Spontaneous loss of Ph chromosome with maintenance of clonal hemopoiesis in an untreated patient with myeloproliferative disease and a long survival.
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.
Luppi
M
M
Department of Medical Sciences, University of Modena, Italy.
Morselli
M
M
Emilia
G
G
Temperani
P
P
Marasca
R
R
Barozzi
P
P
Selleri
L
L
Torelli
G
G
D000328:Adult; D002871:Chromosome Banding; D002999:Clone Cells; D005260:Female; D006410:Hematopoiesis; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics*; D010677:Philadelphia Chromosome; D012334:RNA, Neoplasm / Q000097:blood
D012334:RNA, Neoplasm