2022
DOI: 10.1007/s11899-022-00681-5
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Pediatric Germline Predisposition to Myeloid Neoplasms

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Cited by 2 publications
(5 citation statements)
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“…Genes that have been implicated with germline associations with hematological malignancies include RUNX1 ( 8 ), DDX41 ( 9 ), CEPBA ( 10 ), TERT ( 11 ), GATA2 ( 12 ), ETV6 ( 13 ), DNMT3A ( 14 ) ANKRD26 ( 15 ), and RAS-MAPK pathway genes ( 16 ). Specific inherited bone marrow failure syndromes such as Schwachman Diamond syndrome, Diamond Blackfan anemia, Fanconi syndrome, and short telomere syndrome may have associated characteristic physical findings or systemic features prompting suspicion ( 17 , 18 ). Germline tests may be more frequently ordered for individuals with a strong family history of cancer, multiple primary malignancies, early onset of cancer, cancers affecting both paired organs, and association with congenital anomalies ( 17 , 19 ).…”
Section: Differences Between Somatic and Germline Testsmentioning
confidence: 99%
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“…Genes that have been implicated with germline associations with hematological malignancies include RUNX1 ( 8 ), DDX41 ( 9 ), CEPBA ( 10 ), TERT ( 11 ), GATA2 ( 12 ), ETV6 ( 13 ), DNMT3A ( 14 ) ANKRD26 ( 15 ), and RAS-MAPK pathway genes ( 16 ). Specific inherited bone marrow failure syndromes such as Schwachman Diamond syndrome, Diamond Blackfan anemia, Fanconi syndrome, and short telomere syndrome may have associated characteristic physical findings or systemic features prompting suspicion ( 17 , 18 ). Germline tests may be more frequently ordered for individuals with a strong family history of cancer, multiple primary malignancies, early onset of cancer, cancers affecting both paired organs, and association with congenital anomalies ( 17 , 19 ).…”
Section: Differences Between Somatic and Germline Testsmentioning
confidence: 99%
“…Her parents and siblings are well with no known medical conditions. Her full blood count showed an increase in total white cell count with monocytosis—white blood cells, 18.3 × 10 9 /L ( 6 18 ); hemoglobin, 9.9 g/dL (11.1–14.1); platelets, 107 × 10 9 /L (140–440); neutrophils, 6.41 × 10 9 /L (1.00–6.00); monocytes, 3.66 × 10 9 /L (0.2–1.2); blasts, 2%; promyelocytes, 1%; myelocytes, 2%; and metamyelocytes, 1%. Examination of the blood film showed a leukoerythroblastic blood film with monocytosis and blasts seen, suggestive of a myeloproliferative neoplasm.…”
Section: Casementioning
confidence: 99%
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“…Up until now, three different mechanisms of genetic reversion have been identified [192]. First, loss of heterozygosity of chromosome 7q with uniparental disomy (UPD) could result in the loss of the mutant allele [192,193]. Second, in cis LOF mutations could counteract the GOF mutations and cause a recovery of the cytopenia.…”
Section: Other Germline Predisposition For Mds/amlmentioning
confidence: 99%