BACKGROUND Hereditary diffuse gastric cancer(HDGC)is a familial cancer syndrome often associated with germline mutations in the CDH1 gene.However,the frequency of CDH1 mutations is low in patients with HDGC in East As...BACKGROUND Hereditary diffuse gastric cancer(HDGC)is a familial cancer syndrome often associated with germline mutations in the CDH1 gene.However,the frequency of CDH1 mutations is low in patients with HDGC in East Asian countries.Herein,we report three cases of HDGC harboring a missense CDH1 variant,c.1679C>G,from a single Japanese family.CASE SUMMARY A 26-year-old female(Case 1)and a 51-year-old male(father of Case 1),who had a strong family history of gastric cancer,were diagnosed with advanced diffuse gastric cancer.After genetic counselling,a 25-year-old younger brother of Case 1 underwent surveillance esophagogastroduodenoscopy that detected small signet ring cell carcinoma foci as multiple pale lesions in the gastric mucosa.Genetic analysis revealed a CDH1 c.1679C>G variant in all three patients.CONCLUSION It is important for individuals suspected of having HDGC to be actively offered genetics evaluation.This report will contribute to an increased awareness of HDGC.展开更多
BACKGROUND Reports of mucormycosis,an infectious disease that commonly affects immunocompromised individuals,have increased during the ongoing coronavirus disease 2019(COVID-19) pandemic.Disseminated mucormycosis asso...BACKGROUND Reports of mucormycosis,an infectious disease that commonly affects immunocompromised individuals,have increased during the ongoing coronavirus disease 2019(COVID-19) pandemic.Disseminated mucormycosis associated with COVID-19 is rare but fatal and is characterized by an aggressive clinical course and delayed diagnosis.Our report documents a case of disseminated mucormycosis after COVID-19 infection.This is a rare pathological autopsy report on COVID-19-associated mucormycosis.CASE SUMMARY A 58-year-old man was transferred to our hospital with severe COVID-19 pneumonia.During treatment for acute respiratory distress syndrome,he developed intra-abdominal bleeding that required a right hemicolectomy and ileostomy for hemostasis.The ileostoma and surgical wound developed necrosis followed by sepsis and multi-organ failure,which led to death.An autopsy revealed multiple thrombi associated with Rhizopus oryzae infection,which led to the necrosis of multiple infected organs.CONCLUSION Early suspicion and diagnosis followed by treatment are keys to better outcomes of mucormycosis in patients with severe COVID-19.展开更多
文摘BACKGROUND Hereditary diffuse gastric cancer(HDGC)is a familial cancer syndrome often associated with germline mutations in the CDH1 gene.However,the frequency of CDH1 mutations is low in patients with HDGC in East Asian countries.Herein,we report three cases of HDGC harboring a missense CDH1 variant,c.1679C>G,from a single Japanese family.CASE SUMMARY A 26-year-old female(Case 1)and a 51-year-old male(father of Case 1),who had a strong family history of gastric cancer,were diagnosed with advanced diffuse gastric cancer.After genetic counselling,a 25-year-old younger brother of Case 1 underwent surveillance esophagogastroduodenoscopy that detected small signet ring cell carcinoma foci as multiple pale lesions in the gastric mucosa.Genetic analysis revealed a CDH1 c.1679C>G variant in all three patients.CONCLUSION It is important for individuals suspected of having HDGC to be actively offered genetics evaluation.This report will contribute to an increased awareness of HDGC.
文摘BACKGROUND Reports of mucormycosis,an infectious disease that commonly affects immunocompromised individuals,have increased during the ongoing coronavirus disease 2019(COVID-19) pandemic.Disseminated mucormycosis associated with COVID-19 is rare but fatal and is characterized by an aggressive clinical course and delayed diagnosis.Our report documents a case of disseminated mucormycosis after COVID-19 infection.This is a rare pathological autopsy report on COVID-19-associated mucormycosis.CASE SUMMARY A 58-year-old man was transferred to our hospital with severe COVID-19 pneumonia.During treatment for acute respiratory distress syndrome,he developed intra-abdominal bleeding that required a right hemicolectomy and ileostomy for hemostasis.The ileostoma and surgical wound developed necrosis followed by sepsis and multi-organ failure,which led to death.An autopsy revealed multiple thrombi associated with Rhizopus oryzae infection,which led to the necrosis of multiple infected organs.CONCLUSION Early suspicion and diagnosis followed by treatment are keys to better outcomes of mucormycosis in patients with severe COVID-19.
