RUNX1 Familial Platelet Disorder 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
^ 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 .
^ 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 .
^ 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 .
^ 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 .
^ 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 .
^ 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 .
^ 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 .
^ 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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