Hepatocellular carcinoma (HCC) has limited treatment options. Molecular analysis of its mutational landscape may enable the identification of novel therapies. However, biopsy is not routinely performed in HCC. The utility of analyzing cell-free circulating tumor DNA (ctDNA) by next-generation sequencing (NGS) is not established. We performed 32 ctDNA NGS analyses on 26 patients; 10 of these patients had tissue NGS (236 to 626 genes). ctDNA was evaluated using an assay that detects single nucleotide variants, amplifications, fusions, and specific insertion/deletion alterations in 54 to 70 genes. The ctDNA demonstrated that 23 of 26 patients (88.5%) had ≥1 characterized alteration, and all these individuals had ≥1 potentially actionable alteration. The most frequently mutated gene was (16 of 26 patients, 61.5%). There were 47 unique characterized molecular alterations among 18 total gene alterations [variants of unknown significance (VUS) excluded)]. ctDNA and tissue NGS frequently showed different profiles, perhaps due to length of time between tissue and blood samples [median = 370 days (range, 29 to 876 days)]. Serial ctDNA evaluation in an illustrative patient treated with capecitabine demonstrated emergence of a new alteration after progression. In conclusion, ctDNA profiling is feasible in advanced HCC, and serial assessment using ctDNA NGS can reveal genomic changes with time. NGS of ctDNA provides a minimally invasive alternative for identifying potentially actionable gene alterations and potential molecular targeted therapies. Dynamic changes in molecular portfolio associated with therapeutic pressure in difficult-to-biopsy patients can be observed. .
Acne is the most common skin condition observed in adolescent and preadolescent patients. Pediatric providers are on the forefront of managing the disease, often as a secondary concern in a busy practice. Therefore, every provider needs to have an acne treatment plan that is effective, easy to communicate, and simple to follow. This article provides treatment rationale and guidelines-based recommendations for the initial treatment of acne, tips for troubleshooting any side effects, and a plan for subsequent follow-up to maintain good control.
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Pediatr Ann
. 2020;49(3):e109–e115.]
Angiosarcoma is a rare malignant entity that typically presents as a rapidly progressing ecchymotic or cellulitis-like lesion with subsequent bleeding or ulceration. Atypical presentations have been described, such as cases mimicking rosacea, making the diagnosis more challenging. Due to the high rate of local recurrence, metastasis, and disease-specific mortality, early identification and treatment is critical. Here we describe a 69-year-old man with a vascular targetoid lesion clinically consistent with a targetoid hemosiderotic hemangioma (THH); however, biopsy was consistent with an angiosarcoma. Early diagnosis of this lesion resulted in prompt wide local excision and no detection of metastasis. This case report highlights the importance of thorough evaluation of new onset vascular lesions and the unique THH-like presentation of an angiosarcoma.
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