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RUNX1 Familial Platelet Disorder

From Wikipedia, the free encyclopedia

RUNX1 Familial Platelet Disorder (RUNX1-FPD) also known as Familial platelet disorder with associated myeloid malignancies, FPDMM, is a rare inherited disease caused by one of over 100 known variants (i.e., mutations) in an individual’s RUNX1 gene. Low platelets and dysfunctional platelets, which cause heavier than average bruising and bleeding, are hallmarks of the disorder.[1] Individuals with RUNX1-FPD have a lifetime risk of being diagnosed with a hematologic malignancy of 35-45%.[2]

The most common hematologic malignancy diagnosed for these individuals is acute myeloid leukemia (AML) and Myelodysplastic syndrome (MDS). Additional HMs include Acute lymphoblastic leukemia (ALL), Chronic myelomonocytic leukemia, hairy-cell leukemia and Non-Hodgkin lymphoma (NHL).[3][4][5]

RUNX1-FPD patients often face a range of additional health issues including eczema,[citation needed] arthritis,[6] psoriasis,[7] asthma, allergies, autoimmune disorders and gastrointestinal problems.[8]

References

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  1. ^ Song, W. J.; Sullivan, M. G.; Legare, R. D.; Hutchings, S.; Tan, X.; Kufrin, D.; Ratajczak, J.; Resende, I. C.; Haworth, C.; Hock, R.; Loh, M.; Felix, C.; Roy, D. C.; Busque, L.; Kurnit, D. (1999). "Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia". Nature Genetics. 23 (2): 166–175. doi:10.1038/13793. ISSN 1061-4036. PMID 10508512.
  2. ^ Brown, Anna L.; Hahn, Christopher N.; Scott, Hamish S. (2020-07-02). "Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)". Blood. 136 (1): 24–35. doi:10.1182/blood.2019000937. ISSN 1528-0020. PMC 7332898. PMID 32430494.
  3. ^ Cunningham, Lea; Merguerian, Matthew; Calvo, Katherine R.; Davis, Joie; Deuitch, Natalie T.; Dulau-Florea, Alina; Patel, Nisha; Yu, Kai; Sacco, Keith; Bhattacharya, Sumona; Passi, Monica; Ozkaya, Neval; De Leon, Seila; Chong, Shawn; Craft, Kathleen (2023-12-21). "Natural history study of patients with familial platelet disorder with associated myeloid malignancy". Blood. 142 (25): 2146–2158. doi:10.1182/blood.2023019746. ISSN 1528-0020. PMC 10733826. PMID 37738626.
  4. ^ Sood, Raman; Kamikubo, Yasuhiko; Liu, Paul (2017-04-13). "Role of RUNX1 in hematological malignancies". Blood. 129 (15): 2070–2082. doi:10.1182/blood-2016-10-687830. ISSN 1528-0020. PMC 5391618. PMID 28179279.
  5. ^ Godley, Lucy A. (2014). "Inherited predisposition to acute myeloid leukemia". Seminars in Hematology. 51 (4): 306–321. doi:10.1053/j.seminhematol.2014.08.001. ISSN 1532-8686. PMID 25311743.
  6. ^ Tokuhiro, Shinya; Yamada, Ryo; Chang, Xiaotian; Suzuki, Akari; Kochi, Yuta; Sawada, Tetsuji; Suzuki, Masakatsu; Nagasaki, Miyuki; Ohtsuki, Masahiko; Ono, Mitsuru; Furukawa, Hidehiko; Nagashima, Masakazu; Yoshino, Shinichi; Mabuchi, Akihiko; Sekine, Akihiro (2003). "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis". Nature Genetics. 35 (4): 341–348. doi:10.1038/ng1267. ISSN 1061-4036. PMID 14608356.
  7. ^ Helms, Cynthia; Cao, Li; Krueger, James G.; Wijsman, Ellen M.; Chamian, Francesca; Gordon, Derek; Heffernan, Michael; Daw, Jil A. Wright; Robarge, Jason; Ott, Jurg; Kwok, Pui-Yan; Menter, Alan; Bowcock, Anne M. (2003). "A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis". Nature Genetics. 35 (4): 349–356. doi:10.1038/ng1268. ISSN 1061-4036. PMID 14608357.
  8. ^ Cunningham, Lea; Merguerian, Matthew; Calvo, Katherine R.; Davis, Joie; Deuitch, Natalie T.; Dulau-Florea, Alina; Patel, Nisha; Yu, Kai; Sacco, Keith; Bhattacharya, Sumona; Passi, Monica; Ozkaya, Neval; De Leon, Seila; Chong, Shawn; Craft, Kathleen (2023-12-21). "Natural history study of patients with familial platelet disorder with associated myeloid malignancy". Blood. 142 (25): 2146–2158. doi:10.1182/blood.2023019746. ISSN 1528-0020. PMC 10733826. PMID 37738626.
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