Polycythemia Vera and Other Mieloproliferative Neoplasms

Question 1

The World Health Organization (WHO) classification of the chronic myeloproliferative neoplasms

Answer 1

Chronic myeloid leukemia, bcr-abl–positive
Chronic neutrophilic leukemia
Chronic eosinophilic leukemia, not otherwise specified
Polycythemia vera
Primary myelofibrosis
Essential thrombocytosis
Mastocytosis
Myeloproliferative neoplasms, unclassifiable

Question 2

Características das chronic myeloproliferative neoplasms

Answer 2

1 - origin in a multipotent hematopoietic progenitor cell;
2 - overproduction of one or more of the formed elements of the blood without significant dysplasia;
3 - predilection to extramedullary hematopoiesis, myelofibrosis,
4 - transformation at varying rates to acute leukemia.

Question 3

Que mutações estão envolvidas nas chronic myeloproliferative neoplasms?

Answer 3

CML - balanced translocation between chromosomes
9 and 22 [t(9;22)(q34;11)];
CNL - t(15;19) translocation;
CEL - deletion or balanced translocations involving the PDGFRα gene.

PV, PMF, and ET - mutation V617F, that causes constitutive activation of JAK2