyme that participates in both the tricarboxylic acid cycle and the electron transport chain. Mutations in genes encoding SDH are responsible for a predisposition to pheochromocytomas and paragangliomas, and more rarely, to gastrointestinal stromal tumors or renal cell carcinomas. A decrease in SDH activity, not explained by genetics, has also been observed in more common cancers. One of the consequences of the inactivation of SDH is the excessive production of its substrate, succinate, which acts as an oncometabolite by promoting a pseudohypoxic status and an extensive epigenetic rearrangement. Understanding SDH-related oncogenesis now makes it possible to develop innovative diagnostic methods and to consider targeted therapies for the management of affected patients.
Topics: Adrenal Gland Neoplasms; Gastrointestinal Stromal Tumors; Humans; Paraganglioma; Pheochromocytoma; Succinate Dehydrogenase
PubMed: 35333162
DOI: 10.1051/medsci/2022024 -
Chirurgie (Heidelberg, Germany) Sep 2022Despite the triumph of minimally invasive techniques in adrenal surgery, the indications for open adrenalectomy are indispensable in the canon of treatment options and... (Review)
Review
Despite the triumph of minimally invasive techniques in adrenal surgery, the indications for open adrenalectomy are indispensable in the canon of treatment options and must remain part of the repertoire of visceral surgery. Open adrenalectomy is indicated for advanced adrenal carcinoma (ENSAT stage III). In addition to the frequent local infiltration of these carcinomas which makes the en bloc resection of adjacent organs necessary, thromboses in the renal vein or the vena cava or multiple lymph node metastases can also necessitate an open procedure; however, open adrenalectomy is justified and must also be discussed for adrenocortical carcinoma ENSAT stages I-II (tumor size ≤ 5 cm or > 5 cm, NO). Furthermore, highly suspicious large adrenal tumors (6-8 cm, Hounsfield units > 20) without preoperative evidence of malignancy and other adrenal pathologies, such as neuroblastomas, large pheochromocytomas and also schwannomas can be an indication for open adrenalectomy.
Topics: Adrenal Cortex Neoplasms; Adrenal Gland Neoplasms; Adrenalectomy; Adrenocortical Carcinoma; Humans; Pheochromocytoma
PubMed: 35788865
DOI: 10.1007/s00104-022-01678-9 -
The Journal of Emergency Medicine Jul 2022A pheochromocytoma-induced tako-tsubo syndrome is a life-threatening complication of the rare endocrinological disease. The association between the two syndromes is... (Review)
Review
BACKGROUND
A pheochromocytoma-induced tako-tsubo syndrome is a life-threatening complication of the rare endocrinological disease. The association between the two syndromes is known, though seldom reported in literature, but the categorization is still debated.
CASE REPORT
In this article, we provide two examples of clinical presentation of this rare condition, its diagnosis using point-of-care ultrasound, its management in the emergency department, and finally, a literature review. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: In case of a tako-tsubo syndrome-like myocardial dysfunction in a patient with unknown medical history, or recorded hypertensive or tachycardic peaks, a point-of-care ultrasound scan extended to the kidneys could help evaluate for a reversible underlying trigger cause such as pheochromocytoma.
Topics: Adrenal Gland Neoplasms; Electrocardiography; Emergency Service, Hospital; Humans; Pheochromocytoma; Syndrome; Takotsubo Cardiomyopathy
PubMed: 35940981
DOI: 10.1016/j.jemermed.2022.04.025 -
Frontiers in Endocrinology 2023Pheochromocytomas (PCC)/paragangliomas (PGL) are catecholamine (CA) -secreting neuroendocrine tumors, which are known as PPGL due to their histological and... (Review)
Review
Pheochromocytomas (PCC)/paragangliomas (PGL) are catecholamine (CA) -secreting neuroendocrine tumors, which are known as PPGL due to their histological and pathophysiological similarities. In addition to the typical triad of paroxysmal headache, palpitation, and sweating, PPGL may also be accompanied by symptoms and signs involving multiple organs and systems such as the cardiovascular system, digestive system, endocrine system, and nervous system. Currently, surgical resection is the first choice for PPGL. Safe and effective surgical management of complicated PPGL is the goal of clinical work. In this paper, we discuss this hot issue based on complicated PPGL cases, aiming to share our experience of the surgical management strategy of PPGL.
Topics: Humans; Pheochromocytoma; Paraganglioma; Adrenal Gland Neoplasms; Neuroendocrine Tumors; Catecholamines
PubMed: 37152961
DOI: 10.3389/fendo.2023.1129622 -
Frontiers in Endocrinology 2022Adrenal hemorrhage is a rare, usually life-threating complication. The most common neoplasm resulting in spontaneous adrenal bleeding is pheochromocytoma and it accounts...
BACKGROUND
Adrenal hemorrhage is a rare, usually life-threating complication. The most common neoplasm resulting in spontaneous adrenal bleeding is pheochromocytoma and it accounts for nearly 50% of cases. Currently, the recommendations for the diagnosis and management of patients with adrenal bleeding due to pheochromocytoma are unavailable.
MATERIALS AND METHODS
We performed a database search for all pheochromocytoma patients, diagnosed and treated from 2005 to 2021 in tertiary endocrinology center. 206 patients were identified, 183 with complete data were included in the analysis. We investigated clinicopathological characteristics, treatment and outcomes of hemorrhagic pheochromocytoma cases and characterize our approach to perioperative diagnosis and medical management. Finally our experiences and data from previously published articles concerning adrenal hemorrhage were analyzed to propose a diagnostic and therapeutic algorithm for hemorrhagic pheochromocytomas.
RESULTS
In the whole group, seven patients (4 men and 3 women) with adrenal bleeding were found, (3.8%). Median patient's age was 49 years (range: 36-78 years). The most common manifestation of adrenal bleeding was acute abdominal pain (5/7). Two patients developed shock. Hormonal assessment was performed in five patients, based on 24-hour urinary fractionated metanephrines with urinary 3-methoxytyramine. Normetanephrine was elevated in all patients, metanephrine and 3-methoxytyramine - in four cases (4/5). Most patients (6/7) had symptoms suggesting pheochromocytoma before hemorrhage - most commonly paroxysmal hypertension (4/7). One patient died, before the diagnosis of adrenal bleeding was made. Diagnostic imaging performed in six out of seven patients revealed adrenal tumor, with median largest diameter equal to 7.4 cm (range: 5-11 cm). Five patients had elective surgery, in one case an urgent surgery was performed. In all cases the diagnosis of pheochromocytoma was confirmed in postoperative histopathology or in autopsy. The perioperative survival rate was 85.7%.
CONCLUSIONS
Diagnosis of pheochromocytoma should be always considered in patients with adrenal bleeding, especially with accompanying abdominal pain, hemodynamic shock and previous history of pheochromocytoma-associated symptoms. Lack of proper diagnosis of pheochromocytoma before surgery is associated with an additional perioperative risk. To improve the decision making in this life-threatening clinical situation, based on our results and literature data, we proposed a diagnostic and treatment algorithm.
Topics: Abdominal Pain; Adrenal Gland Neoplasms; Adult; Aged; Algorithms; Female; Hemorrhage; Humans; Male; Middle Aged; Pheochromocytoma
PubMed: 35992110
DOI: 10.3389/fendo.2022.908967