Hodgkin's lymphoma-related vanishing bile duct syndrome / Hodgkin-lymphomához társult eltunoepeút-szindróma.

Összefoglaló. Az eltunoepeút-szindróma ritka, rossz prognózisú kórkép. Az epeutak progresszív destrukciójával, az intrahepaticus epeutak eltunésével jár, epepangáshoz, biliaris cirrhosishoz, végül májelégtelenséghez vezet. A háttérben álló kiváltó okok között infekciók, ischaemia, gyógyszermellékhatások, illetve daganatos megbetegedések szerepelhetnek. A malignitások közül a leggyakrabban a Hodgkin-lymphomához társult formájával találkozhatunk. Cikkünkben egy fiatal, Hodgkin-lymphomás betegünk esetét szeretnénk bemutatni, akinél az icterus hátterében eltunoepeút-szindróma igazolódott, melyet egyéb okok kizárását követoen szövettani mintavétellel igazoltunk. A két ciklus ABVD-protokoll szerinti kezelést követo PET/CT az alapbetegség tekintetében komplett metabolikus remissziót igazolt. A klinikai javuláshoz azonban hosszú hónapokra volt szükség. Végül az epeúteltunés esetünkben reverzibilis folyamatnak bizonyult, az alapbetegség tekintetében a komplett metabolikus remisszió elérésével az epeút-károsodás megállítható volt. Orv Hetil. 2021; 162(22): 884-888. Summary. destruction and loss of the intrahepatic bile ducts leading to cholestatis, biliar chirrosis and finally liver failure. It has been described in different pathologic conditions including infections, ischemia, adverse drug reactions and malignancies. The Hodgkin's lymphoma-associated type occurs most frequently among the forms of the disease of malignant origin. In this report, we introduce the case of a 32-year-old male patient with Hodgkin's lymphoma, diagnosed with vanishing bile duct syndrome upon liver biopsy as a root cause behind his icterus. The PET/CT has proven complete metabolic remission after 2 cycles of ABVD chemoterapy. Clinical improvement, however, occurred only after several months. Finally the loss of bile ducts proved to be a reversible process, the complete metabolic remission of Hodgkin's lymphoma resulted in the regeneration of the bile ducts. Orv Hetil. 2021; 162(22): 884-888.

Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.

We report an unusual presentation of multiple endocrine neoplasia type 1 (MEN 1) in a young woman who was subsequently proven to have a novel mutation of the MEN1 gene. The young patient, aged 25 years, was investigated for abdominal discomfort and left upper abdominal pain. Her family history was unremarkable, except an unknown disorder of her father causing early death. Abdominal ultrasonography (USG) and computed tomography revealed a giant pancreatic tumor measuring 10 cm in diameter. The diagnosis of a clinically nonfunctioning pancreatic neuroendocrine tumor was established by clinical and other studies, including USG-guided aspiration biopsy and octreotide scintigraphy, and the patient underwent a distal pancreatectomy. Histology proved a well-differentiated multinodular neuroendocrine tumor of the pancreas. During surgery, a subcutaneous lipoma was also removed from the abdominal wall. Two years later, the patient developed primary hyperparathyroidism, and two enlarged parathyroid glands were surgically removed. Magnetic resonance imaging of the pituitary gland was normal. Screening for MEN1 gene mutation by temperature gradient gel electrophoresis revealed heterozygosities in exons 3, 8, and 9, while direct sequencing indicated a novel germline mutation (C354X) resulting in a stop codon in exon 8 and polymorphisms in exon 3 (R171Q) and exon 9 (D418D and L432L). Genetic screening revealed no mutation in living family members. Our unusual case suggests that a multinodular pancreatic neuroendocrine tumor in a young patient may justify screening for MEN 1 syndrome, even in the absence of other endocrinopathy or family history.