Top 5 Most-Read Rare Disease Articles of 2022

The top 5 most-read articles about rare diseases on AJMC.com this year explored new findings such as updated pediatric central nervous system (CNS) tumor guidelines, the role of gene variation in pediatric neuropsychiatric conditions, and the potential for longer survival for those with blast-phase chronic myeloid leukemia (BP-CML).

Here are the most-read rare disease articles of 2022.

5. NCCN Publishes Guidelines for Deadly Pediatric CNS Tumors

The World Health Organization recommended CNS tumor classification to include a treatment protocol for pediatric patients with CNS tumors. The National Comprehensive Cancer Network (NCCN) proposed a structure in which histologic, immunohistochemical, and molecular examination methods will be used because underlying molecular alterations in pediatric cases are different than those in adult cases. In children, these tumors contribute to the largest cancer-related fatality rate.

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4. GVHD May Mimic Eosinophilic GI Disorders Following Bone Marrow Transplant

A 12-year-old male patient with graft versus host disease (GVHD) was originally thought to have eosinophilic gastroenteritis after a bone marrow transplant (BMT) at 5 years old. GVHD was discovered to possibly mimic eosinophilic gastrointestinal disorders after BMT. The symptoms the patient experienced were nonspecific, which made the root cause difficult to determine.

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3. Risk of Pediatric Neuropsychiatric Conditions Linked to Rare Genomic Variants, Intellectual Disability

Genomic variants connected to intellectual disability can be identified with next-generation sequencing. A national cohort study completed in the United Kingdom demonstrated that children with intellectual disabilities can develop other neurodevelopmental or mental health conditions. Early genetic testing can catch these conditions and provide an earlier treatment intervention.

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2. Vitamin D May Affect GVHD Rates in Stem Cell Transplantation, Review Finds

Vitamin D showed some evidence as a low-risk prophylactic for GVHD in patients undergoing allogeneic hematopoietic stem cell transplantation. Patients undergoing stem cell transplantation in particular seemed to be susceptible to vitamin D deficiency, and studies were conducted to see if increasing vitamin D levels ideally affected GVHD rates. Results were mixed, but it is possible for vitamin D to decrease chronic GVHD risk, the researchers concluded.

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1. Ponatinib, High-Dose Chemo Combo Likely to Benefit High-risk BP-CML

Usually with a less than 1 year survival rate, there is a demonstrable need for effective treatments for patients with blast-phase chronic myeloid leukemia (BP-CML). A new combination treatment can help these patients go into remission and survive long term. The findings were presented at the 2021 American Society of Hematology Annual Meeting & Exposition. The tyrosine kinase inhibitor ponatinib in combination with high-dose chemotherapy holds the promise of a longer survival rate.

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