ALBERT

Description: According to the World Health Organization (WHO) 2008/2016 criteria for classification of myeloid neoplasms, a platelet (PLT) count ≥ 450X109/l, thus reduced from the previous WHO 2001 level ≥ 600 x 109/l, was considered the new PLT threshold for the diagnosis of Essential Thrombocythemia (ET). Aim of the study was to validate in a setting of current clinical practice this important diagnostic change and compare clinical and hematological features at diagnosis and during follow-up of patients with PLT ≥600 x 109/l versus patients with PLT 〈 600 x 109/l. We retrospectively analyzed data from 264 patients with ET according to WHO 2008/2016 criteria, enrolled in our center from 1/2008 to 12/2017. Patients were divided into Group A (G-A) (PLT ≥600 x 109/l at diagnosis) (199 patients - 75.4%) and Group B (G-B) (PLT ≥ 450 x 109/l 〈 600 x 109/l at diagnosis) (65 patients - 24.6%) and compared for clinical features at the onset, clinical course and follow-up. Main features and commonly recognized pro-thrombotic risk factors at diagnosis of the entire cohort as well as of G-A and G-B are reported in the Table 1. Among clinical features, only the median value of leukocytes was significantly higher in G- A [9.1 x 109/l, interquartile range (IQR) 7.8-10.3 vs 7.4 x 109/l, IQR 6.0-9.6; p = 0.001]. Among pro-thrombotic risk factors, only the median cholesterol value was significantly lower in the G-A [187 mg/dl (IQR 164-220) vs 204 mg/dl (RIQ 177-238); p = 0.048]. Cytostatic treatment was administered in 175 patients (71.1%) of entire cohort at different intervals from diagnosis, with a significantly higher rate in patients of G-A (76.9% versus 49.2%, p 1.000 x 109/l, highlights how thrombotic risk is unrelated to PLT value and leads to consider the administration of adequate cytostatic therapy even in patients with relatively lower PLT count at diagnosis. Disclosures Breccia: Novartis: Honoraria; Pfizer: Honoraria; Incyte: Honoraria; BMS: Honoraria. Foà:INCYTE: Other: ADVISORY BOARD; JANSSEN: Other: ADVISORY BOARD, Speakers Bureau; GILEAD: Speakers Bureau; CELTRION: Other: ADVISORY BOARD; ABBVIE: Other: ADVISORY BOARD, Speakers Bureau; CELGENE: Other: ADVISORY BOARD, Speakers Bureau; AMGEN: Other: ADVISORY BOARD; ROCHE: Other: ADVISORY BOARD, Speakers Bureau; NOVARTIS: Speakers Bureau.

Description: Incidence and etiology of lympho node enlargement in adults patients referred to hematologist by primary care doctors for diagnosis are not reported. The aim of this study was to retrospectively evaluate incidence and causes of lymphadenopathy in adults patients evaluated at our Hematology division. Between January 2004 and December 2005 we evaluated 550/7200 (7.6%) consecutively patients referred because of lymphadenopathy. The clinical work up for these patients initially consisted of clinical history and physical examination. According to our previous published criteria, patients showing superficial lymphadenopathy (firmer and rigidly elastic with deep mobility less than normal) underwent to laboratory examinations (blood cell counts, erythrocytes sedimentation rate, serum lactate dehydrogenase, electrophoresis, and serology for main related infective diseases) and instrumental investigations (standard chest X-ray, ultrasonography, and computer axial tomography) (Cancer1999:85, 2488). Patients showing abnormal laboratory values and/or pathological instrumental parameters without a known etiology, underwent to bone marrow needle aspiration/biopsy and/or lympho node biopsy. We evaluated in two years 29% (160/550) of our patient population by lympho node biopsy, while this approach was not utilized in the remaining 71%. Hystopathological lympho node examination allowed identification of the causes of lympho node enlargement in the following patients: 51.9% (83/160) had Non Hodgkin and Hodgkin lymphomas (53 and 30 cases respectively), 16.8% (27/160) had a metastatic solid tumors lympho node involvement, 21.8% (35/160) had inflammatory reactive lympho nodes, and 7.5% (12/160) were classified as infective and granulomatosis diseases; in the remaining 2 (1.2%) patients biopsy revealed neurinoma. Among the 390 patients in which the lympho node biopsy was not performed, 94.2% (367) of them showed spontaneous resolution of lympho node enlargement during clinical follow-up (1–3 months), 2.5% (10/367) were classified according to the bone marrow biopsy as low grade Non Hodgkin Lymphoma, 2.8% (11/367) were represented by a miscellaneous of benign pathologies which emerged by further diagnostic not invasive examinations, 0.5% (2/367) were identified as metastatic solid tumors (lung and neck cancer) by both clinical and instrumental examination. In conclusion, lympho node enlargement is a relatively frequent clinical problem for hematologists, in fact among a large series of adult patients examined in two years at our division the incidence was of 7%. However, among patients presenting lympho node enlargement, the majority of them (two third) did not achieve a defined etiological diagnosis, while one third of the remaining cases were classified as mainly Non Hodgkin and Hodgkin lymphomas, including a discrete percentage of metastatic solid tumors. This retrospective evaluation demonstrates that the clinical, physical and instrumental approach to lympho node enlargement, especially based on ultrasonography criteria, may provide useful information to define patients requiring lympho node biopsy.

Description: Budd-Chiari syndrome (BCS) and Non-Cirrhotic Extra-Hepatic Portal Vein Obstruction (EHPVO) are two rare vascular diseases of the liver. Inherited and acquired disorders including Myeloproliferative Disorders (MPD) have been frequently reported associated with these diseases, although the large majority of cases is still defined as “idiopathic disease”. The somatic mutation in the tyrosine kinase JAK2 has been described in MPD, specifically in the majority of patients with polycythemia vera (PV), in about half of cases with essential thrombocythemia (ET) and in one third of idiopathic myelofibrosis (IMF), suggesting its pathogenetic role in these diseases. Since the diagnosis of MPD is often difficult in patients with BCS or EHPVO because of spleen enlargement and secondary pancitopenia that can mask erythrocytosis and thrombocytosis, recent observations have included in their diagnostic work-up the analysis of JAK2 mutations. In fact, recently, a high prevalence of JAK2 mutations has been described in splanchnic vein thrombosis. The aim of this study was to evaluate the prevalence and the levels of JAK2 mutation in the patient population affected by BCS and EHPVO followed at our Hepatology Division. The JAK2 mutation was evaluated by allele-specific real-time TaqMan polymerase chain reaction. We enrolled in this study 18 patients (median age: 38 ± 9.8 years) affected by BCS (7 patients), EHPVO (10 patients), or both (1 patient). In 9 of them the JAK2 mutation was absent, while it was demonstrated in the remaining cases. Among these, an heterozygous deletion (JAK2 mutation ranging between 2.7% and 48%) was detected in 5 and an homozygous deletion (55.7%–88%) in 4. A diagnosis of PV was made in 2 patients with JAK2 heterozygous deletion affected by BCS and EHPVO. The 3 IMF were all characterized by homozygous deletions: 1 had BCS and 2 EHPVO. In the remaining 3 patients, in the absence of other diagnostic criteria, only the bone marrow biopsy revealed the presence of initial marrow fibrosis: grade 0–1 (2 patients both affected by EHPVO with heterozygous and homozygous deletion) and grade 1 (in a heterozygous patient affected by EHPVO). In summary, the JAK2 mutation was demonstrated in half of the cases with vascular liver diseases, regardless of the JAK mutation levels. The marrow fibrosis was, in these cases, frequently associated with both BCS and EHPVO, suggesting a common potential pathogenetic role in these vascular diseases of the liver.