scholarly journals JAK2V617F positive polycythemia vera with paroxysmal nocturnal hemoglobinuria and visceral thromboses: a case report and review of the literature

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Sevastianos Chatzidavid ◽  
Nefeli Giannakopoulou ◽  
Panagiotis Theodorou Diamantopoulos ◽  
Eleni Gavriilaki ◽  
Panagiota Katsiampoura ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Myeloproliferative Neoplasms ◽  
Left Kidney ◽  
Cell Mass ◽  
Interesting Case ◽  
Haematopoietic Stem Cell ◽  
Case Presentation ◽  
Potential Association ◽  
Mass Expansion

Abstract Background Polycythemia vera (PV) is characterized by red cell mass expansion in the peripheral blood and can be complicated with thrombosis, bleeding, evolution to acute myeloid leukemia (AML) or a fibrotic phase. Paroxysmal nocturnal hemoglobinuria (PNH) in an acquired clonal haematopoietic stem cell disorder associated with chronic intravascular hemolysis, venous thrombosis, defective hematopoiesis, frequent episodes of infection and, rarely, leukemic transformation. Herein, we report an interesting case of a patient with coexistence of PNH clones and a JAK2V617F positive PV, with unusual thromboses without hemolysis. Case presentation A 51-year-old woman presented with increased levels of hematocrit, multiple liver, spleen, and left kidney infarctions and ascites; further investigation revealed a JAK2V617F-positive polycythemia vera and the presence of a significant PNH population (more than 90% CD55– CD59– cells among both granulocytes and red blood cells). Interestingly, the patient has experienced severe thrombotic events without any signs or symptoms of hemolysis. Conclusions This case raises questions over uncharted aspects of the PNH etiopathogenesis and its potential association with myeloproliferative neoplasms (MPN) and highlights the difficulty of diagnosing and managing patients with more than one potentially thrombophilic conditions, especially with established and severe thromboses.

scholarly journals JAK-2 Positive Polycythemia Vera with Paroxysmal Nocturnal Hemoglobinuria and Splanchic Thromboses: A Case Report and Review of the Literature.

2020 ◽  
Author(s):  
Sevastianos Chatzidavid ◽  
Nefeli Giannakopoulou ◽  
Panagiotis Theodorou Diamantopoulos ◽  
Eleni Gavriilaki ◽  
Panagiota Katsiampoura ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Myeloproliferative Neoplasms ◽  
Left Kidney ◽  
Cell Mass ◽  
Interesting Case ◽  
Haematopoietic Stem Cell ◽  
Case Presentation ◽  
Potential Association ◽  
Mass Expansion

Abstract Background: Polycythemia vera (PV) is usually characterized by red cell mass expansion in the peripheral blood and can be complicated with thrombosis, bleeding, evolution to acute myeloid leukemia (AML) or a fibrotic phase. Paroxysmal nocturnal hemoglobinuria (PNH) in an acquired clonal haematopoietic stem cell disorder associated with chronic intravascular hemolysis, venous thrombosis, defective hematopoiesis, frequent episodes of infection and, rarely, leukemic transformation. Herein, we report an interesting case of a patient with co-existence of PNH clones and a JAK2V617F positive polycythemia vera, with unusual thromboses and not overt hemolysis.Case presentation: the case is a 51-year-old woman presented with increased levels of hematocrit and multiple liver, spleen, and left kidney infarctions with ascites; further investigation revealed a JAK2-positive polycythemia vera and a significant PNH population. Interestingly, our patient has experienced severe thrombotic events without reporting signs or symptoms of overt hemolysis.Conclusions: This case raises questions over uncharted aspects of the PNH etiopathogenesis, its potential association with myeloproliferative neoplasms (MPN) and highlights the difficulty of dealing with patients with more than one pro-thrombotic states, especially with established and severe thromboses.

Presence of Calreticulin Mutations in JAK2-Negative Polycythemia Vera

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 1819-1819
Author(s):  
Francois Girodon ◽  
Julien Broseus ◽  
Ji-Hye Park-Alexandre ◽  
Sylvie Hermouet ◽  
Serge Carillo
Keyword(s):  
Polycythemia Vera ◽  
Peripheral Blood ◽  
Conflicts Of Interest ◽  
Myeloproliferative Neoplasms ◽  
Cell Mass ◽  
Pcr Amplification ◽  
Jak2 Mutation ◽  
Calr Mutations ◽  
Calr Mutation ◽  
Erythropoietin Level

Abstract Calreticulin (CALR) mutations have recently been reported in JAK2- and MPL-negative Myeloproliferative Neoplasms (MPN), particularly essential thrombocythemia (ET) and primary myelofibrosis (PMF).The clinical course of sporadic CALR-mutated patients seems to be more indolent than that of JAK2-mutated patients. In contrast, no CALR mutation has been found in the 647 published cases of Polycythemia Vera (PV) patients tested. Consequently, CALR mutations were considered exclusive to JAK2 and MPL mutations. Since 98% of PV patients harbor a JAK2 mutation (mostly the V617F mutation in exon 14 and more rarely, in exon 12), the absence of CALR mutations in PV seemed logical. Here, we describe two JAK2V617F-negative PV patients who presented with a CALR mutation at the time of diagnosis. Patient # 1 had hemoglobin at 168 g/L, hematocrit at 51.3%, and increased red cell mass (RCM) at 128% associated with a normal erythropoietin level. The bone marrow biopsy showed hypercellularity for age, panmyelosis associated with normal megakaryocytes and rare isolated abnormal enlarged forms. Using reticulin stain, no myelofibrosis was noted. Patient # 2 had hemoglobin at 194 g/L, hematocrit at 53% and low erythropoietin level without any dehydration. Both had moderately elevated platelet counts (658 and 575 x109/L respectively) with normal leukocyte counts. They were negative for BCR-ABL. No mutation was found in JAK2 exons 12, 13 and 14 by HRM and allele-specific real-time PCR or in MPL exon 10. Using HRM analysis, CALR mutations were suspected in both patients and confirmed using Sanger sequencing and product sizing analyses: CALR mutations were in both patients type 1 deletions (52-bp deletion; c.1092_1143del). To complete genomic tests made on peripheral blood granulocytes, we performed colony assays in methylcellulose and in collagen, picked single BFU-E colonies grown after 14 days in the presence of erythropoietin, and genotyped each colony individually for CALR. Of the 27 colonies genotyped, 6 had no PCR amplification and 21 harboured the same CALR mutation observed in peripheral blood granulocytes, i.e 52-bp deletion; c.1092_1143del. BFU-E were found heterozygous for CALR, with a mean allele burden of 49%. To our knowledge, these patients are the first cases of CALR-mutated PV to be reported. However, since a biclonalJAK2V617F and CALR MPN case recently reported, we cannot rule out the possibility of a biclonal disease involving a yet unknown mutation associated with a CALR mutation. On the other hand, the presence of a CALR mutation both in peripheral granulocytes and in BFU-E suggests that the CALR mutation plays a role in the polycythemia phenotype. Our observations highlight the fact that in the absence of JAK2 mutation, CALR mutations can also be associated with PV. In conclusion, our data indicate that testing JAK2-negative PV patients for CALR mutations may be useful. Disclosures No relevant conflicts of interest to declare.

scholarly journals Parathyroid Adenoma as a Rare Cause of Persistent Hypercalcemia in a Female with Polycythemia Vera

2020 ◽  
Vol 13 (2) ◽  
pp. 578-582
Author(s):  
Ahmed M. Abdalhadi ◽  
Mohamed A. Yassin
Keyword(s):  
Parathyroid Adenoma ◽  
Polycythemia Vera ◽  
Blood Cells ◽  
Myeloproliferative Neoplasms ◽  
Cell Mass ◽  
Red Cell ◽  
Jak2 Mutation ◽  
Red Cell Mass

Polycythemia vera is one of the myeloproliferative neoplasms that is distinguished by the uncontrolled production of blood cells and an increased red cell mass due to acquired JAK2 mutation. It has many complications and it might increase the risk of other tumors. However, it does not cause hypercalcemia and is rarely associated with parathyroid adenoma. Here, we report on a 64-year-old female with polycythemia vera found to have hypercalcemia due to parathyroid adenoma.

scholarly journals Glucokinase is required for high‐starch diet‐induced β‐cell mass expansion in mice

2021 ◽  
Author(s):  
Kazuhisa Tsuchida ◽  
Akinobu Nakamura ◽  
Hideaki Miyoshi ◽  
Kelaier Yang ◽  
Yuki Yamauchi ◽  
...  
Keyword(s):  
Cell Mass ◽  
Β Cell ◽  
High Starch ◽  
Mass Expansion ◽  
Starch Diet

scholarly journals 1003 A Case of Tunnel-Vision in Upper Renal Tract Imaging: The Invisible Gorilla

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
M Swamad ◽  
M K Quraishi ◽  
S Ahmed
Keyword(s):  
Renal Mass ◽  
Left Kidney ◽  
Interesting Case ◽  
Ct Scans ◽  
Renal Ultrasound ◽  
Ultrasound Scan ◽  
Surgical Team ◽  
Tunnel Vision ◽  
Impact Patient Care ◽  
The Right

Abstract We present an interesting case of a 70-year-old female who presented with haematuria on the suspected cancer pathway. Renal ultrasound showed a vascular renal mass on her right kidney measuring 8x7cm with an unremarkable left kidney. She underwent a laparoscopic radical nephrectomy following confirmation of an 8cm renal mass in the right kidney on the contrasted staging CT scan with a repeat review at the multidisciplinary meeting. Post-operatively a subsequent review of the pre-operative CT and ultrasound scan, showed an incidental large left(contralateral) upper quadrant retroperitoneal fatty mass sized 15x10cm, displacing the stomach and spleen. Further investigation in the form of an MRI Abdomen excluded features of a liposarcoma, resulting in the diagnosis of a large retroperitoneal lipoma. This case highlights the significance of selective attention in imaging interpretation. We believe this to be a prime example of the level of meticulousness required as fat-rich tissues have low attenuation on CT-scans, which can be easily missed out. A cautious multi-clinician interpretation of scans should be performed to avoid missing potentially sinister pathology which would impact patient care dramatically. This case has led to more thorough review of future pre-operative imaging by the operating surgical team.

Short report: craniosynostosis, a late complication of nutritional rickets

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Lydia Y. Forestier-Zhang ◽  
Paul Arundel ◽  
Robyn Gilbey-Cross ◽  
Mohammed Zulf Mughal ◽  
Amaka C. Offiah ◽  
...  
Keyword(s):  
Early Identification ◽  
Late Complication ◽  
Psychosocial Problems ◽  
Short Report ◽  
Delayed Presentation ◽  
Brain Growth ◽  
Case Presentation ◽  
Nutritional Rickets ◽  
Potential Association

Abstract Objectives Nutritional rickets may be a preventable cause of craniosynostosis. This potential association is under-recognised. A late diagnosis of craniosynostosis may result in reduced brain growth, raised intracranial pressure and long-term psychosocial problems. Case presentation We present four cases of craniosynostosis associated with nutritional rickets. Those who had delayed presentation underwent emergency craniotomy. Conclusions Treatment of nutritional rickets and early identification of craniosynostosis can reduce morbidity in these children.

scholarly journals The p21-activated kinase (PAK1) is involved in diet-induced beta cell mass expansion and survival in mice and human islets

Diabetologia ◽  
2016 ◽  
Vol 59 (10) ◽  
pp. 2145-2155 ◽  
Author(s):  
Miwon Ahn ◽  
Stephanie M. Yoder ◽  
Zhanxiang Wang ◽  
Eunjin Oh ◽  
Latha Ramalingam ◽  
...  
Keyword(s):  
Beta Cell ◽  
Cell Mass ◽  
Beta Cell Mass ◽  
Human Islets ◽  
P21 Activated Kinase ◽  
Mass Expansion

scholarly journals Adaptive β-cell proliferation increases early in high-fat feeding in mice, concurrent with metabolic changes, with induction of islet cyclin D2 expression

2013 ◽  
Vol 305 (1) ◽  
pp. E149-E159 ◽  
Author(s):  
Rachel E. Stamateris ◽  
Rohit B. Sharma ◽  
Douglas A. Hollern ◽  
Laura C. Alonso
Keyword(s):  
Cell Proliferation ◽  
Cell Mass ◽  
Extended Period ◽  
Time Frame ◽  
High Fat ◽  
Β Cells ◽  
Β Cell ◽  
Cyclin D2 ◽  
Mass Expansion

Type 2 diabetes (T2D) is caused by relative insulin deficiency, due in part to reduced β-cell mass ( 11 , 62 ). Therapies aimed at expanding β-cell mass may be useful to treat T2D ( 14 ). Although feeding rodents a high-fat diet (HFD) for an extended period (3–6 mo) increases β-cell mass by inducing β-cell proliferation ( 16 , 20 , 53 , 54 ), evidence suggests that adult human β-cells may not meaningfully proliferate in response to obesity. The timing and identity of the earliest initiators of the rodent compensatory growth response, possible therapeutic targets to drive proliferation in refractory human β-cells, are not known. To develop a model to identify early drivers of β-cell proliferation, we studied mice during the first week of HFD exposure, determining the onset of proliferation in the context of diet-related physiological changes. Within the first week of HFD, mice consumed more kilocalories, gained weight and fat mass, and developed hyperglycemia, hyperinsulinemia, and glucose intolerance due to impaired insulin secretion. The β-cell proliferative response also began within the first week of HFD feeding. Intriguingly, β-cell proliferation increased before insulin resistance was detected. Cyclin D2 protein expression was increased in islets by day 7, suggesting it may be an early effector driving compensatory β-cell proliferation in mice. This study defines the time frame and physiology to identify novel upstream regulatory signals driving mouse β-cell mass expansion, in order to explore their efficacy, or reasons for inefficacy, in initiating human β-cell proliferation.

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