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Lymphoid and Myeloid Malignancies
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Detecting numerical chromosomal abnormalities (monosomy 9 or trisomy 9) in hematological neoplasias by interphase cytogenetic analysis with ISH in BM or peripheral blood cells appears to be a clinically useful method.
Abnormal Anatomy of the Stomach and Duodenum
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
Rafal Kozielski, Sonal Desai, Daniel Gelfond
Intestinal malrotation is a congenital defect that occurs at approximately 10 weeks of embryonic life. Estimated incidence of anomalous intestinal rotation is approximately 1 in 500 live births. The overall incidence of malrotation is not known because some patients do not present until later in life or remain asymptomatic. Malrotation is more prevalent in trisomy 9, 13, 18, and 21 and is frequently associated with heterotaxia. Malformation results from failure of the intestine to undergo a normal 270 degree rotation during reduction of the midgut loop back into the abdomen following the temporary, physiologic herniation into the umbilical stalk.
Essential Thrombocythemia
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Chromosomal abnormalities in ET are very rare and most of the patients studied either were in leukemic transformation or had received treatment with cytotoxic agents. In the study by Panani et al. [21], of 67 cases with ET, 4 cases presented chromosomal abnormalities, which included del(5)(q13q33) (accompanied by trisomy 20 in 1 case), monosomy 17, trisomy 13, monosomy 14, and a small marker chromosome. In the series reported by Gangat et al. [22], the most common cytogenetic anomalies were trisomy 9, abnormal chromosome 1, and trisomy 8. Fluorescence in situ hybridization (FISH) studies detect chromosomal abnormalities more often than conventional cytogenetics, with trisomy 8 and 9 being often reported (the trisomies are detected by FISH usually in small subset of analyzed cells) [23].
High absolute basophil count is a powerful independent predictor of inferior overall survival in patients with primary myelofibrosis
Published in Hematology, 2018
Marko Lucijanic, Ana Livun, Tajana Stoos-Veic, Vlatko Pejsa, Ozren Jaksic, David Cicic, Jelena Lucijanic, Zeljko Romic, Biserka Orehovec, Gorana Aralica, Marko Miletic, Rajko Kusec
Our most interesting observation is the prognostic potential of ABC. ABC correlated with different known negative prognostic factors in PMF such as the DIPSS score [7] and related factors (WBC, circulatory blasts and constitutional symptoms), LDH [9], RDW [10] and AMC [11]. In addition, ABC bears powerful prognostic properties itself. This can be demonstrated both in univariate and in multivariate analyses in which effect was independent of the DIPSS and elevated monocyte count. This is of particular interest, because it suggests that although ABC and AMC are positively correlated and both probably represent stronger proliferative potential of disease, they seem to reflect different underlying pathophysiologic processes. It should be noted that basophilia has been reported in hematologic malignancies harboring lesions of chromosome 9, e.g. CML (Philadelphia chromosome t(9;22)(q34;q11)) [13,28,29] and acute myelogenous leukemia with t(6;9)(p23;q34) [34–36]. Trisomy 9 has been recognized as a recurrent cytogenetic abnormality in patients with PMF, usually with favorable prognosis if occurring as a sole abnormality [37–39], but can also be associated with additional cytogenetic lesions [38]. JAK2 gene is located on chromosome 9p24.1 and patients with PRV and ET seem to have higher JAK2 allele burden if harboring +9 [40]. We speculate that the increase in ABC seen in PMF patients could be mediated through lesions on chromosome 9 in which obviously a locus minoris resistentiae for disease exists. Also, since both ABC and AMC provide additional prognostic information independently of each other and established prognostic score, both ABC and AMC have a potential for improvement of current prognostic systems.
Developments in diagnosis and treatment of essential thrombocythemia
Published in Expert Review of Hematology, 2019
Barbara Mora, Francesco Passamonti
While suspecting ET, it is standard practice to perform also bone marrow aspirate to rule out the presence of myelodysplasia (MDS), especially the entity named MPN/MDS with ring sideroblasts and thrombocytosis [1]. Cytogenetic analysis, although not routinely done, might be of prognostic value [48]. Baseline chromosome abnormalities are identified in about 7% of ET cases, the most frequent being total/partial trisomy 1q, trisomy 8, trisomy 9, del(13q) and del(20q) [48,49].
Chromosomal microarray analysis detects trisomy 9 mosaicism in a prenatal case not revealed by conventional cytogenetic analysis of cord blood
Published in Journal of Obstetrics and Gynaecology, 2019
Hai-Shen Tang, De-Gang Wang, Lv-Yin Huang, Dong-Zhi Li
Like most other chromosome disorders, trisomy 9 mosaicism manifests with a low-birth weight and a wide spectrum of mental disabilities and multiple anomalies, although the overall phenotypes can vary widely between individuals (Arnold et al. 1995). Most of the cases were diagnosed after birth, and prenatal cases have also been reported to be associated with variable levels of mosaicism ranging from 3 to 99% (Bruns 2011). In prenatal diagnosis, three different levels of mosaicism can be detected in vitro on the amniotic fluid cells (Hsu and Benn 1999). Level 3 mosaicism is regarded as true mosaicism, which is present in foetal tissues. There is a study that investigated the foetal blood karyotyping in pregnancies with true mosaicism in amniotic fluid cell culture (Shalev et al. 1994). The authors concluded that, in the presence of amniotic fluid cell true mosaicism and normal karyotype in foetal blood, the continuation of the pregnancy is safe and is to be recommended. However, this might be a pitfall in the prenatal diagnosis of chromosomal mosaicism. As evidenced by our case, only 1% (1 in 100 cells) trisomy 9 mosaicism was detected by foetal cord lymphocyte karyotyping in the same blood with 60–70% mosaicism for trisomy 9. A single abnormal cell might be interpreted as an artefact of cell culture. Indeed, at least three similar cases have also been reported, in which trisomy 9 cells were found in the amniotic fluid cell cultures, but not in cord lymphocyte cultures (Sherer et al. 1992; Merino et al. 1993). The discordance might be due to several reasons. The chromosomal analysis of blood is done by stimulating peripheral T-lymphocyte cells using phytohemagglutinin (PHA). The aneuploid cells might be under-represented in the T-cell population in the circulation, if they are less competitive than the normal cells in the growth from the stem cell populations. Furthermore, the trisomy cell line can fail to respond to mitogens. For example, it is well-known that in Pallister–Killian syndrome patients, PHA fails to stimulate i(12p) lymphocytes to divide. The diagnosis of this disorder is confirmed by the use of chromosome analysis on cultured skin fibroblasts (Reeser and Wenger 1992). This data indicates that a foetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of foetal trisomy 9.