Duplication of Band 12q24 in Acute Myeloblastic Leukemia

Bonomi, Rossana; Coniat, Maryvonne Le; Leblanc, T; Berger, Roland

doi:10.1016/s0165-4608(98)00094-6

Cited by 5 publications

(3 citation statements)

References 30 publications

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“…However, characteristic for Noonan syndrome, pulmonic valve stenosis, lymphedema, coagulation defects, and juvenile myelomonocytic leukemia were not reported in the reviewed patients. We were able to identify a report of two patients with acute myeloblastic leukemia (FAB classification, subtypes M1 and M2) found to have dup (12)(q24) in their bone marrow aspirates [Bonomi et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Shchelochkov

Patel

Weissenberger

et al. 2008

American J of Med Genetics Pt A

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Noonan syndrome is an autosomal dominant disorder with an estimated incidence of 1 in 1,000 to 1 in 2,500 live births. It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities. Gain-of-function mutations in the PTPN11, KRAS, SOS1, and RAF1 genes that are components of the RAS/MEPK signaling pathway are identified in about 70-85% of individuals with Noonan syndrome. We report here a case of duplication of chromosome region 12q24.11q24.23 identified by array comparative genomic hybridization (aCGH) that includes the PTPN11 gene in a 3-year-old girl with apparent Noonan syndrome. The patient presented with postnatal-onset failure-to-thrive, developmental delay, microcephaly, velopalatal incompetence, pectus excavatum, coarctation of aorta, atrial and ventricular septal defects, decreased muscle tone, and minor facial anomalies consistent with Noonan syndrome. At 3 years of age her speech, gross and fine motor development were at the level of a 12-18 month old child. This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality. Array-CGH showed an interstitial duplication of 10 Mb including the PTPN11 gene. Sequencing of PTPN11, KRAS, SOS1 and the coding region of RAF1 did not identify mutations. The increased gene dosage of the PTPN11 gene in the form of duplication is expected to have the same consequence as gain-of-function mutations seen in Noonan syndrome. We propose that at least some of the 15-30% of individuals with Noonan syndrome who do not have a mutation by sequencing may have a gain in copy number of PTPN11 and recommend that comprehensive testing for Noonan syndrome should include analysis for copy number changes of PTPN11.

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Section: Discussionmentioning

confidence: 99%

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Shchelochkov

Patel

Weissenberger

et al. 2008

American J of Med Genetics Pt A

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show abstract

“…However, characteristic for Noonan syndrome, pulmonic valve stenosis, lymphedema, coagulation defects, and juvenile myelomonocytic leukemia were not reported in the reviewed patients. We were able to identify a report of two patients with acute myeloblastic leukemia (FAB classification, subtypes M1 and M2) found to have dup(12)(q24) in their bone marrow aspirates [Bonomi et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

Repeated impacts tests and nanoindentation as complementary tools for mechanical characterization of polymer‐coated particles

Perfetti

Arfsten

Kwade

et al. 2010

J of Applied Polymer Sci

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Polymer-coated particles have been produced by applying two grades of hydroxypropyl methylcellulose and one grade of polyvinyl alcohol onto sodium benzoate Purox-S core particles by using top-spray fluid bed coater and then stored under two different conditions, namely ambient conditions (23 C, 55% RH) and in the freezer (À18 C, 25% RH). Surface morphology has been firstly analyzed using scanning electron microscope and atomic force microscope. Resistance to attrition and viscoelastic properties have been measured by repeated impact tester (RIT) and nanoindentation, respectively. The resistance to attrition have been discussed as function of type of coating materials, breakage mechanisms, and storage temperature, and then compared with uncoated Purox-S. The storage conditions is not influencing the morphology, whereas is strongly affecting the resistance to attrition. Coated particles stored at À18 C were found to be more resistant to attrition than ones stored at room conditions. Such differences negligible at low energies (low numbers of impacts) increase as soon as the number of impacts and the energy rise. The improvement in the resistance to attrition was related to the plasticizing effect of water content. Displacement, storage modulus (E 0 ), loss modulus (E 00 ), and damping factor (tan d) have been measured for all coated particles. Quasistatic and dynamic nanoindentation were found to agree very well with each other. Comparison of the nanoindentation results and the RIT results showed that tan d, as measure of viscoelasticity and flexibility of the polymeric coating material, is related to the attrition behavior. It was found, in fact, that a higher tan d gives more resistance to attrition.

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“…This alteration has been recently found in a Noonan syndrome-like patient without mutations in the PTPN11 gene, 11 and in two patients with acute myeloblastic leukemia. 12 Of note, increased expression of SHP2 has been shown to potentially contribute to leukemogenesis. 13 In this patient, the amplification was associated with a PTPN11 mutation.…”

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confidence: 99%

PTPN11 mutations in childhood acute lymphoblastic leukemia occur as a secondary event associated with high hyperdiploidy

et al. 2009

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The protein tyrosine phosphatase, non-receptor type 11 (PTPN11) gene encodes SHP-2, a phosphatase involved in many signaling pathways, with a key role in development and hematopoiesis. Somatic PTPN11 mutations were found with variable prevalences in pediatric leukemia, most frequently associated with juvenile myelomonocytic leukemia (JMML).1,2 In vitro and in vivo studies, mainly in a myeloid context, demonstrated a crucial involve- ment of PTPN11 mutations in the hyperactivation of the RAS/ERK pathway.3 The oligoclonality of transgene integration sites, and the long latency before overt leukemia in mice transduced with mutant PTPN11,3 suggested that additional molecular lesions are needed to cooperate with PTPN11 mutations in leukemogenesis. This observation is in line with the ‘two hit model’ proposed by Greaves4 for B-cell precursor childhood acute lymphoblastic leukemia (ALL), in which an initiating alteration, often occurring prenatally, gives rise to a preleukemic clone, which eventually becomes fully malignant by subsequent acquisition of other molecular alterations

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Duplication of Band 12q24 in Acute Myeloblastic Leukemia

Cited by 5 publications

References 30 publications

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Repeated impacts tests and nanoindentation as complementary tools for mechanical characterization of polymer‐coated particles

PTPN11 mutations in childhood acute lymphoblastic leukemia occur as a secondary event associated with high hyperdiploidy

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