Patient: Female, 21Final Diagnosis: Unresectable liver adenomatosis associated with congenital absence of portal veinSymptoms: —Medication: —Clinical Procedure: Living donor liver transplantationSpecialty: TransplantologyObjective:Rare diseaseBackground:Abernethy malformation (AM), or congenital absence of portal vein (CAPV), is a very rare disease which tends to be associated with the development of benign or malignant tumors, usually in children or young adults.Case Report:We report the case of a 21-year-old woman diagnosed with type Ib AM (portal vein draining directly into the inferior vena cava) and unresectable liver adenomatosis. The patient presented mild liver dysfunction and was largely asymptomatic. Living donor liver transplantation was performed using a left hemiliver graft from her mother. Postoperatively, the patient attained optimal liver function and at 9-month follow-up has returned to normal life.Conclusions:We consider that living donor liver transplantation is the best therapeutic solution for AM associated with unresectable liver adenomatosis, especially because compared to receiving a whole liver graft, the waiting time on the liver transplantation list is much shorter.
This study is aimed at investigating tumoral and inflammatory cells and the significance of the prognostic factors of pancreatic ductal adenocarcinoma (PDAC); it is also aimed at determining the role of immunohistochemistry in the diagnosis and prognosis of this neoplasm. Materials and Methods. 230 cases of pancreatic ductal adenocarcinoma were included in the study group; these cases were selected from the archives of the Department of Pathology of the Fundeni Clinical Institute over a ten-year period. Immunohistochemistry was performed using the following antibodies: MUC 1, CD 34, Factor VIII, CD 68, MMP-7, CEA, p21, p53, and Ki 67. Results. There were 133 male (57.8%) and 97 female (42.2%) patients included in this study, with ages between 20 and 81 years old (mean age: 58.2 years) and with tumors located in the pancreatic head ( n = 196 ; 85.2%), pancreatic body ( n = 12 ; 5.2%), and pancreatic tail ( n = 20 , 8.7%), as well as panpancreatic tumors ( n = 2 ; 0.9%). Patients presented with early stages (IA and IB), with low pathologic grade (G1), with small size tumors (less than 1-1.5 cm), with tumors located in the head of the pancreas, (p53: negative; p21: positive; and CD 68: positive in peritumoral tissue), with low nuclear index ( Ki 67 < 10 % ), without metastases at the time of surgery (had a better prognosis), and with a survival rate of about 7 months. Conclusions. Immunohistochemistry is useful for an accurate diagnosis, differential diagnosis, and establishment of additional factors that might have a prognostic importance. It is recommended to study peritumoral tissue from the quantitative and qualitative points of view to increase the number of prognostic factors. This study represents a multidisciplinary approach, and it is a result of teamwork; it presents histopathological methods of examination of this severe illness and describes only a part of the scientific effort to determine the main pathological mechanisms of this neoplasm.
Background: Most of the Gastrointestinal Stromal Tumors (GISTs) are determined by mutations in C-KIT or PDGFRA genes. Mutation type influences the clinical evolution and treatment response. Case reports: This study aims to present particular cases of GIST referred for molecular testing, diagnosed and treated in our institution. Results: We present three cases in which genetic testing was performed. The first patient was diagnosed in a short-time interval with two GISTs, a gastric and a jejunal one, both with low risk of recurrence. To establish the relationship between the two, molecular analysis was performed and the conclusion was that we were facing synchronous, sporadic GISTs, a very rare instance. The second case was a patient with liver metastases, 3 years earlier having been diagnosed with a high risk duodenal GIST. The genetic test revealed a mutational status conferring imatinib sensitivity and therefore imatinib was continued. The third case was a patient with an early recurrence in within less than a year after surgery for gastric GIST. Molecular testing identified a mutation associated with a bad clinical outcome. The patient died 2 years later from diagnosis by disease progression. Conclusion: Although rarely performed, genetic analysis provides useful information regarding the prognosis and the response to TKIs.
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