{ "@context": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057", "id": "CG-AC:AC1057", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "30318", "producedAtUTC": "Thu, 10 Sep 2026 20:44:34 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/co", "id": "CG-AC:AC1057/co", "type": "GeneticCondition", "label": "Susceptibility to neuroblastoma-3", "description": "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ou/Morbidity%20and%20mortality%20from%20neuroblastic%20tumors", "id": "CG-AC:AC1057/ou/Morbidity and mortality from neuroblastic tumors", "type": "Outcome", "label": "Morbidity and mortality from neuroblastic tumors" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/intv/Surveillance%20to%20identify%20tumor%20and%20guide%20multimodal%20treatment", "id": "CG-AC:AC1057/intv/Surveillance to identify tumor and guide multimodal treatment", "type": "Intervention", "label": "Surveillance to identify tumor and guide multimodal treatment" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/cap", "id": "CG-AC:AC1057/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Thu, 21 Nov 2024 00:00:00 -0000", "releaseNum": "1.0.0", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/en/cf", "id": "CG-AC:AC1057/en/cf", "type": "EvidenceNarrative", "narrative": "Individuals with ALK-related neuroblastic tumor susceptibility, one cause of familial neuroblastoma, are at risk of developing a spectrum of neuroblastic tumors that include neuroblastomas, ganglioneuroblastomas, andganglioneuromas. Neuroblastomas are a more malignant tumor and ganglioneuromas a more benign tumor. Depending on the histologic findings, ganglioneuroblastomas can behave in a more aggressive fashion, like neuroblastomas, or in a benign fashion, like ganglioneuromas. \n\nClinical presentation of neuroblastoma is variable and depends on the stage and location of the tumor, which can develop at any site in the sympathetic nervous system. Patients most commonly present with an abdominal mass or abdominal distension (80% of cases develop in the abdomen). At the time of diagnosis, metastatic forms represent about 50% of cases. The most frequent metastatic sites are bone marrow, bone, liver and skin. \n\nSigns and symptoms can include loss of appetite, weight loss, irritability, constipation, fever, hypertension, anemia, paralysis, bruising or swelling around the eyes, bone pain, and pancytopenia. \n\nIndividuals with familial neuroblastoma also have a higher-than-average incidence of multiple primary tumors. The multiple primary tumors may be bilateral adrenal tumors or multiple extra-adrenal tumors arising at sites of sympathetic ganglions. The tumors can occur either synchronously or metachronously.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF003784", "CG-AC:RF003786", "CG-AC:RF003787", "CG-AC:RF003788", "CG-AC:RF002008" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/en/nh", "id": "CG-AC:AC1057/en/nh", "type": "EvidenceNarrative", "narrative": "Risk for neuroblastic tumor development is highest in infancy (and can be present at birth and decreases by late childhood, with 98% of neuroblastic tumors occurring by age ten years. The median age at diagnosis for neuroblastomas that present clinically is approximately 20 months. 90% of cases are diagnosed before the age of five. \n\nLimited data suggest that health disparities due to race/ethnicity and socioeconomic status exist among patients with all causes of neuroblastoma. For example, a recent study found that the 5-year survival was higher for white (80.7%) or Hispanic (80.8%) patients with neuroblastoma compared with their Black counterparts (72.6%).\n\nIndividuals with familial neuroblastoma tend to develop tumors at a younger age (average age nine months) than those without familial predisposition (age two to three years). \n\nGiven the rarity of familial neuroblastic tumors, statistically significant long-term outcome data are not yet available for individuals with ALK-related neuroblastic tumor susceptibility. Although long-term survivors of neuroblastomas who are heterozygous for an inherited\ngermline ALK pathogenic variant have been reported, no prospective studies have evaluated the survival of persons with a germline ALK pathogenic variant compared to those with neuroblastomas not associated with a germline ALK pathogenic variant. Since neuroblastic tumor outcome is heavily dependent on biological characteristics and stage of the tumor, it is likely that survival from a neuroblastic tumor depends more on tumor type, tumor stage, and appropriate medical intervention than on the presence or absence of a germline ALK activating pathogenic variant.\n\nChildren under one year have a better prognosis than older children. Some tumors may even show spontaneous regression. Approximately half of newly diagnosed patients with neuroblastoma have non–high-risk disease. Patients with low- and intermediate-risk (ie non–high risk) neuroblastoma have excellent survival rates. Five-year survival rates are >95% for patients with low-risk neuroblastoma and approximately 90% to 95% for those with intermediate-risk neuroblastoma.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF003784", "CG-AC:RF003786", "CG-AC:RF003787", "CG-AC:RF002008" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/en/potgd", "id": "CG-AC:AC1057/en/potgd", "type": "EvidenceNarrative", "narrative": "Neuroblastoma is the most common extracranial solid tumor, representing 10% of solid tumors in infants and children under the age of 15 years. The prevalence is approximately 1 per 7000 live births. \n\nFamilial neuroblastoma occurs in approximately 1%-2% of all individuals with neuroblastoma.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF003784", "CG-AC:RF003785", "CG-AC:RF003786", "CG-AC:RF003787", "CG-AC:RF003788", "CG-AC:RF002008" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/en/ACMI2847", "id": "CG-AC:AC1057/en/ACMI2847", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF003787" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ten/NOI3040", "id": "CG-AC:AC1057/ten/NOI3040", "type": "TieredEvidenceNarrative", "narrative": "Biochemical and radiograph surveillance avoid the need for general anesthesia and minimize radiation exposure. Additional downstream interventions may include surgical resection, chemotherapy, HSCT, local radiotherapy.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF003784", "CG-AC:RF003786", "CG-AC:RF002008" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ten/RR2776", "id": "CG-AC:AC1057/ten/RR2776", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Information on relative risk was not available.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ten/ACPE4589", "id": "CG-AC:AC1057/ten/ACPE4589", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "2", "narrative": "The overall penetrance of a germline ALK pathogenic variant to develop one or more tumors in infancy or childhood is approximately 45-50%; this estimate is based upon a relatively small number of families overall.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003788", "CG-AC:RF002008" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ten/PGM3022", "id": "CG-AC:AC1057/ten/PGM3022", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Familial neuroblastoma occurs in approximately 1%-2% of all individuals with neuroblastoma. Of those familial cases, pathogenic variants in ALK account for 75%.\n\nSome individuals with ALK- related neuroblastic tumor susceptibility have the condition as the result of a de novo germline pathogenic variant.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF003786", "CG-AC:RF003787" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ten/EN3115", "id": "CG-AC:AC1057/ten/EN3115", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Some studies have reported associations between specific germline ALK pathogenic variants and risk of developing neuroblastomas or outcomes. For example, the pathogenic variant p.Arg1275Gln, found in approximately 45% of individuals with a germline ALK pathogenic variant, may be associated with somewhat decreased penetrance (40%) .", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF003787" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/ten/CDEC3087", "id": "CG-AC:AC1057/ten/CDEC3087", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "There are no specific clinical features that characterize neuroblastomas with a hereditary predisposition. \n\nMost neuroblastoma cases occur sporadically; routine germline testing for ALK pathogenic variants is not standard.\n\nContinued surveillance is recommended for children with a germline ALK pathogenic variant who were successfully treated for a neuroblastoma due to risk of developing multiple primary tumors.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF003787", "CG-AC:RF002008" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/tr/ACCA3759", "id": "CG-AC:AC1057/tr/ACCA3759", "type": "TieredRecommendation", "evidenceSourceTier": "Not provided", "recommendation": "No circumstances to avoid were identified.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/tr/ACPM6712", "id": "CG-AC:AC1057/tr/ACPM6712", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "The management of neuroblastoma and ganglioneuroblastoma are very complex. Treatment for these tumors may include: \n•Depending on age of affected person, tumor stage, & biologic characteristics, observation or surgical resection\n•Tumors w/risk for metastatic spread or those that have already metastasized require chemotherapy & sometimes radiation therapy, HSCT, and immunotherapy", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003787" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/tr/ACPM6713", "id": "CG-AC:AC1057/tr/ACPM6713", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Due to the complex nature of the disease, it is recommended that a multidisciplinary team be involved in making treatment decisions for patients with neuroblastoma. The team should include at a minimum: diagnostic radiologists, nuclear medicine physicians, interventional radiologists, surgeons, anatomic pathologists, molecular pathologists,\nradiation oncologists, and pediatric oncologists.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003786" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/tr/ACPM6710", "id": "CG-AC:AC1057/tr/ACPM6710", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "To establish the extent of disease and needs in an individual diagnosed with ALK-related neuroblastic tumor susceptibility, the following evaluations are recommended: \n•Physical exam to assess for clinical manifestations of neuroblastic tumors \n•Chest radiograph & abdominal ultrasound\n•Measurement of urine catecholamines (HVA & VMA)", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003787" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/tr/ACPM6711", "id": "CG-AC:AC1057/tr/ACPM6711", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "No clinical practice guidelines for ALK-related neuroblastic tumor susceptibility have been published. Neuroblastomas associated with ALK-related neuroblastic tumor susceptibility are currently managed in a similar fashion to sporadic neuroblastoma.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003788" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/tr/ACSU4058", "id": "CG-AC:AC1057/tr/ACSU4058", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Screening for individuals with germline pathogenic ALK variants consists of surveillance urine catecholamines (VMA, HVA) and abdominal ultrasounds, and chest radiograph every 3 months from birth (or as soon as the germline pathogenic variant is identified) to age 5, then every 6 months from age 6 to 10. No screening is recommended after age 10. In Japan, North America, and Europe, mass neuroblastoma screening of normal infants (by measuring urinary catecholamine metabolites) was shown to be effective for detecting neuroblastomas before they produced clinical symptoms. This resulted in a dramatically increased incidence of neuroblastoma in the screened population. There was some concern about the sensitivity of chest radiographs to detect small tumors", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF003788", "CG-AC:RF002008" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei", "id": "CG-AC:AC1057/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/nott", "id": "CG-AC:AC1057/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/pgd", "id": "CG-AC:AC1057/oei/pgd", "type": "EvidenceItem", "keyText": ">1-2 in 100", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC1057/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/cf", "id": "CG-AC:AC1057/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC1057/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/nh", "id": "CG-AC:AC1057/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC1057/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/tmc", "id": "CG-AC:AC1057/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/moi", "id": "CG-AC:AC1057/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC1057/en/ACMI2847" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/pgm", "id": "CG-AC:AC1057/oei/pgm", "type": "EvidenceItem", "keyText": ">1-2 in 100", "sourceOfPopulation": "General population", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1057/ten/PGM3022" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/pe/ACPE4589", "id": "CG-AC:AC1057/oei/pe/ACPE4589", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1057/ten/ACPE4589" } } ], "relativeRisk": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/rr/RR2776", "id": "CG-AC:AC1057/oei/rr/RR2776", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1057/ten/RR2776" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/oei/ex/EN3115", "id": "CG-AC:AC1057/oei/ex/EN3115", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1057/ten/EN3115" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei", "id": "CG-AC:AC1057/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/aoi", "id": "CG-AC:AC1057/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/noi/NOI3040", "id": "CG-AC:AC1057/iei/noi/NOI3040", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1057/ten/NOI3040" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/eoi", "id": "CG-AC:AC1057/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/pm/ACPM6711", "id": "CG-AC:AC1057/iei/pm/ACPM6711", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1057/tr/ACPM6711" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/pm/ACPM6710", "id": "CG-AC:AC1057/iei/pm/ACPM6710", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1057/tr/ACPM6710" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/pm/ACPM6713", "id": "CG-AC:AC1057/iei/pm/ACPM6713", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1057/tr/ACPM6713" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/pm/ACPM6712", "id": "CG-AC:AC1057/iei/pm/ACPM6712", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1057/tr/ACPM6712" } } ], "circumstanceToAvoid": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/cta/ACCA3759", "id": "CG-AC:AC1057/iei/cta/ACCA3759", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1057/tr/ACCA3759" } } ], "surveillance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/su/ACSU4058", "id": "CG-AC:AC1057/iei/su/ACSU4058", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1057/tr/ACSU4058" } } ] }, "conditionEscapeDetection": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/ced", "id": "CG-AC:AC1057/iei/ced", "type": "EvidenceLine", "chanceToEscapeDetection": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057/iei/cted/CDEC3087", "id": "CG-AC:AC1057/iei/cted/CDEC3087", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1057/ten/CDEC3087" } } ] } } }, "references": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002008", "id": "CG-AC:RF002008", "type": "Publication", "publicationType": "PMID", "citation": "Kamihara J, Bourdeaut F, Foulkes WD, Molenaar JJ, Mosse YP, Nakagawara A, Parareda A, Scollon SR, Schneider KW, Skalet AH, States LJ, Walsh MF, Diller LR, Brodeur GM. Retinoblastoma and Neuroblastoma Predisposition and Surveillance. Clin Cancer Res. (2017) 23(13):e98-e106.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=28674118", "xdbref": [ "PMID:28674118" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003784", "id": "CG-AC:RF003784", "type": "Publication", "publicationType": "Orphanet", "citation": "Neuroblastoma. Orphanet encyclopedia [Internet]", "xdbref": [ "Orphanet:635" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003785", "id": "CG-AC:RF003785", "type": "Publication", "publicationType": "OMIM", "citation": "Online Medelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. Anaplastic lymphoma kinase; alk. MIM: 1055902022 Dec 14. ", "webUrl": "https://www.omim.org/entry/105590", "xdbref": [ "OMIM:105590" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003786", "id": "CG-AC:RF003786", "type": "Publication", "publicationType": "Other", "citation": "true. Nccn clinical practice guidelines in oncology: neuroblastoma. Nccn clinical practice guidelines in oncology: neuroblastoma. (2024) ", "webUrl": "https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1520" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003787", "id": "CG-AC:RF003787", "type": "Publication", "publicationType": "Other", "citation": "true. Alk-related neuroblastic tumor susceptibility. Alk-related neuroblastic tumor susceptibility. (2024) ", "webUrl": "https://www.ncbi.nlm.nih.gov/books/NBK24599/" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003788", "id": "CG-AC:RF003788", "type": "Publication", "publicationType": "Other", "citation": "true. Pediatric solid tumors and associated cancer predisposition syndromes: workup, management, and surveillance. a summary from the apsa cancer committee. J pediatr surg. (2022) ", "webUrl": "https://pure.psu.edu/en/publications/pediatric-solid-tumors-and-associated-cancer-predisposition-syndr" } ] }