Malignant pheochromocytomas and paragangliomas – The importance of a multidisciplinary approach

Andersen, Kim Francis; Altaf, Rahim; Krarup-Hansen, Anders; Kromann‐Andersen, Bjarne; Horn, Thomas; Christensen, Niels Juel; Hendel, Helle Westergren

doi:10.1016/j.ctrv.2010.07.002

Cited by 84 publications

(74 citation statements)

References 103 publications

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“…Most of these tumors arise sporadically in the later period of life, especially after the sixth decade. Approximately 20% of these tumors are malignant (10). In the majority of cases, paragangliomas of the head and neck are benign.…”

Section: Discussionmentioning

confidence: 99%

A rare case of ectopic ACTH syndrome originating from malignant renal paraganglioma

Tutal¹,

Yılmazer²,

Demirci³

et al. 2017

Arch. Endocrinol. Metab.

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SUMMARYEctopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of a non-pituitary ACTH-secreting tumor leading to Cushing's syndrome. Only a few cases have been reported previously as causing ectopic ACTH related to paraganglioma. Herein, we present a case of Cushing's syndrome, in who was proved to be attributable to an ACTHsecreting renal malignant paraganglioma. A 40-year-old woman presented with a five-month history of newly diagnosed hypertension and diabetes, weakness, hyperpigmentation, oligomenorrhea, hirsutism, and acneiform lesions. She showed cushingoid features, including moon face, facial hirsutism, facial and truncal acne, hyperpigmentation, and severe muscle weakness of the limbs. She did not have other findings such as striae, supraclavicular fat accumulation, and buffalo hump. Laboratory examination showed the presence of hypopotasemia, hyperglycemia, hyperthyroidism, and leukocytosis. The serum levels of ACTH, cortisol, and urine-free cortisol were markedly elevated. Results of an overnight 2-mg dexamethasone suppression test included a basal serum cortisol of 61.1 mcg/dL (normal range: 4.6-22.8 mcg/dL) and a cortisol value of 46.1 mcg/dL after dexamethasone administration. There was no suppression found after 2-day 8-mg dexamethasone administration. Magnetic resonance imaging (MRI) of the pituitary gland indicated two microadenomas. An abdominal MRI scan revealed horseshoe kidney, bilateral adrenal hyperplasia, and masses with dimensions of 35 x 31 mm in the left kidney. Inferior petrosal sinus sampling showed no evidence of a central-to-peripheral gradient of ACTH. A positron emission tomography/computed tomography scan showed intense increased activity in the lower pole of the left kidney. Left adrenalectomy and left partial nephrectomy were performed. The resected tumor was diagnosed as the ACTH-secreting paraganglioma in the pathological examination, which was confirmed by immunohistochemical studies with chromogranin A, synaptophysin, and ACTH. Only a few cases of paragangliomas as a cause of ectopic ACTH syndrome have been reported. To our knowledge, this is the first case of renal paraganglioma resulting in Cushing's syndrome due to ectopic ACTH hypersecretion. Arch Endocrinol Metab. 2017;61(3):291-5.

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Section: Discussionmentioning

confidence: 99%

A rare case of ectopic ACTH syndrome originating from malignant renal paraganglioma

Tutal¹,

Yılmazer²,

Demirci³

et al. 2017

Arch. Endocrinol. Metab.

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“…Therefore, it remains important to use all available resources, including cell line and animal models, for ongoing research into appropriate therapeutics [224]. Even more crucial is the requirement for international collaboration [225], which will not only facilitate optimal management but also allow accurate data collection and biobanking of specimens. Large-scale international multicenter studies will be required to effectively exploit and clinically translate the molecular and genetic knowledge gained in the last decade into effective targeted molecular therapies.…”

Section: Future Directionsmentioning

confidence: 99%

Molecular and Therapeutic Advances in the Diagnosis and Management of Malignant Pheochromocytomas and Paragangliomas

et al. 2013

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Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare catecholamine-secreting tumors derived from chromaffin cells originating in the neural crest. These tumors represent a significant diagnostic and therapeutic challenge because the diagnosis of malignancy is frequently made in retrospect by the development of metastatic or recurrent disease. Complete surgical resection offers the only potential for cure; however, recurrence can occur even after apparently successful resection of the primary tumor. The prognosis for malignant disease is poor because traditional treatment modalities have been limited. The last decade has witnessed exciting discoveries in the study of PCCs and PGLs; advances in molecular genetics have uncovered hereditary and germline mutations of at least 10 genes that contribute to the development of these tumors, and increasing knowledge of genotype-phenotype interactions has facilitated more accurate determination of malignant potential. Elucidating the molecular mechanisms responsible for malignant transformation in these tumors has opened avenues of investigation into targeted therapeutics that show promising results. There have also been significant advances in functional and radiological imaging and in the surgical approach to adrenalectomy, which remains the mainstay of treatment for PCC. In this review, we discuss the currently available diagnostic and therapeutic options for patients with malignant PCCs and PGLs and detail the molecular rationale and clinical evidence for novel and emerging diagnostic and therapeutic strategies. TheOncologist2013; 18:391-407 Implications for Practice: Malignant pheochromocytoma and paraganglioma represent a significant management challenge.The diagnosis of malignancy is frequently made in retrospect and traditional treatment modalities have been limited. Recent exciting advances in molecular genetics have uncovered hereditary and germline mutations of at least 10 genes that contribute to the development of these tumors. Increasing knowledge of genotype-phenotype interactions facilitates more accurate determination of malignant potential and has prompted investigation into targeted therapeutics with promising results. There have also been significant advances in functional and radiological imaging and in the surgical approach to adrenalectomy, which remains the mainstay of treatment for pheochromocytoma. Due to the rarity of this tumor, large-scale clinical studies that would progress clinical practice are rare, and the requirement for international collaboration is crucial. The need for large-scale international multicenter studies to effectively exploit the molecular and genetic knowledge gained in this area is highlighted in this review.

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“…It is a slow-growing tumor that often presents as a painless mass in the fifth or sixth decade of life [4], and often recurs after incomplete surgical resection. Although regarded as benign in nature, PG possesses metastatic possibility which is a marker of malignant transformation [5,6] as there are no molecular or cellular markers existing for determining whether PG is malignant [7][8][9]. Metastatic PGs (MPG) are among the solid tumors that most frequently spread to the skeleton, with spine being the most frequently affected site [10].…”

Section: Introductionmentioning

confidence: 99%

“…Spinal MPG was uncommon and sporadically reported in the English literature [2][3][4][5][6][11][12][13][14][15][16][17] with no case series study. Spinal lesions could cause bone destruction or compression of the spinal cord, clinically manifesting as pain or neurological deficits.…”

Section: Introductionmentioning

confidence: 99%

Treatment and outcome of metastatic paraganglioma of the spine

et al. 2017

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Background Spinal metastatic paraganglioma (MPG) is rare and only reported in individual case reports. The low incidence makes it difficult to define appropriate therapy and prognosis. Our study illustrated the largest series to discuss the possible treatment and outcomes of patients with spinal MPG. Methods A retrospective study of 15 patients with spinal MPG who were surgically treated between 2005 and 2014 was performed. Three surgical modalities were applied, and radiotherapy and chemotherapy were utilized as adjuvant therapy. Results The mean patients age was 40.9 (range 23-58) years. The period between primary surgery and spinal metastasis averaged 8.2 (0.5-15) years. Lesions were mainly located in cervical spine (2), thoracic spine (8), lumbar spine (3), and sacrum (2). The mean follow-up period was 35.0 months. Lesion progression was detected in nine patients, whereas five patients (33.3%) passed away. For solitary spine, multiple bone and both bone and nonosseous metastasis cases, the mean progression-free survival was 41 (range 9-56), 22.5 (range 12-38) and 8.3 (range 3-18) months, respectively. Conclusions The cases presented in the current study highlight the crucial role of surgery. Total en bloc for solitary spinal MPG could result in a satisfying prognosis and piecemeal total resection with postoperative radiotherapy could be an alternative therapy. Radiotherapy and chemotherapy were advocated, especially for the multiple metastasis.

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Malignant pheochromocytomas and paragangliomas – The importance of a multidisciplinary approach

Cited by 84 publications

References 103 publications

A rare case of ectopic ACTH syndrome originating from malignant renal paraganglioma

A rare case of ectopic ACTH syndrome originating from malignant renal paraganglioma

Molecular and Therapeutic Advances in the Diagnosis and Management of Malignant Pheochromocytomas and Paragangliomas

Treatment and outcome of metastatic paraganglioma of the spine

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