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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
Author(s) -
Luppi Mario,
Morselli Monica,
Emilia Giovanni,
Temperani Paola,
Marasca Roberto,
Barozzi Patrizia,
Selleri Licia,
Torelli Giuseppe
Publication year - 1995
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870120313
Subject(s) - leukocytosis , haematopoiesis , biology , chromosome , disease , philadelphia chromosome , bone marrow , myeloproliferative disorders , platelet , immunology , stem cell , cancer research , genetics , pathology , medicine , gene , chromosomal translocation
The unusual case of myeloproliferative disease described here is characterized by the following features: (1) a clinically completely silent course for 11 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; and (5) a biphasic trend in the levels of leukocytes, red cells, and platelets during the years of observation.