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The immunocytochemical characterization of neoplastic cells recognized by a large panel of monoclonal antibodies in fine needle aspirates obtained from 16 subjects with superficial or profound tumoral masses of unknown origin was carried out using alkaline phosphatase anti-alkaline phosphatase (APAAP) immunoenzymatic method. The patients were selected on the basis of particular clinical criteria or since a correct cytohistological diagnosis was not available. APAAP immunophenotyping allowed to establish the existence of non-Hodgkin lymphoma in 6 cases, hairy cell leukemia in 1 case and carcinoma in 5 cases, while in other 2 patients the existence of Hodgkin's disease was suspected and subsequently confirmed; only in 2 subjects diagnostic informations were lacking. Furthermore, the evaluation of growth fraction by means of Ki 67 monoclonal antibody revealed a high degree of malignancy in all cases of lymphoma. Although some cautions have to be considered in the interpretation of results, APAAP immunocytochemical typing of fine needle aspirates appears a simple and reliable noninvasive diagnostic tool in selected patients. [ABSTRACT FROM AUTHOR]

Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins resulting from a defect in one step of GPI-anchor biosynthesis. Recent analysis has shown that mutations at the PIG-A (phosphatidylinositoglycan-class A) gene are responsible for GPI-anchor deficiency in all PNH patients. In the current study, we describe three new mutations of the PIG-A gene in Italian patients with PNH. The analysis has been performed by RNA/single-strand conformation polymorphism using genomic DNA purified from nucleated peripheral blood cells. An abnormal pattern of migration of polymerase chain reaction amplified fragments containing exons 2 and 5 was observed. Sequencing analysis led to the identification of three mutations: a transversion C-to-A creating a stop codon (Y98X), an A insertion at position 460 (460insA), and a C deletion (1114delC). All the mutations cause a premature termination of the translation of the PIG-A protein. [ABSTRACT FROM AUTHOR]

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