Page 248 - Haematologica March 2020

B. Federmann et al.
TP53 mutation in this study (5/7; 71%) most probably represents a natural bias since patients with nnMCL will usually seek medical attention only when the disease pro- gresses and becomes symptomatic. Nevertheless, we also confirmed the presence of a group of nodal cMCL with both classic and blastoid morphology with TP53 muta- tions and low SOX11 mRNA level. The reason why TP53 mutations are found preferentially in the negative/low
SOX11 group is not clear. The possible interaction between SOX11 and p53, if any, and the influence of loss of SOX11 in p53 function/mutation have not been explored and warrant further investigation.
In conclusion our data demonstrate that RNAscope ISH assay is a reliable method for the detection and quantifica- tion of target RNA and can be used to evaluate SOX11 mRNA expression accurately. This study also revealed a
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Figure 5. Leukemic non-nodal disease (nnMCL) mantle cell lymphoma (MCL) (case #15). (A-B) The cytology of the peripheral blood (A) and the bone marrow (B) shows a striking increase of small lymphocytes with rather round nuclei, condensed chromatin and scant cytoplasm; (C) Bone marrow biopsy shows a lymphoid infil- trate composed of small lymphocytes with round nuclei and scant cytoplasm (hematoxylin and eosin); (D) the tumor cells are positive for cyclin D1; (E) p53 is positive in 80% of the tumor cells; (F) the SOX11 stain is negative with only isolated positive cells; (G) the SOX11 RNA in situ hybridization (RNAscope) shows a score 0 with no staining. All original magnification 200x.
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haematologica | 2020; 105(3)