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Spontaneous loss of ph chromosome with maintenance of clonal hemopoiesis in an untreated patient with myeloproliferative disease and a long survival

✍ Scribed by Mario Luppi; Monica Morselli; Giovanni Emilia; Paola Temperani; Roberto Marasca; Patrizia Barozzi; Licia Selleri; Giuseppe Torelli


Book ID
102221939
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
375 KB
Volume
12
Category
Article
ISSN
1045-2257

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✦ Synopsis


The unusual case of myeloproliferative disease described here is characterized by the following features: ( I) a clinically completely silent course for I I years without splenomegaly. marrow fibrosis, or cellular morphologic alterations; (2) the presence, at the onset, of a Philadelphia (Ph) chromosome without DNA breakpoints in the M-bcr region; (3) the spontaneous loss of detectable Ph-positive cells, 5 years after the first finding of leukocytosis, in the absence of any therapy; (4) the maintenance of the clonal nature of hematopoiesis, as revealed by the PGK X-linked inactivation pattern, in the absence of the Ph chromosome; arid (5) a biphasic trend in the levels of leukocytes, red cells, and platelets during the years of observation.