Primary myelofibrosis is the most frequent myeloproliferative neoplasm associated with del(5q): clinicopathologic comparison of del(5q)-positive and -negative cases.
Among 23 cases of myeloproliferative neoplasms (MPNs) with an associated del(5q) seen at our institution, 14 (61%) fulfilled diagnostic criteria for primary myelofibrosis (PMF). Other diagnoses included polycythemia vera (PV; n=2), essential thrombocythemia (ET; n=1), post-ET myelofibrosis (n=1), systemic mastocytosis (SM; n=1), and MPN, unclassifiable (n=4). Compared to their del(5q)-negative counterparts, del(5q)-positive PMF cases were significantly more anemic (p<0.001) and thrombocytopenic (p<0.001). However, survival and leukemic transformation rates appear to be similar between the two groups. del(5q)-positive PMF was histologically characterized by a mixture of both small and monolobated megakaryocytes as well as large and bizarre megakaryocytes. When used, lenalidomide therapy induced hematological and cytogenetic remissions in del(5q)-positive PMF. The current study identifies PMF as another del(5q)-associated myeloid malignancy with characteristic megakaryocyte morphology.
Santana-Davila
Rafael
R
Division of Hematology, Mayo Clinic, Rochester, MN, USA. santana.rafael@mayo.edu
Tefferi
Ayalew
A
Holtan
Shernan G
SG
Ketterling
Rhett P
RP
Dewald
Gordon W
GW
Knudson
Ryan A
RA
Steensma
David P
DP
Chen
Dong
D
Hoyer
James D
JD
Hanson
Curtis A
CA
D001853:Bone Marrow / Q000473:pathology; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D008533:Megakaryocytes / Q000473:pathology; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology; D055728:Primary Myelofibrosis / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D017384:Sequence Deletion; D016019:Survival Analysis