Inherited bone marrow failure syndromes (IBMFS) are rare cancer predisposition syndromes with an especially high risk of transformation to myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML). We performed a retrospective systematic review of reported MDS/AML arising in the eight most common IBMFS to determine the frequency and outcome of chromosome 7 abnormalities. We identified 738 MDS/AML cases of 4,293 individuals. Monosomy 7 or del (7q) occurred in ~17%. Greater understanding of the roles played by sequential acquisition of genetic and cytogenetic changes will provide insights into myeloid leukemogenesis and improve the surveillance and hopefully outcomes for individuals with IBMFS.
Background and study aims
Endoscopic retrograde cholangiopancreatography (ERCP) in patients with a preexisting duodenal stent is particularly challenging and has a low success rate. Endoscopic ultrasound (EUS)-guided biliary drainage (EUS-BD) has been increasingly used as an alternative to percutaneous transhepatic biliary drainage after failed ERCP. EUS-guided choledochoduodenostomy (EUS-CD) and EUS-guided hepaticogastrostomy (EUS-HGS) have been reported to have similar efficacity. Recently, a novel dedicated fully-covered lumen-apposing metal stent (LAMS) has been developed for EUS-CD (Hot AXIOS; Boston Scientific, Massachusetts, United States). It seems that this new device decreases the morbidity of EUS-CD. We present a case in which EUS-CD with LAMS through an uncovered metal duodenal stent was used successfully.
Choriocarcinoma, a nonseminomatous germ cell tumor, is a rare type of testicular malignancy that tends to occur in young males. It is, however, exceedingly rare for choriocarcinoma to involve the GI tract. In this article, we present a rare case of a 31-year-old male, diagnosed with choriocarcinoma of the left testes, along with several metastases to distant sites. The patient presented with headaches and severe lower GI bleeding due to metastases to the GI tract, which was eventually controlled with systemic chemotherapy, while requiring several units of packed RBCs during his admission to the hospital. An extensive literature review found very few cases of the occurrence of GI bleeding as a consequence of choriocarcinoma due to metastases to the GI tract.
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