Three subjects in a family with microcytic and hypochromic anemia were studied; red blood cell morphology indicated aniso-poikilocytosis and hypochromasia. Target and tear-drop cells were also noted. ...In all three cases evaluated, there was an increase in HbA2 levels and a decline in the β/α synthesis ratio. Direct cloning and DNA sequencing identified a point mutation (G→T) at position 1 of intervening sequence I. The resulting reduction of β-globin chain synthesis is considered to give rise to β0-thalassemia phenotype. This point mutation is to our knowledge, the first case in Japan. (Internal Medicine 32: 865-868, 1993)
A 78-year-old man presented with marked thrombocytosis (126.4 x 10(4)/microliters), low neutrophil alkaline phosphatase (NAP) score and an abnormal karyotype of 46, XY, del(20) (q11q13) (18 of 20 ...cells), without obvious anemia or ringed sideroblasts in bone marrow. He received ranimustine (MCNU) with a diagnosis of essential thrombocythemia. After 2 years, he was admitted because of macrocytic anemia. The peripheral blood smear showed anisopoikilocytosis with a few nucleated red blood cells. Moderate thrombocytosis (71.7 x 10(4)/microliters) and a low NAP score were also observed. Bone marrow aspiration revealed erythroid hyperplasia with a significant increase in ringed sideroblasts (85% of erythroblasts). Cytogenetic studies showed the same abnormal karyotype 46, XY, del(20) (q11q13) in 100% of metaphase cells as those at initial diagnosis. A diagnosis of sideroblastic anemia preceded by essential thrombocythemia was made. No rearrangement or amplification of c-src was revealed. The observation of the same chromosome abnormality (20q-) in different phases of this patient's disease indicates that chronic myeloproliferative disorders and myelodysplastic syndrome may share some borderline or transitional cases with a similar pathogenesis.
An autopsy case of primary gastric choriocarcinoma in a 55-year-old male is presented. The tumor was diagnosed as choriocarcinoma of the stomach from a histological examination of biopsy specimens. ...The level of human chorionic gonadotropin (HCG) was significantly increased in the serum and urine. A histological examination of autopsy specimens showed the tumor of the stomach to be a pure choriocarcinoma composed of syncytiotrophoblasts and cytotrophoblasts with a mixture of eosinophilic necrotic tissues, but with no elements of adenocarcinoma. The tumor showed metastases and/or invasions to the liver, lungs, pancreas, omentum, pleura, peritoneum and lymph nodes. Positive immuno-histochemical staining for the beta-subunit of HCG (HCG-beta) in the gastric tumor was demonstrated in the form of granular diffuse deposits in the cytoplasm of trophoblasts and predominated in syncytiotrophoblasts over transitional cells. Under electron microscopic observation, positive immunostaining for HCG-beta was observed in the perinuclear space, cisternae of the rough endoplasmic reticulum (RER) and secretory vesicles of syncytiotrophoblasts and transitional cells.
A case of hepatic angiomyolipoma occurring in a 41-year-old woman, the eighteenth case in literature, is reported herein. The radiographic imagings of the tumor simulated those of focal nodular ...hyperplasia; namely, the tumor was hyperechoic on ultrasound, hypodense on computed tomography, hypervascular on angiography, and exhibited an uptake of technetium (Tc)-99m phytate. The diagnosis was established after successful removal of the huge tumor from the right hepatic lobe. Histologically, the tumor was angiomyolipoma which was made up of three components, blood vessels, smooth muscle and fatty tissue. Furthermore, extramedullary hematopoiesis, which is usually seen in this tumor was confirmed. The differentiation of hepatic angiomyolipoma from FNH is also discussed.
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