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Pheochromocytoma

MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Synonyms: Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; KIF1B-Related Pheochromocytoma; MAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome; MAX-Related Susceptibility to Pheochromocytoma; Medullary paraganglioma; Pheochromocytoma, somatic; PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO; RET-Related Pheochromocytoma; TMEM127-Related Pheochromocytoma; TMEM127-Related Susceptibility to Pheochromocytoma; VHL-Related Pheochromocytoma
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Chromaffin paraganglioma (302835009); Pheochromocytoma (85583005); Chromaffin paraganglioma (85583005); Chromaffin tumor (85583005); Chromaffinoma (85583005); Chromaffinoma (399343007); Chromaffin tumor (399343007); Adrenal medullary paraganglioma (85583005); Adrenal medullary paraganglioma (302835009); Pheochromocytoma (302835009)
 
Genes (locations): GDNF (5p13.2); KIF1B (1p36.22); MAX (14q23.3); RET (10q11.21); SDHB (1p36.13); SDHD (11q23.1); TMEM127 (2q11.2); VHL (3p25.3)
OMIM®: 171300
HPO: HP:0002666

Definition

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas. [from GTR]

Additional descriptions

From GeneReviews
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.  https://www.ncbi.nlm.nih.gov/books/NBK1548
From OMIM
Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002). Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2. Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200) and concluded that it fits. Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.  http://www.omim.org/entry/171300
From GHR
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. Adrenal glands are located on top of each kidney and produce hormones in response to stress. Most people with paraganglioma develop only one tumor in their lifetime.Some people develop a paraganglioma or pheochromocytoma as part of a hereditary syndrome that may affect other organs and tissues in the body. However, the tumors often are not associated with any syndromes, in which case the condition is called nonsyndromic paraganglioma or pheochromocytoma.Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Although most sympathetic paragangliomas are pheochromocytomas, some are found outside the adrenal glands, usually in the abdomen, and are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating.Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing.Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.  https://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma

Clinical features

Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Cataract, congenital
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A congenital cataract.
Hypertensive retinopathy
MedGen UID:
101819
Concept ID:
C0152132
Disease or Syndrome
Degenerative changes to the RETINA due to HYPERTENSION.
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.
Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal artery stenosis
MedGen UID:
19727
Concept ID:
C0035067
Disease or Syndrome
Narrowing of a main artery in the kidney.(NICHD)
Elevated urinary norepinephrine
MedGen UID:
871153
Concept ID:
C4025626
Finding
An increased concentration of noradrenaline in the urine.
Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.
Renal artery stenosis
MedGen UID:
19727
Concept ID:
C0035067
Disease or Syndrome
Narrowing of a main artery in the kidney.(NICHD)
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Pathologic Function
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Hypertensive retinopathy
MedGen UID:
101819
Concept ID:
C0152132
Disease or Syndrome
Degenerative changes to the RETINA due to HYPERTENSION.
Cerebral hemorrhage
MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage.
Episodic hypertension
MedGen UID:
347389
Concept ID:
C1857175
Finding
Positive regitine blocking test
MedGen UID:
871125
Concept ID:
C4025594
Finding
A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Cerebral hemorrhage
MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage.
Cerebral hemorrhage
MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal artery stenosis
MedGen UID:
19727
Concept ID:
C0035067
Disease or Syndrome
Narrowing of a main artery in the kidney.(NICHD)
Elevated urinary norepinephrine
MedGen UID:
871153
Concept ID:
C4025626
Finding
An increased concentration of noradrenaline in the urine.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
Abnormally high concentration of calcium in the peripheral blood.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Elevated urinary norepinephrine
MedGen UID:
871153
Concept ID:
C4025626
Finding
An increased concentration of noradrenaline in the urine.
Hyperhidrosis
MedGen UID:
11680
Concept ID:
C0038990
Finding
A watery secretion by the sweat glands that is primarily composed of salt, urea and minerals.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Multiple endocrine neoplasia, type 2a
MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a ‘marfanoid’ habitus. MTC typically occurs in early childhood in MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.
Multiple endocrine neoplasia, type 2b
MedGen UID:
9959
Concept ID:
C0025269
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a ‘marfanoid’ habitus. MTC typically occurs in early childhood in MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.
Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
MedGen UID:
331696
Concept ID:
C1834232
Disease or Syndrome
Paragangliomas 3
MedGen UID:
340200
Concept ID:
C1854336
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Paragangliomas 4
MedGen UID:
349380
Concept ID:
C1861848
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Pheochromocytoma-islet cell tumor syndrome
MedGen UID:
401431
Concept ID:
C1868392
Neoplastic Process
Paragangliomas 1
MedGen UID:
358258
Concept ID:
C1868633
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and manifest as intracardiac obstruction of blood flow, embolic phenomena, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in almost all adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.

Professional guidelines

PubMed

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Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada.
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article
Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K; North American Neuroendocrine Tumor Society (NANETS).
Pancreas 2010 Aug;39(6):775-83. doi: 10.1097/MPA.0b013e3181ebb4f0. PMID: 20664475Free PMC Article

Recent clinical studies

Etiology

Kim BJ, Kwak MK, Ahn SH, Kim H, Lee SH, Song KH, Suh S, Kim JH, Koh JM
J Clin Endocrinol Metab 2017 Aug 1;102(8):2711-2718. doi: 10.1210/jc.2017-00169. PMID: 28582552
Spyroglou A, Adolf C, Hahner S, Quinkler M, Ladurner R, Reincke M, Beuschlein F
Horm Metab Res 2017 Mar;49(3):208-213. Epub 2017 Feb 21 doi: 10.1055/s-0042-124189. PMID: 28222463
Cho YY, Kim YN, Kim JH, Jeong BC, Lee SY, Kim JH
Ann Clin Biochem 2017 Jan;54(1):165-169. Epub 2016 Sep 28 doi: 10.1177/0004563215620822. PMID: 26586850
Ohara N, Uemura Y, Mezaki N, Kimura K, Kaneko M, Kuwano H, Ebe K, Fujita T, Komeyama T, Usuda H, Yamazaki Y, Maekawa T, Sasano H, Kaneko K, Kamoi K
J Med Case Rep 2016 Oct 12;10(1):279. doi: 10.1186/s13256-016-1068-3. PMID: 27729064Free PMC Article
Heavner MG, Krane LS, Winters SM, Mirzazadeh M
J Surg Oncol 2015 Oct;112(5):492-5. Epub 2015 Sep 18 doi: 10.1002/jso.24031. PMID: 26384104

Diagnosis

Kim BJ, Kwak MK, Ahn SH, Kim H, Lee SH, Song KH, Suh S, Kim JH, Koh JM
J Clin Endocrinol Metab 2017 Aug 1;102(8):2711-2718. doi: 10.1210/jc.2017-00169. PMID: 28582552
Spyroglou A, Adolf C, Hahner S, Quinkler M, Ladurner R, Reincke M, Beuschlein F
Horm Metab Res 2017 Mar;49(3):208-213. Epub 2017 Feb 21 doi: 10.1055/s-0042-124189. PMID: 28222463
Remón-Ruiz P, Aliaga-Verdugo A, Guerrero-Vázquez R
Gynecol Endocrinol 2017 Feb;33(2):93-95. Epub 2016 Dec 2 doi: 10.1080/09513590.2016.1254181. PMID: 27908211
Ohara N, Uemura Y, Mezaki N, Kimura K, Kaneko M, Kuwano H, Ebe K, Fujita T, Komeyama T, Usuda H, Yamazaki Y, Maekawa T, Sasano H, Kaneko K, Kamoi K
J Med Case Rep 2016 Oct 12;10(1):279. doi: 10.1186/s13256-016-1068-3. PMID: 27729064Free PMC Article
Namekawa T, Utsumi T, Imamoto T, Kawamura K, Oide T, Tanaka T, Nihei N, Suzuki H, Nakatani Y, Ichikawa T
Asian J Surg 2016 Jul;39(3):187-90. Epub 2013 Feb 20 doi: 10.1016/j.asjsur.2012.11.003. PMID: 27338175

Therapy

Sauneuf B, Chudeau N, Champigneulle B, Bouffard C, Antona M, Pichon N, Marrache D, Sonneville R, Marchalot A, Welsch C, Kimmoun A, Bouchet B, Messai E, Ricome S, Grimaldi D, Chelly J, Hanouz JL, Mercat A, Terzi N
Crit Care Med 2017 Jul;45(7):e657-e665. doi: 10.1097/CCM.0000000000002333. PMID: 28403121
Ohara N, Uemura Y, Mezaki N, Kimura K, Kaneko M, Kuwano H, Ebe K, Fujita T, Komeyama T, Usuda H, Yamazaki Y, Maekawa T, Sasano H, Kaneko K, Kamoi K
J Med Case Rep 2016 Oct 12;10(1):279. doi: 10.1186/s13256-016-1068-3. PMID: 27729064Free PMC Article
Castinetti F, Taieb D, Henry JF, Walz M, Guerin C, Brue T, Conte-Devolx B, Neumann HP, Sebag F
Eur J Endocrinol 2016 Jan;174(1):R9-18. Epub 2015 Aug 21 doi: 10.1530/EJE-15-0549. PMID: 26297495
Schovanek J, Bullova P, Tayem Y, Giubellino A, Wesley R, Lendvai N, Nölting S, Kopacek J, Frysak Z, Pommier Y, Kummar S, Pacak K
Endocrinology 2015 Nov;156(11):4094-104. Epub 2015 Aug 12 doi: 10.1210/en.2015-1476. PMID: 26267380Free PMC Article
Dong D, Li H
J Matern Fetal Neonatal Med 2014 Dec;27(18):1930-4. Epub 2014 Jan 29 doi: 10.3109/14767058.2014.880883. PMID: 24397547

Prognosis

Spyroglou A, Adolf C, Hahner S, Quinkler M, Ladurner R, Reincke M, Beuschlein F
Horm Metab Res 2017 Mar;49(3):208-213. Epub 2017 Feb 21 doi: 10.1055/s-0042-124189. PMID: 28222463
Ohara N, Uemura Y, Mezaki N, Kimura K, Kaneko M, Kuwano H, Ebe K, Fujita T, Komeyama T, Usuda H, Yamazaki Y, Maekawa T, Sasano H, Kaneko K, Kamoi K
J Med Case Rep 2016 Oct 12;10(1):279. doi: 10.1186/s13256-016-1068-3. PMID: 27729064Free PMC Article
Namekawa T, Utsumi T, Imamoto T, Kawamura K, Oide T, Tanaka T, Nihei N, Suzuki H, Nakatani Y, Ichikawa T
Asian J Surg 2016 Jul;39(3):187-90. Epub 2013 Feb 20 doi: 10.1016/j.asjsur.2012.11.003. PMID: 27338175
Baldane S, Ipekci SH, Celik E, Gedik GK, Ozaslan E, Guler I, Kebapcilar L
Endocr Regul 2015 Oct;49(4):227-30. PMID: 26494041
Heavner MG, Krane LS, Winters SM, Mirzazadeh M
J Surg Oncol 2015 Oct;112(5):492-5. Epub 2015 Sep 18 doi: 10.1002/jso.24031. PMID: 26384104

Clinical prediction guides

Ohara N, Uemura Y, Mezaki N, Kimura K, Kaneko M, Kuwano H, Ebe K, Fujita T, Komeyama T, Usuda H, Yamazaki Y, Maekawa T, Sasano H, Kaneko K, Kamoi K
J Med Case Rep 2016 Oct 12;10(1):279. doi: 10.1186/s13256-016-1068-3. PMID: 27729064Free PMC Article
Björklund P, Pacak K, Crona J
J Intern Med 2016 Dec;280(6):559-573. Epub 2016 May 10 doi: 10.1111/joim.12507. PMID: 27165774
Jun JH, Ahn HJ, Lee SM, Kim JA, Park BK, Kim JS, Kim JH
Medicine (Baltimore) 2015 Nov;94(45):e1948. doi: 10.1097/MD.0000000000001948. PMID: 26559265Free PMC Article
Baldane S, Ipekci SH, Celik E, Gedik GK, Ozaslan E, Guler I, Kebapcilar L
Endocr Regul 2015 Oct;49(4):227-30. PMID: 26494041
Shawa H, Bajaj M, Cunningham GR
Tex Heart Inst J 2014 Dec;41(6):660-3. Epub 2014 Dec 1 doi: 10.14503/THIJ-13-3692. PMID: 25593537Free PMC Article

Recent systematic reviews

van der Weerd K, van Noord C, Loeve M, Knapen MFCM, Visser W, de Herder WW, Franssen G, van der Marel CD, Feelders RA
Eur J Endocrinol 2017 Aug;177(2):R49-R58. Epub 2017 Apr 5 doi: 10.1530/EJE-16-0920. PMID: 28381449
Castinetti F, Taieb D, Henry JF, Walz M, Guerin C, Brue T, Conte-Devolx B, Neumann HP, Sebag F
Eur J Endocrinol 2016 Jan;174(1):R9-18. Epub 2015 Aug 21 doi: 10.1530/EJE-15-0549. PMID: 26297495
Brunaud L, Nguyen-Thi PL, Mirallie E, Raffaelli M, Vriens M, Theveniaud PE, Boutami M, Finnerty BM, Vorselaars WM, Rinkes IB, Bellantone R, Lombardi C, Fahey T 3rd, Zarnegar R, Bresler L
Surg Endosc 2016 Mar;30(3):1051-9. Epub 2015 Jun 20 doi: 10.1007/s00464-015-4294-7. PMID: 26092019
Kassahun WT
Vascular 2015 Jun;23(3):297-304. Epub 2014 Jul 17 doi: 10.1177/1708538114543845. PMID: 25034038
Niemeijer ND, Alblas G, van Hulsteijn LT, Dekkers OM, Corssmit EP
Clin Endocrinol (Oxf) 2014 Nov;81(5):642-51. Epub 2014 Jul 30 doi: 10.1111/cen.12542. PMID: 25041164

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