Medicine
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Case Reports
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.
Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARα fusion gene. Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia. Here we reported 1 patient with APL with CHST3 mutations. ⋯ This case describes a patient with APL with complex heterozygous mutations on CHST3. Carbohydrate sulfotransferases were found to play an important role in metastatic spread of tumor cells. Whether the mutation status of CHST3 gene has relationship with APL pathogenesis and prognosis is unknown.
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Calcific myonecrosis is a very rare late sequela that occurs in patients who have had trauma accompanied by vascular compromise, in which a single muscle or entire muscles in a compartment undergoes necrosis and form a calcified mass. It is mostly a benign entity, but some cases cause bone destruction and form non-healing chronic sinuses. In such cases, wound management becomes difficult and there is a potential risk of secondary infection. ⋯ Calcific myonecrosis is mostly a benign entity, but some cases of calcific myonecrosis cause bone destruction and form non-healing chronic sinuses. In such cases, surgical treatment is required, during which the necrotic tissue and calcific material must be extensively debrided and drained.
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Case Reports
Lumbar intraspinal microcystic/reticular schwannoma: Case report and literature review.
Microcystic/reticular schwannoma (MRS) is a rare histological variant of schwannoma which was initially described in 2008 with a predilection for the visceral organs. This distinct tumor had been reported to mainly affect gastrointestinal tract, subcutaneous and soft tissue, various glands and head and neck region. However, MRS involving spine is extremely rare. ⋯ This is the first case of MRS which is located in the L spinal canal. Awareness of this distinctive entity is helpful in preventing diagnostic pitfalls and making correct treatment strategies.
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Since endoscopic submucosal dissection (ESD) has been accepted as the treatment of choice for early gastric cancer (EGC) without risk of lymph node metastasis, synchronous gastric epithelial neoplasia is no longer rare in the clinical practice. Knowledge about the characteristics associated with synchronous gastric epithelial neoplasia is of great importance to prevent delayed diagnosis. Between November 2008 and December 2014, a retrospective study was conducted in a single tertiary referral hospital. ⋯ Age of ≥ 65 years, moderate to severe endoscopic atrophic gastritis, and elevated morphology of primary lesions were associated with synchronous gastric epithelial neoplasia. An important factor associated with overlooked lesions is the non-elevated morphology of lesions. Careful endoscopic examination of the whole stomach is necessary in patients who are older and who have moderate to severe atrophic gastritis and elevated morphology of lesions to prevent delayed diagnosis of synchronous gastric epithelial neoplasia, especially non-elevated lesions.
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Familial hydatidiform mole is extremely rare while familial gestational trophoblastic neoplasia (GTN) has never been reported. Inspired by 2 biological sisters with postmolar GTN and liver toxicity, we reviewed susceptible maternal-effect genes and explored the role of possible drug transporter genes in the development of GTN. ⋯ We speculated that the known or unknown NLRP7 and KHDC3L mutations might be correlated with drug disposition in liver while liver drug transporters such as P-glycoprotein family that are also expressed in trophoblasts might be correlated to GTN susceptibility. Future genomic profiles of large samples alike using next generation sequencing are needed to confirm our hypothesis and discover yet unknown genes.