Bone marrow histology for the diagnosis of essential thrombocythemia in children: a multicenter Italian study

Putti, Maria Caterina; Pizzi, Marco; Bertozzi, Irene; Sabattini, Elena; Micalizzi, Concetta; Farruggia, Piero; Ramenghi, Ugo; Cesaro, Simone; Russo, Giovanna; Peroni, Edoardo; Fabris, Fabrizio; Randi, Maria Luigia

doi:10.1182/blood-2017-01-761767

Cited by 12 publications

(16 citation statements)

References 23 publications

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“…It has recently been noted that bone marrow studies may play a crucial role in the diagnosis of ET, differentiating it from secondary thrombocytosis and other MPNs. 15 It is feasible that some of the triple negative cases of pediatric ET are due to mutations that are unique to this population.…”

Section: Molecular Evaluationmentioning

confidence: 99%

Essential thrombocythemia A retrospective case series

Barg

Toren

Tamary

et al. 2020

Pediatric Blood & Cancer

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Background Essential thrombocythemia (ET) is rare in children, and pediatric guidelines are lacking. Therefore, we aimed to evaluate ET diagnosis and treatment in a pediatric cohort. Procedure Data of patients with ET from three hospitals were reviewed. Molecular diagnosis included JAK2V617F, CALR, and MPL mutations. Patients were evaluated for acquired von Willebrand syndrome (AVWS). Follow‐up included clinical symptoms, adverse events, and treatment. Results Twelve children (median age: 8 years, range 1‐14.5) were included. Mean lag period between the first documentation of thrombocytosis until ET diagnosis was 36 months. Six patients were positive for JAK2V617F and two for CALR mutations. In six of nine patients, AVWS was diagnosed. At diagnosis, only 33% of patients started therapy with aspirin (n = 4) and hydroxyurea (n = 2). In three of eight untreated patients, therapy was added during follow‐up. The cohort was followed for a median of 32.5 months (range: 4‐108 months). Clinical follow‐up disclosed vascular complications in 4 of 12 patients (deep vein thrombosis, n = 1; transient ischemic attack, n = 3). Two females experienced excessive bleeding; both were diagnosed with AVWS. Neither leukemia nor myelofibrosis evolved in our cohort. Conclusion Increased awareness to pediatric ET is warranted, as delayed diagnosis is common. Compared to adults, AVWS may be more prevalent among children with ET.

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Section: Molecular Evaluationmentioning

confidence: 99%

Essential thrombocythemia A retrospective case series

Barg

Toren

Tamary

et al. 2020

Pediatric Blood & Cancer

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“…These 17% of cases will need other criteria to make a definite diagnosis as ET. The bone marrow criterion is helpful in some cases, but in many cases the differential diagnosis from reactive thrombocytosis (RT) could be misleading . Because in RT, the megakaryocytes are also larger and increased in number and could be difficult to be differentiated from ET, clustering of megakaryocytes and abnormal morphology is helpful .…”

Section: Introductionmentioning

confidence: 99%

“…So, a substantial proportion of triple‐negative patients with ET have evidence of polyclonal hematopoiesis and most likely do not have a true myeloproliferative neoplasm (MPN). The use of cytoreductive drugs in these patients will not be desirable …”

Section: Introductionmentioning

confidence: 99%

“…some cases, but in many cases the differential diagnosis from reactive thrombocytosis (RT) could be misleading. 3,4 Because in RT, the megakaryocytes are also larger and increased in number and could be difficult to be differentiated from ET, 5 clustering of megakaryocytes and abnormal morphology is helpful. 6 So, a substantial proportion of triple-negative patients with ET have evidence of polyclonal hematopoiesis and most likely do not have a true myeloproliferative neoplasm (MPN).…”

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confidence: 99%

“…The use of cytoreductive drugs in these patients will not be desirable. 4 We recently published a paper, in which we used IGF-1R quantification by flow cytometry; a substitution of performing EEC (endogenous erythroid colony) formation (2008 WHO criteria for PV 7 ) could be helpful in differentiating polycythemia from secondary polycythemia. 8 Now, we found similarly that IGF-1R determination is useful in differentiating between ET and RT.…”

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confidence: 99%

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Quantification of IGF‐1 receptor is useful in the differential diagnosis of essential thrombocytosis from reactive thrombocytosis

Wang

Shi

Wong

et al. 2019

European J of Haematology

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The 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia lists the criteria for diagnosing essential thrombocythemia (ET) as (a) platelet count more than 450 × 10 9 /L; (b) bone marrow biopsy showing proliferation mainly of the megakaryocyte lineage with increased numbers of enlarged, mature megakaryocytes with hyperlobulated nuclei; no significant increase or left shift in neutrophil granulopoiesis or erythropoiesis; and very rarely a minor (grade 1) increase in reticulin fiber; (c) not meeting WHO criteria for CML, PV, PMF, myelodysplastic syndromes, or other myeloid neoplasms; and (d) the presence of JAK2, CALR, or MPL mutation. The minor criteria include the presence of a clonal marker or the absence of evidence of reactive thrombocytosis. 1Among these criteria, the most reliable criteria for diagnosing ET are the "presence of JAK2, CALR, or MPL mutation". These mutually exclusive "driver" mutations have respective incidences of 55%, 25%, and 3%, and the remaining of 17% are so-called triplenegative ET. 2 These 17% of cases will need other criteria to make a definite diagnosis as ET. The bone marrow criterion is helpful in Abstract Background: To make a definite diagnosis of essential thrombocytosis (ET) from reactive thrombocytosis (RT), the most reliable criteria are the presence of driver mutations, namely JAK2, CALR, or MPL gene mutations. In the absence of these driver mutations, so-called triple-negative ET, the differential diagnosis could be difficult.Although bone marrow biopsy could be helpful, it may be difficult in some cases, to do gene sequence analysis to identify other clonal marker gene mutations than the driver mutations, as only very few were found. Methods: IGF-1R quantification by flow cytometry in mononuclear cells (MNC) fromperipheral blood was performed in 33 patients with ET (untreated or off treatment with hydroxyurea), 28 patients with RT, and 16 normal volunteer controls. Results:We found IGF-1R levels were significantly elevated in ET patients compared to RT patients or controls. A cutoff value of 253 was chosen from the logistic regression to predict each patient's group, a value ≥253 meant that a patient belonged to the ET group (sensitivity 96.4% and specificity 68.6%). Conclusion:We suggest that adding quantification of IGF-1R in blood MNC by flow cytometry is useful in differentiating ET from RT. K E Y W O R D Sessential thrombocytosis (ET), insulin-like receptor growth factor-1 receptor (IGF-1R), reactive thrombocytosis (RT) | 577 WANG et Al.

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Myeloproliferative and Myelodysplastic/Myeloproliferative Neoplasms and Related Conditions

2019

Bone Marrow Pathology

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Bone marrow histology for the diagnosis of essential thrombocythemia in children: a multicenter Italian study

Cited by 12 publications

References 23 publications

Essential thrombocythemia A retrospective case series

Essential thrombocythemia A retrospective case series

Quantification of IGF‐1 receptor is useful in the differential diagnosis of essential thrombocytosis from reactive thrombocytosis

Myeloproliferative and Myelodysplastic/Myeloproliferative Neoplasms and Related Conditions

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