Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

[1] Schubbert S(2006)Germline KRAS mutations cause Noonan syndrome Nat Genet 38 331-336

[2] Zenker M(2006)Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome Nat Genet 38 294-296

[3] Rowe SL(2007)Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations J Med Genet 44 131-135

[4] Böll S(2010)Biological and clinical significance of KRAS mutations in lung cancer: an oncogenic driver that contrasts with EGFR mutation Cancer Metastasis Rev 29 49-60

[5] Klein C(2005)The KRAS oncogene: past, present, and future Biochim Biophys Acta 1756 81-82

[6] Bollag G(2011)The phenotype of recurrent 10q22q23 deletions and duplications Eur J Hum Genet 19 400-408

[7] van der Burgt I(2005)Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes PLoS Genet 1 e49-1074

[8] Musante L(2006)Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes Am J Hum Genet 78 1066-3543

[9] Kalscheuer V(1997)Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases Blood 89 3534-5480

[10] Wehner LE(2007)Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations Blood 109 5477-787

[1] Schubbert S(2006)Germline KRAS mutations cause Noonan syndrome Nat Genet 38 331-336

[2] Zenker M(2006)Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome Nat Genet 38 294-296

[3] Rowe SL(2007)Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations J Med Genet 44 131-135

[4] Böll S(2010)Biological and clinical significance of KRAS mutations in lung cancer: an oncogenic driver that contrasts with EGFR mutation Cancer Metastasis Rev 29 49-60

[5] Klein C(2005)The KRAS oncogene: past, present, and future Biochim Biophys Acta 1756 81-82

[6] Bollag G(2011)The phenotype of recurrent 10q22q23 deletions and duplications Eur J Hum Genet 19 400-408

[7] van der Burgt I(2005)Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes PLoS Genet 1 e49-1074

[8] Musante L(2006)Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes Am J Hum Genet 78 1066-3543

[9] Kalscheuer V(1997)Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases Blood 89 3534-5480

[10] Wehner LE(2007)Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations Blood 109 5477-787