2016
DOI: 10.1182/blood.v128.22.4299.4299
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Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism

Abstract: Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic diseases characterized by impaired hematopoiesis and progression to acute myeloid leukemia (AML). Although rare, several monogenic causes of familial MDS/AML have recently been molecularly defined. We studied two families with variable manifestation of cytopenia, MDS with cytogenetic aberrations involving chromosome 7, immunodeficiency, and neurologic disease consistent with ataxia-pancytopenia syndrome. Genetic stud… Show more

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“…1 Several reports in the literature favor genetic testing for hereditary conditions predisposing to MN for all young patients. 5,43 That said and for the time being, our working group proposes that among young patients (<50 at diagnosis) without a family or personal history only those with aberrations of chromosome 7 (monosomy 7/del(7q or other aberrations with loss of 7q material), which is particularly common in GATA2-and SAMD9/SAMD9L-related disorders 16,17,[44][45][46] should be further referred for genetic counseling/testing.…”
Section: Criteria For Whom To Testmentioning
confidence: 99%
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“…1 Several reports in the literature favor genetic testing for hereditary conditions predisposing to MN for all young patients. 5,43 That said and for the time being, our working group proposes that among young patients (<50 at diagnosis) without a family or personal history only those with aberrations of chromosome 7 (monosomy 7/del(7q or other aberrations with loss of 7q material), which is particularly common in GATA2-and SAMD9/SAMD9L-related disorders 16,17,[44][45][46] should be further referred for genetic counseling/testing.…”
Section: Criteria For Whom To Testmentioning
confidence: 99%
“…[1][2][3][4] At the same time, several new genes associated with familial MDS or AML, with or without syndromic features, have been recently discovered, such as GATA2, ETV6, DDX41, SAMD9, and SAMD9L. [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] In 2016, myeloid neoplasms with germline predisposition were included as a new dedicated entity in the revision of the WHO classification of myeloid neoplasms (Table 1), thus acknowledging the clinical importance of recognizing these disorders during the diagnostic work-up of patients with MN. 21 Consideration of MDS or AML germline predisposition syndromes has also been integrated in the clinical management guidelines of patients with MDS or AML of the European Leukemia Net and the National Comprehensive Cancer Network.…”
Section: Introductionmentioning
confidence: 99%
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