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Karyotype and FISH analysis (Case 7). Notes: Numbers 1–22 represent chromosomes. (A) Karyotype of diploidy (R-banding): 46, XY, t (8;21)(q22;q22). 8q-(red arrow) and 21q+ (green arrow). (B) Karyotype of tetraploidy (R-banding): 92, XXYY, t(8;21)(q22;q22)×2. 8q-(red arrow) and 21q+ (green arrow). (C) FISH analysis with GLP RUNX1–RUNX1T1 dual color fusion probe (located at 21q22/8q22). Revealing 2F4O4G signals. Two fusions on the end of 21q+, four red signals (red arrow) are on native chromosome 8 and 8q−, two green signals proximal to the centromere of 21q+ (yellow arrow), and two native chromosome 21 (green arrow). (D) FISH analysis with GLP C-MYC dual color break-apart probe (located at 8q24); the picture displays that 8q24 (MYC) (red arrow) had not moved to 21q+. (E) FISH analysis with GLP ETV6–RUNX1 dual color fusion probe (located at 12p13/21q22). Tetraploidy metaphase shows red signals (red arrow) on chromosome 12, and six green signals (green arrow) consist of two on native chromosome 21 and four on 21q+×2. Magnification ×1000. Abbreviation: FISH, fluorescence in situ hybridization.
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Background
Near-triploidy/tetraploidy is rarely found in acute leukemia. Only limited data are available to characterize this condition, and it remains largely unknown.
Patients and methods
In our study, we performed karyotype analysis on 1,031 patients diagnosed with acute leukemia from 2006 to 2018. A total of 10 patients of near-triploidy/tetra...
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Citations
... FISH technology finds wide application in medical diagnosis, including tumor diagnosis, genetic disease screening, and embryo genome analysis. Its potential in the early diagnosis, prognosis, and treatment of leukemia, cancer, Down syndrome, and other conditions is significant [3][4][5]. This technique enables the quantification and localization of specific genes providing crucial information for disease diagnosis and treatment. ...
Fluorescence in situ hybridization (FISH) is a powerful cytogenetic method used to precisely detect and localize nucleic acid sequences. This technique is proving to be an invaluable tool in medical diagnostics and has made significant contributions to biology and the life sciences. However, the number of cells is large and the nucleic acid sequences are disorganized in the FISH images taken using the microscope. Processing and analyzing images is a time-consuming and laborious task for researchers, as it can easily tire the human eyes and lead to errors in judgment. In recent years, deep learning has made significant progress in the field of medical imaging, especially the successful application of introducing the attention mechanism. The attention mechanism, as a key component of deep learning, improves the understanding and interpretation of medical images by giving different weights to different regions of the image, enabling the model to focus more on important features. To address the challenges in FISH image analysis, we combined medical imaging with deep learning to develop the SEAM-Unet++ automated cell contour segmentation algorithm with integrated attention mechanism. The significant advantage of this algorithm is that it improves the accuracy of cell contours in FISH images. Experiments have demonstrated that by introducing the attention mechanism, our method is able to segment cells that are adherent to each other more efficiently.
... Thus, FISH is routinely utilized by clinical diagnostic laboratories to overcome this limitation. [10] In our case, we supplemented our karyotyping findings with FISH panel. ...
Blast ploidy is a distinctive cytogenomic feature related to prognostic outcome of Acute lymphoblastic leukaemia (ALL) patients. Near-tetraploidy (NT) (81-103 chromosomes) is a very rare ploidy anomaly in (ALL). It is observed in approximately 1% of childhood B cell precursor ALL (BCP-ALL). In T-ALL specifically in adult T-ALL it is furthermore rare entity. There are only few case reports are found in existing literature. Compared to BCP-ALL, T-ALL lacks recurrent genetic anomalies with independent prognostic value. Although B cell ALL associated with near tetraploidy is related to a standard cytogenomic risk, the prognostic outcome of NT in T-cell ALL is yet to be determined. Conventional karyotyping of this entity is difficult to perform and interpret. Thus, it is recommended that karyotype results should be supplemented by Fluorescence in situ hybridization (FISH) . Herewith, we present an adult T-acute lymphoblastic leukaemia case detected with near-tetraploid karyotype with emphasis on prognostic significance.
The prognostic significance and optimal management of tetraploidy/near-tetraploidy acute myeloid leukemia (T/NT AML) remains unclear given its limited data. This is especially true after factoring in additional chromosomal alterations, which carry their own prognostic weight. Here, we analyze 128 cases of T/NT in AML from the literature along with two additional cases, which is the largest review of this subject to date. Based on our retrospective analysis, we found that regardless of the risk status attributed to cytogenetics, the prognosis of tetraploid or near-tetraploid AML is dismal and should be incorporated within the unfavorable risk group. Complete remission is paramount to survival in this population. Specific induction protocols for high-risk AML appear to have higher rates of complete remission in the T/NT AML population. Moreover, longer overall survival can be achieved with chemotherapy followed by allogeneic stem cell transplantation at first complete remission.
