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Other Myeloproliferative Neoplasms
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Usually, cytogenetic analysis is normal, with FIP1L1–PDGFRA fusion gene resulting from cryptic del(4)(q12). Occasionally, there is a chromosomal rearrangement with a 4q12 breakpoint such as t(1;4) or t(4;10). In other patients, unrelated cytogenetic abnormality, such as trisomy 8, may be seen. The fusion gene can be detected by reverse transcriptase polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) studies using a probe for CHIC2 gene, which is uniformly deleted, or using a break-apart probe that encompasses FIP1L1 and PDGFRA.
Neurological problems
Published in Janet M Rennie, Giles S Kendall, A Manual of Neonatal Intensive Care, 2013
Janet M Rennie, Giles S Kendall
This diagnosis is made antenatally or postnatally with ultrasound and confirmed on MR scanning. There is an association with trisomy 8, but often the abnormality is an isolated problem. Prognosis is then uncertain, but perhaps 50% of children are normal.
Conventional and Molecular Cytogenetics of Ph-Negative Chronic Myeloproliferative Disorders
Published in Richard T. Silver, Ayalew Tefferi, Myeloproliferative Disorders, 2007
Gain of chromosome 8 is a nonrandom recurrent abnormality in Ph-negative MPD; it is also one of the three most frequent abnormalities in MDS and is present in 10% of the patients with malignant hematopoietic disorders of both myeloid and lymphoid lineages. In PV, trisomy 8 was demonstrated in myeloid cells characterized by CD11c and CD14 but not in lymphoid cells expressing CD33 and CD22 antigens (44). Interestingly, CD34+ cells, which are the precursors of myeloid as well as lymphoid cells, also had trisomy 8. The prognostic significance in PV is unknown but its indolent clinical impact may be evidenced by the observations that some patients with PV have trisomy 8 for over 20 years (45). In contrast, recent evidence suggested that in myelofibrosis, gain of chromosome 8 may be associated with poor prognosis (46). Such a negative prognostic impact of trisomy 8 could not be demonstrated in 107 patients who were retrospectively evaluated using FISH methodology on paraphin-embedded bone marrow sections (38). A unique observation for PV is the simultaneous presence of both 8 and 9. It is very rarely seen in any other hematological malignancies and it is a recurrent finding in PV, with the frequency of approximately 3–4%.
First trimester prenatal detection of mosaic trisomy 8
Published in Journal of Obstetrics and Gynaecology, 2021
Li Wan, Dan Yang, Bi-Qiu Xu, Li Zhen, Yan-Dong Yang, Dong-Zhi Li
Mosaic trisomy 8 is the result of a post-zygotic event. Unlike complete trisomy 8, which is due to a chromosome segregation error during gamete formation in meiosis and often results in first trimester loss, patients with mosaic trisomy 8 can survive. However, the phenotype is highly variable, ranging from normal individual to severe degree of malformations. The phenotypic features involve central nervous, ocular, cardiac, gastrointestinal, genitourinary and musculoskeletal abnormalities (Datta et al. 2010). Prenatal diagnosis of mosaic trisomy 8 is uncommon, as it is usually detected incidentally by cytogenetic investigation of chorionic villi or amniocytes (van Haelst et al. 2001). We report here a case of mosaic trisomy 8 with first-trimester sonographic cleft palate that was identified by non-invasive prenatal testing (NIPT).
Trisomy 8 in acute myeloid leukemia
Published in Expert Review of Hematology, 2019
Anette Lodvir Hemsing, Randi Hovland, Galina Tsykunova, Håkon Reikvam
Trisomy 8 could exist as a sole chromosomal aberration, or in occurrence with other AML cytogenetic features. It exists as a sole cytogenetic alteration in 30–40% of cases, and in occurrence with other cytogenetic aberrations in 60–70% of cases, both in adult and pediatric AML [15–18]. Trisomy 8 is often seen in the group consisting of transcription factor fusions, were it occurs in about 15% of patients with the aberrations inv(16)/t(16;16)(p13;q22) or t(15;17)(q22;q21), and to a less extent in patients with t(8;21)(q22;q22) (Table 1). It can also be seen together with more seldom translocations, including t(3;21)(q26;q22) [19], t(6;9)(p23;q34) [20], t(7;12)(q36;p13) [21], and t(16;21)(q24;q22) [22,23]. Trisomy 8 is also found in rearrangement involving the q23 band in chromosome 11q23, namely t(v;11q23.3) [18,24], associated with KMT2A rearrangement. It is also frequently found in NUP98 rearrangements (t(v;11p15)), and NUP98 is apparently frequent in childhood AMLs with poor outcome and can easily be overlooked as it results in only minor visual chromosomal alterations [25].
Sex chromosome changes in leukemia: cytogenetics and molecular aspects
Published in Hematology, 2018
Saeid Shahrabi, Elahe Khodadi, Fakhredin Saba, Mohammad Shahjahani, Najmaldin Saki
In addition to classic t(9; 22) (q34; q11) in philadelphia chromosome, 3–5% of CML patients have ACA. CE is a criterion to define the accelerated phase in CML, which is associated with poor prognosis. LOY can, sometimes, be observed in ph+ patients as ACA or CE. However, it is difficult to determine the prognosis of patients with LOY [2,26]. Although CML is recognized by t(9; 22) (q34; q11) BCR-ABL1, ACA is usually manifested in the accelerated phase (AP) and the blast phase (BP). Despite the relationship between ACA and disease progression in CML, the role of ACA alone is unknown in this respect and a classification system similar to MDS and AML seems to be necessary for CML [27]. In some studies, cytogenetic abnormalities in CML have been classified as major and minor. The former are common and include i(17) (q10), trisomy 8, and trisomy 19. The rest of the cases are uncommon and are associated with minor changes. This classification is based only on the frequency of ACAs and does not specify the prognosis or response to treatment in patients [28,29]. Chromosomal changes in CML during CE are highly heterogeneous, and it seems logical that different chromosomal changes cause a variety of changes in the disease process. Some changes simply reflect the genetic instability induced by BCR-ABL1, while others are indicative of disease progression and resistance to therapy [30]. Although some studies indicate that major changes are associated with poor prognosis, others have shown that the major change of trisomy 8 has been associated with good prognosis and response to treatment. Notably, the association between this disorder and other chromosomal changes has led to poor prognosis in patients. Although some studies have given controversial results for a prognostic role of the Y chromosome in CML, these patients usually have a good prognosis [31,32].