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Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera.

We have identified partial trisomy 1q in 2 patients with different hematologic disorders. The first patient was a 55-year-old female with myelosclerosis and myeloid metaplasia diagnosed at age 38 years presenting with anemia, fatigue, bruising, fever, and splenomegaly. At age 56, she had 50--95% myeloblast cells and 95--100 nucleated RBC precursors per 100 WBC. Chromosome analysis of unstimulated leukocytes with Q, G, and C banding showed 46,XX,-6,+t(1;6) (q25;p22) in all metaphase cells. In vitro incorporation of Fe55 was demonstrated 90% of metaphases by autoradiography. The second patient, a 49-year-old male, was diagnosed as having polycythemia vera at age 30 during a regular checkup. He since developed hepatosplenomegaly. Chromosome analysis from a direct bone marrow preparation at age 44 and 45 showed grossly normal karyotypes. At age 49, his marrow by Q and G banding showed almost 100% of cells with 46,XY,-13,+t(1;13) (q12;p12). Eleven cases of trisomy of 1q have been reported in various hematologic disorders. It is apparent that partial trisomy 1q represents another nonrandom chromosomal abnormality, in addition to the most common nonrandom chromosomal aberrations, such as the Philadelphia chromosome, trisomy 8, trisomy 9, and monosomy 7 in hematologic disorders.

Chromosomes, Human, 1-3↗

Myelofibrosis: a concise review of clinical and pathologic features and treatment.

This paper reviews and clarifies the current understanding of the clinical and pathologic features and treatment of MF. Recent investigations indicate that MF may be mediated by platelet- and megakaryocyte-derived growth factors, impaired prostaglandin-mediated stem cell growth inhibition, or excessive endothelial cell and fibroblast proliferation. Immunologic disorders have been associated with MF. MF may be either a primary or a secondary phenomenon. Secondary MF often regresses with appropriate treatment of this underlying disorder. Primary MF may require androgen therapy, splenectomy, splenic irradiation, bone curettage, chemotherapy, or bone marrow transplantation.

Humans↗

Extramedullary hematopoiesis in the kidneys in infant siblings with myelofibrosis.

Extramedullary hematopoiesis (EMH) is known to occur in clinical settings associated with severe anemia. Because very young children with anemia can usually recruit the still large compartment of red marrow, EMH is more frequently seen in adults. We have observed two young girls, who were unable to produce sufficient blood products in their marrow and instead developed EMH, one with documented and rarely reported renal involvement. They are described below.

Female↗