A Chronic Myelogenous Leukemia (CML) Case with a Cryptic Insertion of the ABL1 Gene of Chromosome 9 into 22 Resulting in a Fusion Signal on the Derivative 22: 46,XY.ish ins(22;9)(q11 .2;q34q34)BCR+,ABL1 +

Boles, John; DeNicola, Matthew; Collins, Robert; Garcia, Rolando; Patel, Sangeeta; Satayasoontorn, Kantang; Tirado, Carlos A.
March 2013
Journal of the Association of Genetic Technologists;2013 1st Quarter, Vol. 39 Issue 1, p21
Academic Journal
Case Study
The article presents a case study of a 49-year-old man who presented to a medical facility with splenomegaly, vertigo, and a high white blood cell (WBC) count. Topics include a diagnosis of chronic myelogenous leukemia (CML), which is a genetic disorder characterized by the specific cytogenetic translocation t(9;22)(q34;qll.2), or Philadelphia (Ph) chromosome, a bone marrow biopsy, and a fluorescence in situ hybridization (FISH) analysis indicating BCR/ABL1 gene fusion.


Related Articles

  • Molecular cytogenetic characterization of Philadelphia-negative rearrangements in chronic myeloid leukemia patients. Bennour, Ayda; Bellâaj, Hatem; Ben Youssef, Yosra; Elloumi, Moez; Khelif, Abderrahim; Saad, Ali; Sennana, Halima // Journal of Cancer Research & Clinical Oncology;Sep2011, Vol. 137 Issue 9, p1329 

    Background: The BCR/ABL gene rearrangement is generated by a reciprocal translocation t(9;22)(q34;q11) in chronic myeloid leukemia (CML) patients. In most cases, it is cytogenetically visualized by the Philadelphia (Ph) chromosome. About 5-10% of CML patients lack cytogenetic evidence of the Ph...

  • A rare t (9; 12; 22) (q34; q23; q11) translocation in a patient with typical chronic myeloid leukemia: A case report. Azma, Raja Z.; Jaapar, Noor A.; Alauddin, Hafiza; Aziz, Suria A.; Ithnin, Azlin; Hussin, Noor H.; Kit, Chia W.; Tumian, Rafeah; Zakaria, Zubaidah; Akmal, Sharifah N.; Shuib, Salwati // Journal of Hematological Malignancies;Dec2012, Vol. 2 Issue 4, p17 

    Chronic myeloid leukaemia (CML) is typically associated with reciprocal translocation between long arms of chromosome 9 and 22, t (9, 22) (q34; q11.2) and with the formation of a BCR-ABL fusion gene. In a minority of newly diagnosed CML cases, complex cytogenetic variants of the Ph chromosome...

  • De novo CSF3R mutation associated with transformation of myeloproliferative neoplasm to atypical CML. Bartels, S.; Lehmann, U.; Büsche, G.; Schlue, J.; Hussein, K.; Debatin, D.; Karcher, A.; Andrulis, M.; Schirmacher, P.; Kreipe, H. // Annals of Hematology;Jul2015, Vol. 94 Issue 7, p1255 

    The article presents a case-study of a 65-year-old male, who was presented with thrombocytosis, splenomegaly, anemia and signs of hemolysis. Topics discussed include proliferation of all cell lineages displayed by bone marrow histology, myeloproliferative neoplasm showed by splenectomy and...

  • Heralding Extramedullary Blast Crisis: Horner’s Syndrome with Brachial Plexopathy in a Patient with Chronic Myelogenous Leukemia. Jacob, Sajish; Patil, Sadanand I. // Case Reports in Medicine;12/21/2016, p1 

    Chronic myelogenous leukemia (CML) blast crisis is an ominous clinical event that is challenging to treat. This can develop at extramedullary sites rarely and is defined as the infiltration of blasts outside the bone marrow irrespective of proliferation of blasts within the bone marrow. We aim...

  • Nilotinib.  // Reactions Weekly;Feb2015, Vol. 1540 Issue 1, p219 

    The article presents a case study of a patient who had experienced a moderate transaminase elevation after switching from imatinib to nilotinib treatment for chronic myeloid leukaemia.

  • Recurrent Monosomies Confirmed by Interphase FISH in Three Chronic Myeloid Leukemia Cases. Argüden, Yelda Tarkan; Kuru, Dilhan; Çırakoğlu, Ayşe; Yılmaz, Şükriye; Aydın, Şeniz Öngören; Ar, Cem Muhlis; Deviren, Ayhan; Soysal, Teoman; Hacıhanefioğlu, Seniha // Turkish Journal of Hematology;2015, Vol. 32 Issue 1, p82 

    The article presents a case study of three patients with chronic myeloid leukemia who underwent fluorescence in situ hybridization (FISH) to evaluate significance of these recurrent monosomies. It mentions that patients were treated with imatinib. The study highlights the effectiveness of FISH...

  • Imatinib.  // Reactions Weekly;2/20/2016, Vol. 1589 Issue 1, p125 

    An abstract of the article "Outcomes of patients with chronic phase CML who discontinued ponatinib in the frontline setting" by P. Jain and others is presented.

  • Imatinib.  // Reactions Weekly;2/20/2016, Vol. 1589 Issue 1, p124 

    An abstract of the article "The efficacy and tolerability of generic of imatinib in a very specific group of chronic myeloid leukemia (CML)" by M. Conchon and others is presented.

  • Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7. Ashaat, Neveen; Husseiny, Ahmed // Iranian Journal of Reproductive Medicine;Winter2012, Vol. 10 Issue 1, p15 

    Background: Missed abortion (Silent miscarriage) is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation) is cytogenetic abnormalities. Objective: To asses if there is a correlation between...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics