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A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints

Walid Al-achkar*, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman and Abdulsamad Wafa

Molecular Cytogenetics 2013, 6:18  doi:10.1186/1755-8166-6-18

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Response to: Partial isodicentric chromosome without mirror image?

Sam Rose   (2013-08-29 10:02)  BioMed Central

Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman, Abdulsamad Wafa, Thomas Liehr*

*Corresponding author

Uploaded by Sam Rose (Journal Development Editor) on behalf of the corresponding author


The answer to Dr. Juan Ramon Gonzalez Garcia or Martin Daniel Dominguez Cruz and Juan Ramon Gonzalez Garcia, in case there are two authors, is quite simple.

In multicolor banding (MCB) the pseudo color-band results as shown in Figure 3 of the paper in question [1] just give an easy understandable representation of the results. The results are deduced from the underlying fluorochrome profiles - for details on MCB see Ref. [2]. As shown in Fig. 1 enclosed here, the MCB-fluorochrome profiles clearly support the results as presented in [1].

In general, GTG-banding pattern is not sufficient or suited always to comprehensively clarify a karyotype; in contrary, 70% of GTG-banding results need a correction after MCB [3]. Thus, we used MCB, a fluorescence in situ hybridization (FISH)-banding approach which was shown to be reliable in several hundred publications [4] also in this study [1]. This was done also, as MCB is the only FISH-banding approach ever validated by FISH [5] and by array-comparative genomic hybridization [6]. However, MCB needs a lot of experienced to be interpreted correctly.

FIG-1 : Derivatives of chromosome 11 of the case presented in [1] depicted as pseudocolor-banding results as well as as fluorchromoprofile-results.

References:

[1] Al-Achkar W, Aljapawe A, Othman MAK, Wafa A: A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints. Mol Cytogenet 2013, 6:18

[2] Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A, Claussen U. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med. 2002 Apr;9(4):335-9.

[3] Manvelyan M, Schreyer I, Hols-Herpertz I, Kohler S, Niemann R, Hehr U, Belitz B, Bartels I, Gotz J, Huhle D, Kossakiewicz M, Tittelbach H, Neubauer S, Polityko A, Mazauric ML, Wegner R, Stumm M, Kupferling P, Suss F, Kunze H, Weise A, Liehr T, Mrasek K. Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med. 2007 Jun;19(6):855-64.

[4] Liehr T. 2013. Basics and literature on multicolor fluorescence in situ hybridization application. http://www.fish.uniklinikum-jena.de/mFISH/banding/MCB.html#hMCB. [accessed 07/23/2013]

[5] Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T. Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet. 2002 Jun;39(6):434-9.

[6] Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T, Kosyakova N. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem. 2008 May;56(5):487-93.

Competing interests

The author has no competing interests.

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Partial isodicentric chromosome without mirror image?

Juan Ramon Gonzalez Garcia   (2013-07-25 11:20)  Instituto Mexicano del Seguro Social email

Martin Daniel Dominguez Cruz and *Juan Ramon Gonzalez Garcia.
Division de Genetica, Centro de Investigacion Biomedica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Jalisco, Mexico.
MDDC e-mail, danieldcucba@hotmail.com
*Corresponding author JRGG e-mail, jrgg_gene@hotmail.com

Keywords
Array-proven multicolor banding, partial isodicentric chromosome, mirror image.

To the editor:
Walid Al-achakar et al. [1] described a case of acute myeloid leukemia (AML-M4) with a complex karyotype in which two der(11) chromosomes replaced both normal homologues. After G-banding, fluorescence in situ hybridization (FISH) and array-proven multicolor banding (aMCB) studies, they described the derivatives as der(11)(11qter->11p11.2::11p11.2->11q23::2p23->2pter) and der(11*)(11pter->11q13::22q11.2->22q13.3::11q13->11q21::7p12->7pter). There exists an inconsistence between the description of the former der(11) and its aMCB color pattern. This derivative is described as a partial isodicentric chromosome (11qter->11p11.2::11p11.2->11q23::) which should have the expected mirror image appearance depicted in the figure 1-A. However, the observed aMCB pattern looks very different from the expected one (figure 1-B). Other inconsistence is that apparently there is no color coincidence respect to the inserted segment (11q13->11q21) of the other der(11*) when this segment should be duplicated in the supposed partial isodicentric chromosome (see figure 3 in reference 1).
The results of centromere-specific (not shown) and MLL FISH studies (figure 2-B in reference 1) together with the pattern of the aMCB are rather compatible with a hypothetical tandem arrangement, tentatively described as der(11)(11qter->11q2?1::11q?->cen->11?::11q?23.2->11q2?1::11q2?3->11q?2::2p13->2pter). The identification of this complex chromosome is not easy since there is no normal chromosome 11. The inclusion of a normal chromosome 11 for comparison might have made easier the aMCB interpretation. Moreover, an image of the FISH results with the CEP-specific probes would also be useful. Anyway, this complex arrangement would require other specific strategies, like FISH with unique sequences, for its elucidation.

Figure Legend
Figure 1. der(11)(11qter->11p11.2::11p11.2->11q23::2p23->2pter) analysis by aMCB with the probe-set for chromosome 11. A- Graphic expected color distribution according to the cytogenetic description. B- der(11) chromosome image taken from the figure 3 in reference 1.

Authors' contributions
JRGG drafted the manuscript. Authors contributed, read, and approved the final version of the manuscript.
Endnotes
*Asterisk symbol is used to differentiate between both der(11) chromosomes.
References
1. Al-Achkar W, Aljapawe A, Othman MA, Wafa A: A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints. Mol Cytogenet 2013, 6:18.

Figure 1 hyper-link: https://d4r68a.bay.livefilestore.com/y2p-4jwDFMT9Lxi2Xz8anmUTVGPk7eEQY8YU-zhjIa7I4vYkJM-zX198CIa-aALfvnw_xJhfu2H-ZKC71oY4sQthOt6K4ZoK6Ldh7alvp-oKDlp23ksrwOo4gyaz4cueTKM/Figure%203.jpg?psid=1

Competing interests

The authors declare that they have no competing interests.

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