Juvenile myelomonocytic leukaemia and Noonan syndrome
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چکیده
منابع مشابه
Juvenile myelomonocytic leukaemia and Noonan syndrome
Juvenile myelomonocytic leukaemia and Noonan syndrome Marion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine Paillard, Corinne Alberti, Martin Zenker, Christine Chomienne, Yves Bertrand, André Baruchel, Alai...
متن کاملJuvenile myelomonocytic leukemia and Noonan syndrome.
A case of juvenile myelomonocytic leukemia (JMML, previously referred to as JCML) in a neonate with Noonan syndrome (NS) is described. The boy presented with bilateral congenital hydrothoraces, nonimmune hydrops, dysmorphic facies, persistent thrombocytopenia, and leukocytosis. The diagnosis of JMML was made on bone marrow cell culture studies. Review of the literature reveals an unusual prepon...
متن کاملThe mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML). Myeloproliferative disorders (MPDs), either transient or more fulminant forms, can also occur in infants with NS (NS/MPD). We identified PTPN11 mutations in blood or bone marrow specimens from 77 newly rep...
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Juvenile xanthogranuloma (JXG) is a benign, self-healing, non-Langerhans cell histiocytosis characterized by accumulation of lipid-laden macrophages. It occurs most commonly on the head and neck of infants and young children and resolves spontaneously without treatment [1]. Lesions may be single or multiple, congenital or acquired. Size varies from few millimetres to several centimetres. Two ma...
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This paper presents a summary of the evidence review group (ERG) report into the clinical effectiveness and cost-effectiveness of azacitidine (aza) compared with conventional care regimes (CCR) for higher risk patients with myelodysplastic syndrome (MDS), chronic myelomonocytic leukaemia (CMML) and acute myeloid leukaemia (AML), based on the evidence submission from the manufacturer to the Nati...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2014
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2014-102611