Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026764 (multiple myeloma)
 36,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnostic approach to thrombocytosis involves consideration of reactive, hereditary, and neoplastic causes. Once reactive causes of thrombocytosis, such as iron deficiency, infections, solid tumors, and other obvious causes such as post-splenectomy thrombocytosis, have been ruled out, the focus shifts to myeloid malignancies, such as chronic myeloid leukemia (CML), the classic Philadelphia chromosome-negative (Ph-) myeloproliferative neoplasms (MPNs), essential thrombocythemia (ET), primary myelofibrosis (PMF), polycythemia vera (PV), myelodysplastic syndrome (MDS) with isolated deletion 5q and the rare MDS/MPN "overlap" syndrome, MDS/MPN with ring sideroblasts, and thrombocytosis (MDS/MPN-RS-T).
Clin Lymphoma Myeloma Leuk 2020 Sep
PMID:A Young Woman with Thrombocytosis. 3286 51

Of BCR-ABL negative myeloproliferative neoplasm (MPN) patients, 3-14 % display a concomitant monoclonal gammopathy (MGUS). Nonetheless, literature on co-occurring MPN and MGUS is scarce, the molecular underpinnings are unknown and it is unclear whether patients require a specific management. Here, we compared the clinical and genetic features of MPN patients with and without concomitant MGUS. Of 114 MPN patients prospectively studied by serum immunofixation (median age, 67 years; 36.0 % essential thrombocythemia [ET], 24.6 % polycythemia vera [PV], 11.4 % secondary myelofibrosis [sMF], 28.1 % primary myelofibrois [PMF]; 73.7 % JAK2 V617F positive), 10 (9 %) harbored an M-protein. No relevant clinical differences existed between MPN patients with or without M-protein. Seven additional MPN/MGUS patients were retrospectively identified in our MPN registry, yielding a total of 17 patients (7 ET, 3 PV, 3 sMF, 4 PMF). One patient developed multiple myeloma (MM) and one smoldering MM. Seven of 12 patients analyzed carried mutations (e.g. in ASXL1 or TET2) in addition to those in JAK2 or CALR, and 4 of 10 patients showed aberrant cytogenetics. M-protein was mainly IgG (12/17), followed by IgM (4/17). In the two patients that underwent allogeneic stem cell transplantation mutant JAK2 and M-protein were no longer detectable post-transplant. In conclusion, MGUS prevalence in our cohort was in the range of previous reports and at most slightly higher than expected in the general population. MGUS presence did not correlate with a specific MPN entity, clinical features or genetic alterations. Our observations suggest that there is no strong clinical or biological relationship between the occurrence of MGUS and MPN.
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PMID:Prevalence and characteristics of myeloproliferative neoplasms with concomitant monoclonal gammopathy. 3297 64


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