Articles related to RARE DISEASES

Amar Gajjar, MD, who serves as the co-chair of the oncology department and chair of the pediatric medicine department at St. Jude Children’s Research Hospital in Memphis, Tennessee, answers questions from our friends at Cancer Therapy Advisor. Proton therapy, conventional chemotherapy, targeted therapies, and observed glioma progression are all topics covered by Dr. Gajjar when talking about treatment options for pediatric low-grade gliomas (pLGG) that have relapsed or progressed.

The phase 1 EXPLORER and phase 2 PATHFINDER trials demonstrated that avapritinib can produce complete and long-lasting clinical responses as well as molecular remission in KIT D816V patients. The complex mutational landscape of AdvSM, which is frequently associated with a hematologic neoplasm, poses significant management challenges.

A quartet of current clinical trials involving first-in-class molecules and CRISPR gene editing show great promise. STELLAR investigates a fusion protein in PAH, CodeBreak 200 studies a first-in-class of KRAS inhibitor, EMERGENT-2 focuses on a new treatment for schizophrenia, and NCT04601051 studies a gene editing drug for one form of amyloidosis.

HBCLs, not-otherwise specified (NOS), are rare and heterogeneous; other than having germinal center B-cell phenotype, and in up to 45%, a single-hit MYC rearrangement, they have no unifying immunophenotypic or cytogenetic characteristics. This review discusses the current clinicopathologic concept of HGBL, NOS, and looks at potential future taxonomy enrichments based on emerging molecular diagnostics.

Memorial Sloan Kettering oncologist Raajit Rampal presents a case report, discusses the rationale for the few treatment options available, and summarizes the 5-year follow-up data for the RESPONSE and RESPONSE 2 trials.

Physicians commonly encounter patients with facial pigmented macules. In this patient, the diagnosis was Carney complex.