Acquired pericentric inversion of chromosome 9 in essential thrombocythemia

Wan, T. S. K.; K., S.; Li, Chan

doi:10.1007/s004390050041

Cited by 20 publications

(10 citation statements)

References 12 publications

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“…However, as the b-satellite probe used in these studies is no longer available, we can only speculate that our inversions type var1 and var2 could be subdivided into the same subtypes. An acquired inv(9)(p11q13) has been described in essential thrombocytothemia, 24 but the type of inversion is not evident from the literature. Healthy individuals with a 9ph+ variant have been reported.…”

Section: Discussionmentioning

confidence: 99%

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

Starke

Seidel

Henn³

et al. 2002

Eur J Hum Genet

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A thorough study of the heterochromatin organisation in the pericentromeric region and the proximal long (q) and short (p) arms of human chromsome 9 (HSA 9) revealed homology between 9p12 and 9q13-21.1, two regions that are usually not distinguishable by molecular cytogenetic techniques. Furthermore, the chromosomal regions 9p12 and 9q13-21.1 showed some level of homology with the short arms of the human acrocentric chromosomes. We studied five normal controls and 51 clinical cases: 48 with chromosome 9 heteromorphisms, one with an exceptionally large inversion and two with an additional derivative chromosome 9. Using fluorescence in situ hybridisation (FISH) with three differentially labelled chromosome 9-specific probes we were able to distinguish 12 heteromorphic patterns in addition to the most frequent pattern (defined as normal). In addition, we studied one inversion 9 case with the recently described multicolour banding (MCB) technique. Our results, and previously published findings, suggest several hotspots for recombination in the pericentromeric heterochromatin of HSA 9. They also demonstrate that constitutional inversions affecting the pericentromeric region of chromosome 9 carry breakpoints located preferentially in 9p12 or 9q13-21.1 and less frequently in 9q12.

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Section: Discussionmentioning

confidence: 99%

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

Starke

Seidel

Henn³

et al. 2002

Eur J Hum Genet

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“…For instance, few reports indicated an excess of inv (9) in patients with Acute leukemia [10,11], but others failed to show similar results [12][13].…”

Section: Discussionmentioning

confidence: 99%

Constitutional Pericentric Inversion of Chromosome 9 and Chronic Myeloid Leukemia

Vaniawala¹

2014

AJCEM

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Abstract:In the present study, we screened the bone marrow chromosome database entries between March, 2004 and December, 2013 to identify cases with inv(9) along with t(9;22) variations. Our study recorded 2300 cases of confirmed CML (Ph positive), of which only 12 (0.52%) cases had inv(9) and t(9;22). The association between inv(9) and t(9;22) is not fully explored. Therefore more number of cases is required to shed light on its important role, if any, especially in bone-marrow transplantation and drug resistance.

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“…There have been very few reports on the inv(9) variation as an acquired chromosomal abnormality in hematologic malignancies [4,5], and such variations are generally regarded as a constitutional abnormality with familial inheritance. Keung et al [1] have reported constitutional pericentric inversion in chromosome 9 at a frequency of 0.8-2% in normal population and at a similar frequency in AL patients.…”

Section: Discussionmentioning

confidence: 99%

Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia

et al. 2010

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218Background : Although the pericentric inversion of chromosome 9, inv(9)(p11q13), is generally considered a normal variation, it is also associated with solid tumors and several hematologic malignancies such as biphenotypic acute leukemia, ALL, AML, and myeloproliferative neoplasms. However, to the best of our knowledge, there have been no reports that suggest an association between CML and constitutional pericentric inversion of chromosome 9. The purpose of this retrospective study was to investigate the frequency and clinical features of CML patients with concomitant inv(9) and t(9;22)(q34;q11.2) variation at our institution.Methods : We reviewed the bone marrow chromosome database entries between October 2006 and December 2008 to identify patients with concomitant inv(9) and t(9;22) variations. Laboratory and clinical data of the patients were obtained from the electronic medical record system.Results : Among the 51 CML patients, 4 (7.8%) had concomitant inv(9) and t(9;22) variations. Conclusions : Although the association between inv(9) variation and CML is still controversial, we believe that hematologists should consider the role of constitutional inv(9) variation in CML patients to avoid overlooking the impaired engraftment potential of hematopoietic stem cells harboring inv(9). Therefore, we suggest that more effort should be invested to develop cytogenetic tests for detecting constitutional inv(9) variation in CML patients. (Korean J Lab Med 2010;30:218-23)

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Acquired pericentric inversion of chromosome 9 in essential thrombocythemia

Cited by 20 publications

References 12 publications

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

Constitutional Pericentric Inversion of Chromosome 9 and Chronic Myeloid Leukemia

Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia

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