Patients with coincident AIH and NASH were more likely to present with cirrhosis and more likely to develop adverse clinical outcome with decreased survival as compared to AIH-only patients. These findings suggest that simultaneous exposure confers a clinically significant increased risk, which may warrant closer follow-up and surveillance.
We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia. Review of the literature yielded a total of 11 previous cases. This gene fusion results in a t(5;12)(q31~33;p13) that mimics the t(5;12) found in ETV6-PDGFRB neoplasms. Identification of the fusion genes involved in t(5;12) in eosinophilia-associated myeloproliferative disorders is crucial to direct an effective treatment plan. In particular, while tyrosine kinase inhibitor therapy is effective in patients with PDGFRB rearrangement, there is little information on imatinib efficacy in patients with ETV6-ACSL6 gene fusion. Our patient was found to be nonresponsive to imatinib therapy.
We describe the case of an 18-year-old male Army reservist presenting with left lower extremity pain for which he was initially diagnosed with a stress injury. After failing conservative treatment, a radiograph was obtained showing a "lacelike" appearance of the medullary bone in the foot and ankle. Magnetic resonance imaging subsequently demonstrated widespread polyostotic marrow replacement with coarsened trabeculations. A biopsy was obtained which diagnosed the patient with polyostotic epithelioid hemangioendothelioma which is the most common malignant vascular tumor of bone. The patient ultimately underwent a below the knee amputation once computed tomography of the chest, abdomen, and pelvis excluded distant metastatic disease. It is important for radiologists to be aware of this diagnosis because osseous epithelioid hemangioendothelioma can present like a stress injury and be mistaken for a less serious diagnosis while potentially having visceral involvement.
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