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Neuroblastoma(NB)

MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
Synonym: NB
SNOMED CT: NB - Neuroblastoma (87364003); Neuroblastoma (87364003); Neuroblastoma (432328008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: KIF1B, PHOX2B, ALK
 
HPO: HP:0003006
Monarch Initiative: MONDO:0005072
Orphanet: ORPHA635

Disease characteristics

Excerpted from the GeneReview: ALK-Related Neuroblastic Tumor Susceptibility
ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including 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. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 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 description

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Conditions with this feature

Dubowitz syndrome
MedGen UID:
59797
Concept ID:
C0175691
Disease or Syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).
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 for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
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 distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; 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 lead to catecholamine excess. Symptoms of PGL/PCC result from either 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 developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Platelet disorder, undefined
MedGen UID:
401405
Concept ID:
C1868258
Disease or Syndrome
Neuroblastoma, susceptibility to, 1
MedGen UID:
412713
Concept ID:
C2749485
Finding
Neuroblastoma, susceptibility to, 2
MedGen UID:
416607
Concept ID:
C2751682
Finding
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.\n\nIndividuals 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.\n\nNeuroblastoma occurs most often in children before age 5 and rarely occurs in adults.\n\nNeuroblastoma 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.
Neurofibromatosis-Noonan syndrome
MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.
Turcot syndrome
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
MedGen UID:
996383
Concept ID:
CN315811
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.

Recent clinical studies

Etiology

Sun Q, Chen Y, Jin Q, Yuan X
Eur J Pediatr 2022 Dec;181(12):4135-4147. Epub 2022 Sep 23 doi: 10.1007/s00431-022-04617-2. PMID: 36149505
Park JR, Villablanca JG, Hero B, Kushner BH, Wheatley K, Beiske KH, Ladenstein RL, Baruchel S, Macy ME, Moreno L, Seibel NL, Pearson AD, Matthay KK, Valteau-Couanet D
Cancer 2022 Nov 1;128(21):3775-3783. Epub 2022 Sep 13 doi: 10.1002/cncr.34445. PMID: 36101004Free PMC Article
Liu Y, Jia Y, Hou C, Li N, Zhang N, Yan X, Yang L, Guo Y, Chen H, Li J, Hao Y, Liu J
Comput Biol Med 2022 Oct;149:105980. Epub 2022 Aug 18 doi: 10.1016/j.compbiomed.2022.105980. PMID: 36001926
Fischer-Mertens J, Otte F, Roderwieser A, Rosswog C, Kahlert Y, Werr L, Hellmann AM, Berding M, Chiu B, Bartenhagen C, Fischer M
Cell Oncol (Dordr) 2022 Oct;45(5):991-1003. Epub 2022 Aug 12 doi: 10.1007/s13402-022-00702-8. PMID: 35953764Free PMC Article
Wang H, Chen X, Zhu J, Zhang K, Lu J, Zhang L, Ding H, He L
Abdom Radiol (NY) 2022 Oct;47(10):3520-3530. Epub 2022 Jul 5 doi: 10.1007/s00261-022-03596-0. PMID: 35790567

Diagnosis

Sun Q, Chen Y, Jin Q, Yuan X
Eur J Pediatr 2022 Dec;181(12):4135-4147. Epub 2022 Sep 23 doi: 10.1007/s00431-022-04617-2. PMID: 36149505
Costa A, Thirant C, Kramdi A, Pierre-Eugène C, Louis-Brennetot C, Blanchard O, Surdez D, Gruel N, Lapouble E, Pierron G, Sitbon D, Brisse H, Gauthier A, Fréneaux P, Bohec M, Raynal V, Baulande S, Leclere R, Champenois G, Nicolas A, Meseure D, Bellini A, Marabelle A, Geoerger B, Mechta-Grigoriou F, Schleiermacher G, Menger L, Delattre O, Janoueix-Lerosey I
J Immunother Cancer 2022 Aug;10(8) doi: 10.1136/jitc-2022-004807. PMID: 36054452Free PMC Article
Liu Y, Jia Y, Hou C, Li N, Zhang N, Yan X, Yang L, Guo Y, Chen H, Li J, Hao Y, Liu J
Comput Biol Med 2022 Oct;149:105980. Epub 2022 Aug 18 doi: 10.1016/j.compbiomed.2022.105980. PMID: 36001926
Wang H, Chen X, Zhu J, Zhang K, Lu J, Zhang L, Ding H, He L
Abdom Radiol (NY) 2022 Oct;47(10):3520-3530. Epub 2022 Jul 5 doi: 10.1007/s00261-022-03596-0. PMID: 35790567
Asgharzadeh S, Marachelian A, Villablanca JG, Liu WY, Kennedy R, Sposto R, Naranjo A, Tenney S, Yu AL, Ozkaynak MF, Sondel PM, Park JR, Seeger RC
Pediatr Blood Cancer 2022 Sep;69(9):e29719. Epub 2022 Apr 20 doi: 10.1002/pbc.29719. PMID: 35441784Free PMC Article

Therapy

Park JR, Villablanca JG, Hero B, Kushner BH, Wheatley K, Beiske KH, Ladenstein RL, Baruchel S, Macy ME, Moreno L, Seibel NL, Pearson AD, Matthay KK, Valteau-Couanet D
Cancer 2022 Nov 1;128(21):3775-3783. Epub 2022 Sep 13 doi: 10.1002/cncr.34445. PMID: 36101004Free PMC Article
Schmitt J, Schwenck J, Maurer A, Przybille M, Sonanini D, Reischl G, Wehrmüller JE, Quintanilla-Martinez L, Gillies SD, Krueger MA, Schaefer JF, la Fougère C, Handgretinger R, Pichler BJ
Theranostics 2022;12(13):5615-5630. Epub 2022 Jul 18 doi: 10.7150/thno.56736. PMID: 35966592Free PMC Article
Fischer-Mertens J, Otte F, Roderwieser A, Rosswog C, Kahlert Y, Werr L, Hellmann AM, Berding M, Chiu B, Bartenhagen C, Fischer M
Cell Oncol (Dordr) 2022 Oct;45(5):991-1003. Epub 2022 Aug 12 doi: 10.1007/s13402-022-00702-8. PMID: 35953764Free PMC Article
Salemi F, Alam W, Hassani MS, Hashemi SZ, Jafari AA, Mirmoeeni SMS, Arbab M, Mortazavizadeh SMR, Khan H
Eur J Pharmacol 2022 Jul 5;926:175030. Epub 2022 May 20 doi: 10.1016/j.ejphar.2022.175030. PMID: 35605657
Schraw JM, Rodriguez KB, Scheurer ME, Foster JH, Lupo PJ
Cancer Epidemiol 2022 Jun;78:102165. Epub 2022 Apr 23 doi: 10.1016/j.canep.2022.102165. PMID: 35472515

Prognosis

Sun Q, Chen Y, Jin Q, Yuan X
Eur J Pediatr 2022 Dec;181(12):4135-4147. Epub 2022 Sep 23 doi: 10.1007/s00431-022-04617-2. PMID: 36149505
Jiménez C, Antonelli R, Nadal-Ribelles M, Devis-Jauregui L, Latorre P, Solé C, Masanas M, Molero-Valenzuela A, Soriano A, Sánchez de Toledo J, Llobet-Navas D, Roma J, Posas F, de Nadal E, Gallego S, Moreno L, Segura MF
Mol Cancer 2022 Sep 3;21(1):175. doi: 10.1186/s12943-022-01643-4. PMID: 36057593Free PMC Article
Costa A, Thirant C, Kramdi A, Pierre-Eugène C, Louis-Brennetot C, Blanchard O, Surdez D, Gruel N, Lapouble E, Pierron G, Sitbon D, Brisse H, Gauthier A, Fréneaux P, Bohec M, Raynal V, Baulande S, Leclere R, Champenois G, Nicolas A, Meseure D, Bellini A, Marabelle A, Geoerger B, Mechta-Grigoriou F, Schleiermacher G, Menger L, Delattre O, Janoueix-Lerosey I
J Immunother Cancer 2022 Aug;10(8) doi: 10.1136/jitc-2022-004807. PMID: 36054452Free PMC Article
Liu Y, Jia Y, Hou C, Li N, Zhang N, Yan X, Yang L, Guo Y, Chen H, Li J, Hao Y, Liu J
Comput Biol Med 2022 Oct;149:105980. Epub 2022 Aug 18 doi: 10.1016/j.compbiomed.2022.105980. PMID: 36001926
Asgharzadeh S, Marachelian A, Villablanca JG, Liu WY, Kennedy R, Sposto R, Naranjo A, Tenney S, Yu AL, Ozkaynak MF, Sondel PM, Park JR, Seeger RC
Pediatr Blood Cancer 2022 Sep;69(9):e29719. Epub 2022 Apr 20 doi: 10.1002/pbc.29719. PMID: 35441784Free PMC Article

Clinical prediction guides

Sun Q, Chen Y, Jin Q, Yuan X
Eur J Pediatr 2022 Dec;181(12):4135-4147. Epub 2022 Sep 23 doi: 10.1007/s00431-022-04617-2. PMID: 36149505
Fischer-Mertens J, Otte F, Roderwieser A, Rosswog C, Kahlert Y, Werr L, Hellmann AM, Berding M, Chiu B, Bartenhagen C, Fischer M
Cell Oncol (Dordr) 2022 Oct;45(5):991-1003. Epub 2022 Aug 12 doi: 10.1007/s13402-022-00702-8. PMID: 35953764Free PMC Article
Wang H, Chen X, Zhu J, Zhang K, Lu J, Zhang L, Ding H, He L
Abdom Radiol (NY) 2022 Oct;47(10):3520-3530. Epub 2022 Jul 5 doi: 10.1007/s00261-022-03596-0. PMID: 35790567
Binlateh T, Reudhabibadh R, Prommeenate P, Hutamekalin P
Toxicol In Vitro 2022 Sep;83:105410. Epub 2022 Jun 5 doi: 10.1016/j.tiv.2022.105410. PMID: 35675846
Asgharzadeh S, Marachelian A, Villablanca JG, Liu WY, Kennedy R, Sposto R, Naranjo A, Tenney S, Yu AL, Ozkaynak MF, Sondel PM, Park JR, Seeger RC
Pediatr Blood Cancer 2022 Sep;69(9):e29719. Epub 2022 Apr 20 doi: 10.1002/pbc.29719. PMID: 35441784Free PMC Article

Recent systematic reviews

Westerveld ASR, van Dalen EC, Asogwa OA, Koopman MMW, Papadakis V, Laureys G, van der Pal HJH, Kremer LCM, Tytgat GAM, Teepen JC
Cancer Treat Rev 2022 Mar;104:102355. Epub 2022 Feb 7 doi: 10.1016/j.ctrv.2022.102355. PMID: 35158111
Karalexi MA, Katsimpris A, Panagopoulou P, Bouka P, Schüz J, Ntzani E, Petridou ET; NARECHEM-ST collaborating group.
Cancer Epidemiol 2022 Apr;77:102055. Epub 2022 Jan 11 doi: 10.1016/j.canep.2021.102055. PMID: 35026707
Khan A, Feulefack J, Sergi CM
Environ Toxicol Pharmacol 2022 Feb;90:103790. Epub 2021 Dec 22 doi: 10.1016/j.etap.2021.103790. PMID: 34954124
Martos M, Cano P, Molino JA, López-Fernández S, Hladun R, López M, Guillén G
Clin Transl Oncol 2022 May;24(5):950-957. Epub 2021 Oct 30 doi: 10.1007/s12094-021-02724-4. PMID: 34718957
Parhar D, Joharifard S, Lo AC, Schlosser MP, Daodu OO
Pediatr Surg Int 2020 Aug;36(8):897-907. Epub 2020 Jun 12 doi: 10.1007/s00383-020-04696-y. PMID: 32533235

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