Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Li Fraumeni Syndrome (LFS) is a rare autosomal disorder characterized by a familial clustering of tumors. Analysis of several series of LFS families have shown that 70% of such families are attributable to germ-line mutations in TP53. We report the case of a patient who had a first degree family antecedent of cancer in young ages. At the age of 31 years, the patient was operated of bladder papillary superficial carcinoma; five years later, he was treated for a high grade pleomorphe sarcoma of the left thigh and treated by surgery, adjuvant chemotherapy and radiotherapy. At the age of 38 years, after abdominal pain, radiologic examination reveled pancreatic tumor with bone and lymphatic metastases. The patient died one month later from pulmonary embolism. Sequencing revealed a germiline mutation of this patient that was confirmed in a member of his family in codon 1009C>T, protein Arg337Cys, exon 10 of TP53 gene this mutation was revealed in his nephew (died at the age of 20 from bone sarcoma).
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PMID:[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. 2047 80

Lactic acidosis is a commonly observed clinical condition that is associated with a poor prognosis, especially in malignancies. We describe a case of an 81-year-old patient who presented with symptoms of tachypnea and general discomfort. Arterial blood gas analysis showed a high anion gap acidosis with a lactate level of 9.5 mmol/L with respiratory compensation. CT scanning showed no signs of pulmonary embolism or other causes of impaired tissue oxygenation. Despite treatment with sodium bicarbonate, the patient developed an adrenalin-resistant cardiac arrest, most likely caused by the acidosis. Autopsy revealed Gleason score 5 + 5 metastatic prostate cancer as the most probable cause of the lactic acidosis. Next-generation sequencing indicated a nonsense mutation in the TP53 gene (887delA) and an activating mutation in the PIK3CA gene (1634A>G) as candidate molecular drivers. This case demonstrates the prevalence and clinical relevance of metabolic reprogramming, frequently referred to as "the Warburg effect," in patients with prostate cancer.
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PMID:Lactic Acidosis in Prostate Cancer: Consider the Warburg Effect. 2951