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Case Reports
. 2020 Sep;190(5):e316-e320.
doi: 10.1111/bjh.16897. Epub 2020 Jun 22.

Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

Antoine N Saliba  1 , Alejandro Ferrer  2 , Naseema Gangat  1 , Rajiv K Pruthi  1 , Ayalew Tefferi  1 , Alexandra Higgins  1 , Evandro D Bezerra  1 , Alessia Buglioni  3 , Mohamed E Salama  3 , Eric W Klee  2 , Filippo Pinto E Vairo  2   4 , Abhishek Mangaonkar  1 , Julie Majerus  3 , Dong Chen  3 , Mrinal M Patnaik  1
Affiliations
Case Reports

Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

Antoine N Saliba et al. Br J Haematol. 2020 Sep.
No abstract available

Keywords: G6B; Myelofibrosis; congenital thrombocytopenia; gray platelet syndrome; inherited platelet disorders.

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References

    1. Tefferi A, Lasho TL, Finke CM, Knudson RA, Ketterling R, Hanson CH, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia. 2014;28:1472-7.
    1. Delario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C, 2nd, Webb, CR, Lopez-terrada, D & Venkateswaran, L Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis-an entity different from adults. Am J Hematol. 2012;87:461-4.
    1. Hofmann I, Geer MJ, Vogtle T, Crispin A, Campagna DR, Barr A, et al. Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Blood. 2018;132:1399-412.
    1. Melhem M, Abu-Farha M, Antony D, Madhoun AA, Bacchelli C, Alkayal F, et al. Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia. Eur J Haematol. 2017;98:218-27.
    1. Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med. 2014;370:245-53.

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