Medicine:RUNX1 familial platelet disorder

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Short description: Medical condition


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 (HM) 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, arthritis,[6] psoriasis,[7] asthma, allergies, autoimmune disorders and gastrointestinal problems.[8]

References

  1. ↑ Song, W. J.; Sullivan, M. G.; Legare, R. D.; Hutchings, S.; Tan, X.; Kufrin, D.; Ratajczak, J.; Resende, I. C. et al. (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. PMID 32430494. 
  3. ↑ Cunningham, Lea; Merguerian, Matthew; Calvo, Katherine R.; Davis, Joie; Deuitch, Natalie T.; Dulau-Florea, Alina; Patel, Nisha; Yu, Kai et al. (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. 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. 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 et al. (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 et al. (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 et al. (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. PMID 37738626. 

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