5 research outputs found
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Epidemiological Profile of Polycythemia Vera Patients Diagnosed during 2016-2020: An Ethnic Variation in Armenia
Background: Polycythemia Vera (PV), a rare myeloproliferative neoplasm, exhibits variations in disease characteristics across diverse ethnic populations. Epidemiological data on PV patients in low-middle-income countries, such as Armenia, is scarce. This study represents the first comprehensive retrospective analysis of PV patients diagnosed between 2016 and 2020 in Armenia. It aims to provide valuable insights into disease characteristics, including median survival, gender distribution, hemoglobin levels, JAK2V617F mutation status, and treatment patterns. Additionally, it explores gender disparities in PV patients in Armenia which is essential to tailor appropriate therapeutic strategies. While previous studies have reported a consistent male-to-female ratio of 2:1 across all ethnicities, this research highlights a contrasting male-to-female ratio in Armenia. Methods: This study included all patients with a diagnosis of PV in the Republic of Armenia from 2016 to 2020, which were registered through the registry of the Hematology Center after Prof. Yeolyan, which stands as the sole hematology center in Armenia. Medical records were reviewed retrospectively and analyzed. Gender distribution was meticulously examined in the context of ethnicity, allowing for a nuanced understanding of the male-to-female ratio variation. Furthermore, the study explored additional epidemiological data, including median survival, hemoglobin levels, JAK2V617F mutation status, and treatment patterns. Results: This analysis provides the first in-depth epidemiological insights into PV patients in Armenia. Surprisingly, our findings indicate that in Armenia, the male-to-female ratio deviates from the established norm, manifesting as a male-to-female ratio of 1.0/0.8 (55.1% males, 44.9% females). This ethnic variation in gender distribution prompts further investigation into the underlying genetic and environmental factors that may contribute to the occurrence of PV within the Armenian population. Additionally, the study revealed a mean survival of 79.457 months (95% CI: 76.718 - 82.196). The median hemoglobin level was 198 g/l. JAK2V617F mutation analysis was conducted in a portion of the cases, with 81.4% of patients not undergoing testing. Among the cases where JAK2V617F mutation analysis was performed, 81.8% tested positive for the mutation, while 18.2% yielded negative results. The majority (88.1%) of PV patients received Hydroxyurea as a therapeutic intervention. However, limitations such as the absence of JAK2V617F mutation analysis in a substantial portion (81.4%) of cases highlight the challenges faced in resource-limited settings like Armenia. The high cost of Ruxolitinib poses further barriers to access for the patient population. Conclusion: This pioneering epidemiologic study in Armenia offers valuable insights into PV's characteristics within this unique ethnic context. The observed difference in the male-to-female ratio in PV patients in Armenia merits further investigation. Unraveling the factors contributing to this ethnic variation could provide crucial insights into the pathogenesis of PV and may aid in optimizing diagnostic and therapeutic approaches for this rare hematologic disorder in Armenia. Limitations: This nationwide study exploring PV in Armenia encountered limitations due to unavailable data for 26 cases, including 5 deceased patients. The retrospective design, and limited genetic testing data may impact the study's generalizability and disease characterization. Longitudinal follow-up and potential unmeasured confounding factors further warrant consideration
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Co-Occurrence of Familial Mediterranean Fever and Hematologic Malignancies: Case Report Series
Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder primarily found among individuals of Mediterranean descent, including Armenians, Italians, Greeks, Arabs, Turks and Jews. In the Armenian population, approximately 90% of FMF cases are associated with three main mutations (M694V, V726A, and M680I) in two alleles of MEFV gene, while more than 300 MEFV variants have been reported worldwide. The homozygous M694V genotype is associated with frequent renal failure due to amyloidosis. Clinical manifestations of FMF include periodic attacks of diffuse serositis with pain and fever that are treated with colchicine or biologic therapy. There is a scarcity of data on patients with FMF and hematologic malignancies. Limited data makes it difficult to generate evidence-based recommendations for the management of these patients, which is mostly based on expert opinions or few case reports. Here we report the case series of patients from Armenia with simultaneous presence of FMF and hematologic malignancies (FMFHM) and evaluate their management challenges. Methods: Data was collected from the Armenian National Registry of Blood Disorders, at the Hematology Center after Prof. R. Yeolyan, and through personal interviews conducted with each patient. Hematology Center is the only institution in Armenia managing hematologic malignancies. We have analyzed 8 patients diagnosed with both FMFHM during 2000-2020, treated in the pediatric (1 patient) and adult (7 patients) hematology departments. Results: 8 patients with FMFHM were identified, from which 4 were diagnosed with myeloproliferative neoplasms (MPN), 2 with acute leukemia (AL), and 2 with non-Hodgkin lymphoma (NHL). The median age of patients was 46, range 20-60 years. Only 5 (62.5%) of patients were regularly taking colchicine for FMF, while the rest refused it. Four MPN patients received treatment only with oral medications (tyrosine kinase inhibitors, hydroxyurea). Autologous hemopoietic stem cell transplantation (auto-HSCT) was performed in 1 NHL patient after indicated 1 st and 2 nd line immuno-chemotherapy. Another 2 AL patients and one NHL patient received protocol-based respective chemotherapy regimens. Moderate gastrointestinal (GI) complications (e.g., epigastric pain, nausea, vomiting, intestinal discomfort) was experienced by 7 (87.5%) patients. Allergic reactions (e.g., moderate skin rash, itching) were seen in 5 patient (62.5%), of which one developed severe anaphylactic shock. A patient with FMF and PMF had ischemic stroke caused by thrombi. Arterial hypertension occurred in 3 (37.5%). Only in one patient reduction of colchicine dosage was performed (1mg/day was reduced to 0.6mg/d), because of interaction with imatinib. The rest of patients received chemotherapy and colchicine treatment as indicated. All 8 patients are alive, 5 of them are in hematologic or molecular remission, two of which received concurrent colchicine treatment. One patient in remission developed renal failure due to FMF (colchicine was refused). Two patients with MPN treated with colchicine experienced disease stabilization. Conclusion: In conclusion, the concurrent appearance of FMFHM may potentially increase the risk of GI side effects, allergic complications, and arterial hypertension, however definitive conclusions require further investigations in larger patient cohorts. While the overall treatment responses were largely positive, the association between MEFV and HM mutations warrants deeper exploration to provide more precise drug administration recommendations for colchicine and cancer medications. Future studies in this area will contribute to a better understanding of the interplay between these conditions and guide optimal treatment strategies
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POSTER: AML-396 Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN): Initial Results of a Novel, Ongoing BPDCN International Registry Program
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AML-396 Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN): Initial Results of a Novel, Ongoing BPDCN International Registry Program
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Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN):Multi-Center Collaboration and Global Registry Program
Background BPDCN is a rare, aggressive hematologic malignancy derived from the precursors of plasmacytoid dendritic cells (pDC), typically presenting with primary cutaneous dissemination and involvement of bone marrow (BM) as well as extramedullary sites including central nervous system (CNS). In 2008, it was recognized by WHO as a distinct entity and is now recognized under Myeloid/Histiocytic/Dendritic neoplasms in the 2022 5th edition update of WHO Classification. Since the recognition of this unique entity, recent efforts have been put forward for greater understanding and international collaboration, however usually focused on North America and Europe(Pemmaraju at al and Pagano et al), with this current effort representing the largest known international efforts including more parts of the world, including Asia, Middle East and Africa. Objective Due to its historical rarity and heterogeneous presentation of disease, as well as differences in availability of therapies across geo-locations, at present there is no worldwide consensus on the management of BPDCN. The outcomes remain poor, and the optimal therapy of disease remains to be determined. Launched on July 1st, 2022, the aim of our global registry is through a multi-center international collaboration to build a large database of patients with BPDCN in order to generate data-driven diagnostic and treatment recommendations. Materials and Methods The registry collects retrospective and prospective data on clinical presentation, diagnostics, treatment regimens and outcomes of patients diagnosed with BPDCN after January 1st, 2010. The data is collected globally through eCRF and Excel form. The Registry is included in ClinicalTrials.gov database (NCT05430971). Results Through July 15 th, 2023, 15 centers from 11 countries (Armenia, Canada, Cyprus, Egypt, Georgia, India, Italy, Taiwan, Turkey, UK and USA) have joined the registry and another 13 centers from USA, UK, Egypt, Iraq, Canada, Netherlands, Tajikistan, Czech Republic, Guatemala, Brazil, Serbia, Germany are onboarding. 27 retrospective and 2 prospective pts are currently included in the registry. 76 % of pts are male, in keeping with historical expectation BPDCN. Median age at diagnosis was 62 years (4-97). In 90 % of patients the tumor cells were triple positive with CD4+, CD56+, CD123+ immunophenotype. 53.6% of patients presented with cutaneous manifestation. 21% of pts received the initial treatment with AML-based regimens, 66% with ALL-based and 7% with lymphoma-based regimens. 21% of pts underwent alloSCT. 35% of pts were diagnosed after 2018, only 1 patient has received tagraxofusp, a CD123-directed therapy that received FDA approval for previously untreated or relapsed/refractory BPDCN in 2018(Pemmaraju N et al NEJM 2019). 69 % of patients achieved complete response (CR), from which 90 % were treated with ALL-based regimens. 52% of patients experienced relapse. Conclusion Current analysis of a 29-patient worldwide cohort of BPDCN demonstrates a high degree of heterogeneity in treatment regimens based on a multitude of considerations including geographic, socio-economic, drug availability, and varied clinical preferences. The outcome of ALL-based treatment was superior as compared to AML-based, but relapse rate remained high. Further global collaboration is needed to collect additional data and to identify the best diagnostic and therapeutic approaches for this challenging disease