Format

Send to:

Choose Destination

Neuroblastoma(NB)

MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
Synonyms: NB; NEUROBLASTOMA, SUSCEPTIBILITY TO
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
SNOMED CT: NB - Neuroblastoma (87364003); Neuroblastoma (87364003); Neuroblastoma (432328008)
 
Genes (locations): KIF1B (1p36.22); NME1 (17q21.33)
OMIM®: 256700
HPO: HP:0003006

Disease characteristics

Excerpted from the GeneReview: ALK-Related Neuroblastic Tumor Susceptibility
ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GeneReviews]
Authors:
Emily G Greengard  |  Julie R Park   view full author information

Additional descriptions

From OMIM
Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998). Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310). Genetic Heterogeneity of Susceptibility to Neuroblastoma Susceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene (603851) on chromosome 4p12 (NBLST2; 613013) and by mutation in the ALK gene (105590) on chromosome 2p23 (NBLST3; 613014). Loci implicated in the development of neuroblastoma include 6p (NBLST4; 613015), 2q35 (NBLST5; 613016), and 1q21 (NBLST6; 613017).  http://www.omim.org/entry/256700
From GHR
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin.In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue.Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.  https://ghr.nlm.nih.gov/condition/neuroblastoma

Clinical features

Ganglioneuroma
MedGen UID:
6545
Concept ID:
C0017075
Neoplastic Process
A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.
Neuroblastoma
MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Ganglioneuroblastoma
MedGen UID:
60218
Concept ID:
C0206718
Neoplastic Process
A malignant neoplasm characterized by the presence of neuroblastic and ganglion cells and a stroma with Schwannian differentiation.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Horner syndrome
MedGen UID:
5616
Concept ID:
C0019937
Disease or Syndrome
An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
Opsoclonus
MedGen UID:
116616
Concept ID:
C0242567
Disease or Syndrome
Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.
Elevated urinary vanillylmandelic acid
MedGen UID:
866485
Concept ID:
C4020735
Finding
An increased concentration of vanillylmandelic acid in the urine.
Elevated urinary homovanillic acid
MedGen UID:
866486
Concept ID:
C4020736
Finding
An increased concentration of homovanillic acid in the urine.
Elevated urinary dopamine
MedGen UID:
868696
Concept ID:
C4023099
Finding
An increased concentration of dopamine in the urine.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Decrease in existing BODY WEIGHT.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Ganglioneuroma
MedGen UID:
6545
Concept ID:
C0017075
Neoplastic Process
A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.
Horner syndrome
MedGen UID:
5616
Concept ID:
C0019937
Disease or Syndrome
An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Neuroblastoma
MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Spinal cord compression
MedGen UID:
11549
Concept ID:
C0037926
Disease or Syndrome
External mechanical compression of the spinal cord.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Ganglioneuroblastoma
MedGen UID:
60218
Concept ID:
C0206718
Neoplastic Process
A malignant neoplasm characterized by the presence of neuroblastic and ganglion cells and a stroma with Schwannian differentiation.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Finding
A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including. - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
Elevated urinary vanillylmandelic acid
MedGen UID:
866485
Concept ID:
C4020735
Finding
An increased concentration of vanillylmandelic acid in the urine.
Elevated urinary homovanillic acid
MedGen UID:
866486
Concept ID:
C4020736
Finding
An increased concentration of homovanillic acid in the urine.
Elevated urinary dopamine
MedGen UID:
868696
Concept ID:
C4023099
Finding
An increased concentration of dopamine in the urine.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Abnormality of the thorax
MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Skin nodule
MedGen UID:
52367
Concept ID:
C0037287
Acquired Abnormality
Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Congenital Abnormality
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Neuroblastoma
MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Dubowitz syndrome
MedGen UID:
59797
Concept ID:
C0175691
Congenital Abnormality
A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes.
Turcot syndrome
MedGen UID:
78553
Concept ID:
C0265325
Disease or Syndrome
Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates.
Simpson-Golabi-Behmel syndrome
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacies (including macrocephaly, coarse facial features, macrostomia, macroglossia, palatal abnormalities); and commonly, mild to severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti/umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and GI anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors, including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, and hepatocellular carcinoma.
Familial platelet disorder with associated myeloid malignancy
MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
Fanconi anemia, complementation group N
MedGen UID:
372133
Concept ID:
C1835817
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%.
Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%).
Congenital central hypoventilation
MedGen UID:
347052
Concept ID:
C1859049
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults. Classic CCHS presents in newborns as: Apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; Autonomic nervous system dysregulation (ANSD); and In some individuals, altered development of neural crest-derived structures (i.e., Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Individuals with CCHS who have been diagnosed as newborns and ventilated conservatively and consistently throughout childhood have now reached the age of 20 to 30 years; they are highly functional and live independently. LO-CCHS manifests as nocturnal alveolar hypoventilation and mild ANSD. Individuals with LO-CCHS who were not identified until age 20 years or older have now reached the age of 30 to 55 years.
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.
Platelet disorder, undefined
MedGen UID:
401405
Concept ID:
C1868258
Disease or Syndrome

Recent clinical studies

Etiology

Braekeveldt N, Wigerup C, Tadeo I, Beckman S, Sandén C, Jönsson J, Erjefält JS, Berbegall AP, Börjesson A, Backman T, Øra I, Navarro S, Noguera R, Gisselsson D, Påhlman S, Bexell D
Cancer Lett 2016 Jun 1;375(2):384-9. Epub 2016 Mar 18 doi: 10.1016/j.canlet.2016.02.046. [Epub ahead of print] PMID: 27000989
Waldeck K, Cullinane C, Ardley K, Shortt J, Martin B, Tothill RW, Li J, Johnstone RW, McArthur GA, Hicks RJ, Wood PJ
Int J Cancer 2016 Jul 1;139(1):194-204. Epub 2016 Mar 10 doi: 10.1002/ijc.30056. [Epub ahead of print] PMID: 26914605
Pinto N, Mayfield JR, Raca G, Applebaum MA, Chlenski A, Sukhanova M, Bagatell R, Irwin MS, Little A, Rawwas J, Gosiengfiao Y, Delattre O, Janoueix-Lerosey I, Lapouble E, Schleiermacher G, Cohn SL
Pediatr Blood Cancer 2016 Jun;63(6):1019-23. Epub 2016 Feb 10 doi: 10.1002/pbc.25934. [Epub ahead of print] PMID: 26864375
Thompson D, Vo KT, London WB, Fischer M, Ambros PF, Nakagawara A, Brodeur GM, Matthay KK, DuBois SG
Cancer 2016 Mar 15;122(6):935-45. Epub 2015 Dec 28 doi: 10.1002/cncr.29848. [Epub ahead of print] PMID: 26709890Free PMC Article
Harreld JH, Bratton EM, Federico SM, Li X, Grover W, Li Y, Kerr NC, Wilson MW, Hoehn ME
Pediatr Blood Cancer 2016 Apr;63(4):627-33. Epub 2015 Nov 24 doi: 10.1002/pbc.25847. [Epub ahead of print] PMID: 26599346

Diagnosis

Pinto N, Mayfield JR, Raca G, Applebaum MA, Chlenski A, Sukhanova M, Bagatell R, Irwin MS, Little A, Rawwas J, Gosiengfiao Y, Delattre O, Janoueix-Lerosey I, Lapouble E, Schleiermacher G, Cohn SL
Pediatr Blood Cancer 2016 Jun;63(6):1019-23. Epub 2016 Feb 10 doi: 10.1002/pbc.25934. [Epub ahead of print] PMID: 26864375
van Wezel EM, Decarolis B, Stutterheim J, Zappeij-Kannegieter L, Berthold F, Schumacher-Kuckelkorn R, Simon T, Fiocco M, van Noesel MM, Caron HN, van der Schoot CE, Hero B, Tytgat GA
Eur J Cancer 2016 Feb;54:149-58. Epub 2016 Jan 12 doi: 10.1016/j.ejca.2015.11.007. [Epub ahead of print] PMID: 26796600
Thompson D, Vo KT, London WB, Fischer M, Ambros PF, Nakagawara A, Brodeur GM, Matthay KK, DuBois SG
Cancer 2016 Mar 15;122(6):935-45. Epub 2015 Dec 28 doi: 10.1002/cncr.29848. [Epub ahead of print] PMID: 26709890Free PMC Article
Roth SA, Knutsen E, Fiskaa T, Utnes P, Bhavsar S, Hald ØH, Løkke C, Mestdagh P, Johansen SD, Flægstad T, Einvik C
Cancer Lett 2016 Mar 1;372(1):128-36. Epub 2015 Dec 17 doi: 10.1016/j.canlet.2015.11.026. [Epub ahead of print] PMID: 26708804
Harreld JH, Bratton EM, Federico SM, Li X, Grover W, Li Y, Kerr NC, Wilson MW, Hoehn ME
Pediatr Blood Cancer 2016 Apr;63(4):627-33. Epub 2015 Nov 24 doi: 10.1002/pbc.25847. [Epub ahead of print] PMID: 26599346

Therapy

Waldeck K, Cullinane C, Ardley K, Shortt J, Martin B, Tothill RW, Li J, Johnstone RW, McArthur GA, Hicks RJ, Wood PJ
Int J Cancer 2016 Jul 1;139(1):194-204. Epub 2016 Mar 10 doi: 10.1002/ijc.30056. [Epub ahead of print] PMID: 26914605
Roth SA, Knutsen E, Fiskaa T, Utnes P, Bhavsar S, Hald ØH, Løkke C, Mestdagh P, Johansen SD, Flægstad T, Einvik C
Cancer Lett 2016 Mar 1;372(1):128-36. Epub 2015 Dec 17 doi: 10.1016/j.canlet.2015.11.026. [Epub ahead of print] PMID: 26708804
Melen GJ, Franco-Luzón L, Ruano D, González-Murillo Á, Alfranca A, Casco F, Lassaletta Á, Alonso M, Madero L, Alemany R, García-Castro J, Ramírez M
Cancer Lett 2016 Feb 28;371(2):161-70. Epub 2015 Dec 3 doi: 10.1016/j.canlet.2015.11.036. [Epub ahead of print] PMID: 26655276
Zhang L, Scorsone K, Woodfield SE, Zage PE
Cancer Chemother Pharmacol 2015 Nov;76(5):977-87. Epub 2015 Sep 25 doi: 10.1007/s00280-015-2871-z. [Epub ahead of print] PMID: 26407819
Zhou MJ, Doral MY, DuBois SG, Villablanca JG, Yanik GA, Matthay KK
Eur J Cancer 2015 Nov;51(16):2465-72. Epub 2015 Aug 5 doi: 10.1016/j.ejca.2015.07.023. [Epub ahead of print] PMID: 26254811Free PMC Article

Prognosis

Powers JT, Tsanov KM, Pearson DS, Roels F, Spina CS, Ebright R, Seligson M, de Soysa Y, Cahan P, Theißen J, Tu HC, Han A, Kurek KC, LaPier GS, Osborne JK, Ross SJ, Cesana M, Collins JJ, Berthold F, Daley GQ
Nature 2016 Jul 6;535(7611):246-51. doi: 10.1038/nature18632. [Epub ahead of print] PMID: 27383785Free PMC Article
Waldeck K, Cullinane C, Ardley K, Shortt J, Martin B, Tothill RW, Li J, Johnstone RW, McArthur GA, Hicks RJ, Wood PJ
Int J Cancer 2016 Jul 1;139(1):194-204. Epub 2016 Mar 10 doi: 10.1002/ijc.30056. [Epub ahead of print] PMID: 26914605
Pinto N, Mayfield JR, Raca G, Applebaum MA, Chlenski A, Sukhanova M, Bagatell R, Irwin MS, Little A, Rawwas J, Gosiengfiao Y, Delattre O, Janoueix-Lerosey I, Lapouble E, Schleiermacher G, Cohn SL
Pediatr Blood Cancer 2016 Jun;63(6):1019-23. Epub 2016 Feb 10 doi: 10.1002/pbc.25934. [Epub ahead of print] PMID: 26864375
Thompson D, Vo KT, London WB, Fischer M, Ambros PF, Nakagawara A, Brodeur GM, Matthay KK, DuBois SG
Cancer 2016 Mar 15;122(6):935-45. Epub 2015 Dec 28 doi: 10.1002/cncr.29848. [Epub ahead of print] PMID: 26709890Free PMC Article
Harreld JH, Bratton EM, Federico SM, Li X, Grover W, Li Y, Kerr NC, Wilson MW, Hoehn ME
Pediatr Blood Cancer 2016 Apr;63(4):627-33. Epub 2015 Nov 24 doi: 10.1002/pbc.25847. [Epub ahead of print] PMID: 26599346

Clinical prediction guides

Waldeck K, Cullinane C, Ardley K, Shortt J, Martin B, Tothill RW, Li J, Johnstone RW, McArthur GA, Hicks RJ, Wood PJ
Int J Cancer 2016 Jul 1;139(1):194-204. Epub 2016 Mar 10 doi: 10.1002/ijc.30056. [Epub ahead of print] PMID: 26914605
Pinto N, Mayfield JR, Raca G, Applebaum MA, Chlenski A, Sukhanova M, Bagatell R, Irwin MS, Little A, Rawwas J, Gosiengfiao Y, Delattre O, Janoueix-Lerosey I, Lapouble E, Schleiermacher G, Cohn SL
Pediatr Blood Cancer 2016 Jun;63(6):1019-23. Epub 2016 Feb 10 doi: 10.1002/pbc.25934. [Epub ahead of print] PMID: 26864375
van Wezel EM, Decarolis B, Stutterheim J, Zappeij-Kannegieter L, Berthold F, Schumacher-Kuckelkorn R, Simon T, Fiocco M, van Noesel MM, Caron HN, van der Schoot CE, Hero B, Tytgat GA
Eur J Cancer 2016 Feb;54:149-58. Epub 2016 Jan 12 doi: 10.1016/j.ejca.2015.11.007. [Epub ahead of print] PMID: 26796600
Thompson D, Vo KT, London WB, Fischer M, Ambros PF, Nakagawara A, Brodeur GM, Matthay KK, DuBois SG
Cancer 2016 Mar 15;122(6):935-45. Epub 2015 Dec 28 doi: 10.1002/cncr.29848. [Epub ahead of print] PMID: 26709890Free PMC Article
Parsons LN, Gheorghe G, Yan K, Simpson P, Jarzembowski JA
Pediatr Dev Pathol 2016 May-Jun;19(3):230-6. Epub 2015 Oct 22 doi: 10.2350/15-07-1676-OA.1. [Epub ahead of print] PMID: 26491958

Recent systematic reviews

Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, McDaniel LD, Diamond M, Hart LS, Zhu S, Durbin AD, Abraham BJ, Anders L, Tian L, Zhang S, Wei JS, Khan J, Bramlett K, Rahman N, Capasso M, Iolascon A, Gerhard DS, Guidry Auvil JM, Young RA, Hakonarson H, Diskin SJ, Look AT, Maris JM
Nature 2015 Dec 17;528(7582):418-21. Epub 2015 Nov 11 doi: 10.1038/nature15540. [Epub ahead of print] PMID: 26560027Free PMC Article
Yalçin B, Kremer LC, van Dalen EC
Cochrane Database Syst Rev 2015 Oct 5;(10):CD006301. doi: 10.1002/14651858.CD006301.pub4. PMID: 26436598
Bleeker G, Tytgat GA, Adam JA, Caron HN, Kremer LC, Hooft L, van Dalen EC
Cochrane Database Syst Rev 2015 Sep 29;(9):CD009263. doi: 10.1002/14651858.CD009263.pub2. PMID: 26417712Free PMC Article
Peinemann F, Tushabe DA, van Dalen EC, Berthold F
Cochrane Database Syst Rev 2015 May 19;(5):CD010774. doi: 10.1002/14651858.CD010774.pub2. PMID: 25989478
Mullassery D, Farrelly P, Losty PD
Pediatr Hematol Oncol 2014 Nov;31(8):703-16. Epub 2014 Sep 23 doi: 10.3109/08880018.2014.947009. [Epub ahead of print] PMID: 25247398

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...