{"doi":"10.1002/pbc.31013","title":"Neonatal rhabdoid tumor presenting as feeding intolerance and vomiting: A case report","abstract":"drome, RTPS2, occurs secondary to heterozygous germline mutations in SMARCA4 (5%-15% of cases), which encodes BRG1.Greater than 50% of SMARCA4-mutated tumors are in the cerebellum; when found outside of the central nervous system, small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common tumor associated with this mutation. 2Hasselblatt et al. demonstrated that six of seven SMARCA4-mutated atypical teratoid/rhabdoid tumors (AT/RT) were secondary to germline mutations versus nine of 33 SMARCB1mediated AT/RT. 3 Furthermore, SMARCA4 mutations carry a worse prognosis, with survival rates of 3 months compared to 24 months for SMARCB1. 4 The variant in the presented patient has a thymine residue replacing a cytosine at the 490th position, leading to a premature stop codon, rendering the protein non-functional.Mutations in SMARCA4 result in several different aggressive malignancies; however, the mutation presented in this patient appears particularly aggressive compared to others reported in the literature, with presentation often occurring in preschool age children, with an average age of 47.7 (range: 0.06-199) months at presentation. 5 Given the rarity of these tumors, there is no standard treatment algorithm, but there is agreement that intensive surveillance is needed at birth, with management coming in the form of debulking surgery, chemotherapy, and radiotherapy. 1,2Prophylactic bilateral oophorectomy is also suggested, given the association of SMARCA4 mutations with SCCOHT. 6In general, those with rhabdoid tumor predisposition syndrome 2 (RTPS2) inherit a pathologic variant from an unaffected parent, resulting in a 50% chance of inheritance.Despite this, there is incomplete penetrance, and tumors can vary widely within the same family. 2is case represents a rare case of bilious emesis in a newborn secondary to SMARCA4-mediated malignant rhabdoid tumor, leading to small bowel obstruction, abdominal compartment syndrome, rapid disease progression, and ultimately neonatal demise.Following prompt exclusion of malrotation with midgut volvulus and other common etiologies of bilious emesis in the newborn, consideration of malignant causes is warranted.Alterations in SMARCA4 must be considered when integrase interactor 1 (INI1) is maintained; in this case, Brahma-related protein 1 (BRG1) expression was lost, indicating loss of SMARCA4.","journal":"Pediatric Blood & Cancer","year":2024,"id":483239,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9486,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1189140,"name":"Devashish Joshi","orcid":"0000-0003-1541-9536","position":1,"is_corresponding":false},{"id":1155123,"name":"Cathy Lee‐Miller","orcid":"0000-0002-2354-3484","position":2,"is_corresponding":false},{"id":331392,"name":"Adam S. Brinkman","orcid":"0000-0002-8868-2290","position":3,"is_corresponding":false},{"id":1189141,"name":"Michael Stellon","orcid":"0000-0002-0682-6714","position":0,"is_corresponding":true}],"reference_count":6,"raw_metadata":null,"created_at":"2026-07-19T02:07:22.248464Z","pmid":"38605545","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}