Clinical utility gene card for: Hereditary thrombocythemia

Hussein, Kais; Percy, Melanie J.; McMullin, Mary Frances; Schwarz, Jiřı́; Schnittger, Susanne; Porret, Naomi; Martínez-Avilés, Luz; Paricio, Beatriz Bellosillo; Giraudier, Stéphane; Skoda, Radek C.; Lippert, Éric; Hermouet, Sylvie; Cario, Holger

doi:10.1038/ejhg.2013.117

Cited by 8 publications

(10 citation statements)

References 26 publications

(62 reference statements)

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“… 91 Although extremely rare, congenital limb defects have been observed in families with hereditary thrombocythemia. 91 – 94 Graziano et al 91 analyzed the TPO gene of one such patient with hereditary thrombocythemia and congenital unilateral limb defect (proband) and found similar limb defects in his first and third offspring. In 2012, the same group reported another family with hereditary thrombocythemia and limb defects.…”

Section: Controversies In the Effect Of Tpo-ra On The Fetus And The Nmentioning

confidence: 99%

Thrombopoietin receptor agonist for treatment of immune thrombocytopenia in pregnancy: a narrative review

Agarwal

Mangla

2021

Therapeutic Advances in Hematology

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The treatment of immune thrombocytopenia (ITP) in adults has evolved rapidly over the past decade. The second-generation thrombopoietin receptor agonists (TPO-RAs), romiplostim, eltrombopag, and avatrombopag are approved for the treatment of chronic ITP in adults. However, their use in pregnancy is labeled as category C by the United States Food and Drug Administration (FDA) due to the lack of clinical data on human subjects. ITP is a common cause of thrombocytopenia in the first and second trimester of pregnancy, which not only affects the mother but can also lead to thrombocytopenia in the neonatal thrombocytopenia secondary to maternal immune thrombocytopenia (NMITP). Corticosteroids, intravenous immunoglobulins (IVIGs) are commonly used for treating acute ITP in pregnant patients. Drugs such as rituximab, anti-D, and azathioprine that are used to treat ITP in adults, are labeled category C and seldom used in pregnant patients. Cytotoxic chemotherapy (vincristine, cyclophosphamide), danazol, and mycophenolate are contraindicated in pregnant women. In such a scenario, TPO-RAs present an attractive option to treat ITP in pregnant patients. Current evidence on the use of TPO-RAs in pregnant women with ITP is limited. In this narrative review, we will examine the preclinical and the clinical literature regarding the use of TPO-RAs in the management of ITP in pregnancy and their effect on neonates with NMITP.

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Section: Controversies In the Effect Of Tpo-ra On The Fetus And The Nmentioning

confidence: 99%

Thrombopoietin receptor agonist for treatment of immune thrombocytopenia in pregnancy: a narrative review

Agarwal

Mangla

2021

Therapeutic Advances in Hematology

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“…They concluded that FT has a milder clinical course than sporadic ET. Hussein et al 7 described another genetic variant of MPL (p.Ser505Asp) and noticed that it was not associated with neoplastic features, nor does it increase the risk of developing acute leukaemia. Nonetheless, it was associated with an increased risk of developing myelofibrosis among adults and elderly, but not in children.…”

Section: Introductionmentioning

confidence: 99%

“…They concluded that FT has a milder clinical course than sporadic ET. Hussein et al 7 . described another genetic variant of MPL (p. Ser505Asp ) and noticed that it was not associated with neoplastic features, nor does it increase the risk of developing acute leukaemia.…”

Section: Introductionmentioning

confidence: 99%

Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients

et al. 2021

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Familial thrombocytosis (FT) is a rare hereditary haematological disorder characterised by increased platelet count, usually caused by germ-line mutations in thrombopoietin (THPO), myeloproliferative leukaemia virus oncogene (MPL) or Janus kinase 2 (JAK2) genes, and can be associated with increased risk of thrombosis. We aimed to determine the yield of diagnostic tests, assess treatment received and describe the clinical course of MPL-associated FT. We retrospectively reviewed all paediatric and adult haematology patients diagnosed with MPL-related FT, who were seen in our clinics from March 2013 to February 2021. Of 64 eligible patients, 26 (41%) were aged <14 years, while the remaining 38 (59%) patients were adults. The median (interquartile range) age at diagnosis was 20 (33Á5) years. In all, 26 tribes were represented in this cohort of 64 patients, out of which 31 (48%) patients belonged to two tribes. A total of 60 patients (94%) had thrombocytosis on blood count. Additional genetic tests, including myelodysplastic syndrome (MDS) gene panel, Philadelphia gene breakpoint cluster region-Abelson (BCR-ABL) and JAK2, were carried out for 52 patients and only one patient was positive for JAK2 mutation. In all, 21 (33%) patients were prescribed aspirin and seven (11%) were prescribed hydroxyurea. Overall, 63 (98%) patients did not develop any thrombotic or haemorrhagic event. There was no significant association of MPL-mutated FT with thrombosis or haemorrhage.

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“…9,10 Therefore, these recent reports of germline JAK2 mutations in HT compel the incorporation of JAK2 gene analysis, including at least those exons that encode the pseudo-kinase and kinase domains, into the molecular diagnostic algorithm for suspected HT. 11 It is likely that further HT kindreds harbouring other JAK2 mutations will be discovered, with increasing characterization likely to improve our understanding of the genotype-phenotype relationship in both HT and MPN; the immediate goal being able to select appropriately targeted, JAK2 pathway inhibitor therapies currently available or in development for MPN patients.…”

mentioning

confidence: 99%

JAK2 mutations to the fore in hereditary thrombocythemia

Langabeer

2014

JAK-STAT

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Clinical utility gene card for: Hereditary thrombocythemia

Cited by 8 publications

References 26 publications

Thrombopoietin receptor agonist for treatment of immune thrombocytopenia in pregnancy: a narrative review

Thrombopoietin receptor agonist for treatment of immune thrombocytopenia in pregnancy: a narrative review

Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients

JAK2 mutations to the fore in hereditary thrombocythemia

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