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how disease progression changes operative thresholds in men1 a case based management review
Original title: “How Disease Progression Changes Operative Thresholds in MEN1: A Case-Based Management Review.”
genetic architecture of chronic cough from sensory hypersensitivity to treatable trait
Original title: “The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait.”
de novo fus frameshift variant p gly501valfs 30 presenting with tremor and prominent extrapyramidal features in young onset motor neuron disease a case report
Original title: “A de novo FUS frameshift variant (p.Gly501Valfs*30) presenting with tremor and prominent extrapyramidal features in young-onset motor neuron disease: a case report.”
car t and gvhd have we engineered gvhd out of allogeneic car t therapy
Original title: “CAR-T and GvHD: Have We Engineered GvHD Out of Allogeneic CAR‑T Therapy?”
malignant seeding to the trachea and tracheostomy site a case report and literature review
Original title: “Malignant Seeding to the Trachea and Tracheostomy Site: A Case Report and Literature Review.”
presumptive ewing sarcoma of the jejunum presenting with metastatic disease a case report and focused narrative review
Original title: “Presumptive Ewing Sarcoma of the Jejunum Presenting with Metastatic Disease: A Case Report and Focused Narrative Review.”
Spira notes that sarcoma is extremely rare and only affects roughly 10,000 patients annually in the US, a population further fragmented across numerous distinct subtypes. That scarcity, combined with the disease's molecular diversity, makes it difficult to design clinical trials and has slowed the broader treatment advances seen in more common cancers. Biomarker-driven therapy ... Spira notes that sarcoma is extremely rare and only affects roughly 10,000 patients annually in the US, a population further fragmented across numerous distinct subtypes. That scarcity, combined with the disease's molecular diversity, makes it difficult to design clinical trials and has slowed the broader treatment advances seen in more common cancers. Biomarker-driven therapy remains an area of unmet need, according to Spira. Even so, he recommends that all patients undergo full next-generation sequencing (NGS) panels, since testing can still uncover rare, targetable mutations or identify eligibility for a relevant clinical trial, even in the absence of an approved companion therapy. Spira also points to a persistent gap in physician comfort treating sarcoma. Because the disease is uncommon, many oncologists rarely encounter it and may be uncertain about how to proceed when they do. Sarcoma's rarity and molecular diversity complicate trial design. Alexander Spira, MD, PhD, FACP, FASCO discusses biomarker testing, NGS panels, and referral gaps. Spira's remarks raise considerations around coverage for NGS testing in a rare cancer with few approved biomarker-driven therapies, as well as the importance of referral networks and physician education in ensuring patients with sarcoma can access appropriately experienced care regardless of where they are first seen. Stay ahead of policy, cost, and value—subscribe to AJMC for expert insights at the intersection of clinical care and health economics.
Original title: “Sarcoma's Rarity Limits Trials and Biomarker-Driven Treatment Options: Alexander Spira, MD, PhD, FACP, FASCO | AJMC”
novel splice site variants in gba1 are associated with gaucher disease and genotype phenotype correlations
Original title: “Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.”
multimodality imaging diagnosis of congenital absence of the right sided pericardium presenting with pseudo ischemic chest pain a radiology focused case report
Original title: “Multimodality imaging diagnosis of congenital absence of the right-sided pericardium presenting with pseudo-ischemic chest pain: A radiology-focused case report.”
hemorrhagic hepatocellular carcinoma managed with urgent transarterial particle embolization a case report
Original title: “Hemorrhagic hepatocellular carcinoma managed with urgent transarterial particle embolization: A case report.”
raccoon eye as the sole presenting sign of al amyloidosis associated with a low burden clonal plasma cell neoplasm
Original title: “Raccoon eye as the sole presenting sign of AL amyloidosis associated with a low-burden clonal plasma cell neoplasm.”
tumor necrosis is associated with an increased metastatic and cardiovascular risk in paragangliomas a single center series and meta analysis comparing necrosis and cystic degeneration in paragangliomas
Original title: “Tumor Necrosis is Associated with an Increased Metastatic and Cardiovascular Risk in Paragangliomas: A Single-Center Series and Meta-Analysis Comparing Necrosis and Cystic Degeneration in Paragangliomas.”
integrating lna qpcr and full length smn1 sequencing for precision sma carrier screening large scale validation in 30 849 individuals
Original title: “Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.”
prognostic value of cmr late gadolinium enhancement in phospholamban p arg14del positive individuals
Original title: “Prognostic Value of CMR Late Gadolinium Enhancement in Phospholamban p.(Arg14del)-Positive Individuals.”
molecular characterization of fam222b as a novel disease gene for dominant cardiovascular laterality defects
Original title: “Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.”
clinical and molecular spectrum of ago2 associated lessel kreienkamp neurodevelopmental syndrome
Original title: “The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.”
genetics in heterotaxy a case series and literature review on dnah9 pkd1l1 mmp21 and gdf1
Original title: “Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.”
risk of transmission of amyloid pathology via transfused blood products
Original title: “Risk of transmission of amyloid β pathology via transfused blood products.”