bromochloroacetic-acid and Anemia--Aplastic

The association of congenital anomalies and pancytopenia is encountered in several clinical syndromes. Among these, Fanconi anemia is by far the most prevalent, and consequently best known. As a result, other similar conditions, such as dyskeratosis congenita and particularly WT syndrome, are often mistaken for Fanconi anemia. However, at a closer look, the type of congenital anomalies, the mode of inheritance, cytogenic and other laboratory findings allow clear differentiation between these 3 syndromes.

Topics: Abnormalities, Multiple; Anemia, Aplastic; Diagnosis, Differential; Fanconi Anemia; Female; Humans; Keratins; Male; Pancytopenia; Skin Diseases; Syndrome

Two brothers in a Chinese family were affected with dyskeratosis congenita (DC). The proband's stepbrother died of pancytopenia and rectal adenocarcinoma. The proband with progressive pancytopenia was studied in genetics and hematology. Family investigations suggest that the disorder was inherited as an X-linked recessive transmission. No specific chromosome aberrations were detected in both peripheral blood and bone marrow cells. Bone marrow biopsy revealed markedly hypocellular marrow without prominent reticulin fibers. Hematopoiesis was assessed by assay of granulomonocytic (CFU-GM) colonies and clusters in vitro. Numbers of CFU-GM were profoundly reduced in marrow cultures from our patient. Although a defect in the stromal microenvironment and lymphocyte mediated suppression could not be excluded. It is possible that the defect is intrinsic to the hematopoietic stem cells. The familial disease described by this paper favors that the dyskeratosis congenita is X-linked with constitutional aplastic anemia. It is believed that the pancytopenia with hypocellular marrow in DC is an inherited rather than an acquired condition.

Topics: Adolescent; Anemia, Aplastic; Genetic Linkage; Hematopoiesis; Humans; Keratins; Male; Skin Diseases; X Chromosome

Six thymomas were classified histologically and studied immunohistochemically with a panel of mouse and rat monoclonal antibodies directed against thymic epithelial and lymphoid components. The antibodies included monoclonal antibodies directed against cytokeratin, medullary epithelial cells (ER-TR5), and HLA-DR and HLA-ABC antigens, as well as antibodies with specificity for thymocytes. Histologically, one thymoma was characterized by epithelial predominance (EP type), two showed lymphoid predominance (LP type), and two showed mixed lymphoid/epithelial composition (MLE type); one thymoma was a malignant pure epithelial thymoma (PE type). In the thymomas of the MLE and EP types the major populations of cells consisted of HLA-DR-negative, cytokeratin-positive epithelial cells with large ER-TR5-positive subpopulations (i.e., the phenotype of medullary epithelium). In the thymomas of the LP type, the neoplastic population was composed of cytokeratin-positive, ER-TR5-negative cells that expressed the HLA-DR antigen (i.e., the phenotype of cortical epithelium). The thymoma of the PE type consisted of cytokeratin-positive cells, some of which were ER-TR5- and HLA-DR-positive. Double immunofluorescence studies revealed the presence of varying numbers of additional nonepithelial (nonlymphoid) HLA-DR-positive cells in thymomas of the LP, MLE, and EP types. The intervening lymphoid population in the thymomas of the LP, MLE, and EP types consisted largely of cortical thymocytes, as defined by immunologic characterization. These results suggest that thymomas can be classified as medullary or cortical epithelial neoplasms on the basis of their immunologic phenotypes.

Topics: Adult; Aged; Anemia, Aplastic; Antibodies, Monoclonal; Antigens, Differentiation, T-Lymphocyte; Antigens, Surface; Child, Preschool; DNA Nucleotidylexotransferase; Epithelium; Female; Histocompatibility Antigens Class II; HLA Antigens; HLA-DR Antigens; Humans; Infant; Keratins; Male; Middle Aged; Myasthenia Gravis; Thymoma; Thymus Neoplasms