ABSTRACT
The 2016 WHO-CMP classification proposal defines a broad spectrum of JAK2 V617F mutated MPN phenotypes: normocellular ET, hypercellular ET due to increased erythropoiesis (prodromal PV), hypercellular ET with megakaryocytic-granulocytic myeloproliferation and splenomegaly (EMGM or masked PV), erythrocythemic PV, early and overt classical PV, advanced PV with MF and post-PV MF. ET heterozygous for the JAK2 V617F mutation is associated with low JAK2 mutation load and normal life expectance. PV patients are hetero-homozygous versus homozygous for the JAK2 V617F mutation in their early versus advanced stages with increasing JAK2 mutation load from less than 50% to 100% and increase of MPN disease burden during life long follow-up in terms of symptomatic splenomegaly, constitutional symptoms, bone marrow hypercellularity and secondary MF. Pretreatment bone marrow biopsy in prefibrotic MPNs is of diagnostic and prognostic importance. JAK2 exon 12 mutated MPN is a distinct benign early stage PV. CALR mutated hypercellular thrombocythemia show distinct PMGM bone marrow characteristics of clustered larged immature dysmorphic megakaryocytes with bulky (bulbous) hyperchromatic nuclei, which are not seen in JAK2 mutated ET and PV. MPL mutated normocellular thrombocythemia is featured by clustered giant megakaryocytes with hyperlobulated stag-horn-like nuclei without features of PV in blood and bone marrow. Myeloproliferative disease burden in each of the JAK2, CALR and MPL MPNs is best reflected by the degree of anemia, splenomegaly, mutation allele burden, bone marrow cellularity and myelofibrosis.
ABSTRACT
We present the case of a 53 years old woman diagnosed with splenic marginal zone lymphomas with plasmacytic differentiation (after a lymph node biopsy), who, complained of mild asthenia, weight loss (about 10 kg in 9 months), spatial disorientation during the last period. The clinical examination revealed slight pallor, normal cardiovascular and respiratory examination; painful cervical, about 5cm in diameter and also non-painful inguinal lymphadenopathies, increased consistency, freely movable, about 2 cm in diameter. The patient presented enlarged liver (lower limit at 3 cm below the ribs) and spleen (inferior pole at the ombilicus). The laboratory tests showed leucocytosis with lymphocytosis-a clonal population of lymphocytes- CD19+, CD20low+, CD22+, CD5low+, CD24+, CD200low+, CD79B+, CD43-, FMC7+/-, CD10+/-, CD34-, BCL2+, TdT-, CD34-, CD10-, CD3-. We suggested the diagnosis of mantle cell lymphoma, blastoid variant and performed a bone marrow biopsy . The bone marrow biopsy excluded the diagnosis of mantel cell lymphoma, based on the absence of cycline D1. The histopathological appearance and the immunohistochemical tests (CD20+, CD79a+, CD5low+, TdT-, CD34-cycline D1-) suggested a blastoid variant of small lymphocytic lymphoma.
Subject(s)
Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Bone Marrow/pathology , Diagnosis, Differential , Female , Flow Cytometry , Humans , Immunophenotyping , Leukemia, Lymphocytic, Chronic, B-Cell/classification , Lymphoma, B-Cell, Marginal Zone/diagnosis , Middle AgedABSTRACT
We present the case of a patient with a double transformation during the evolution of chronic hematopoietic malignancy - JAK2 positive chronic myeloproliferative neoplasm; the first transformation had occurred previous to the presentation in our Department, but the second transformation was observed in evolution and it was into a rapidly evolving disease, followed by survival of less than one month. We underline the very poor prognosis -- overall survival of 2.5 years from initial presentation -- a much reduced survival for a chronic myeloproliferative neoplasm, probably due also to multiple associated pathology. Also, the other interesting element of the case is related to the dysfunctional platelets -- hemorrhagic complication at increased platelet count, respectively thrombosis at platelet count under 20000/mmc.
