Abstract 277P
Background
A reciprocal translocation between the long arms of chromosome 9 and 22 [t (9;22) (q 34; q 1.1)] results in the formation of a fusion hybrid gene also called Philadelphia chromosome encodes proteins with a constitutively activated tyrosine kinase activity [1,2]. These proteins being leukemogenic result in Chronic Myeloid leukemia (CML) and Acute lymphoid leukemia (ALL). Breakage in the long arms of chromosome 9 (ABL1 gene) can occur anywhere within a > 300-kb segment at the 5’end of the gene [1]. Site of breakage in chromosome 22 (BCR gene) can occur in different regions within a 5.8kb region known as the major breakpoint cluster region (M-bcr), spanning 5 exons previously known as b1 to b5 but now as exon 12 to 16 [1]. In CML, the breakpoint in the BCR gene mostly (95%) falls within the major break point cluster region with b2a2 at 40 % and b3a2 at 55% [1].
Methods
The number of reported patients was 686 over a period of 2 years and 10 months (from October 2016 to July 2019). Males comprised 58% of the total while females were 42%. The male to female ratio was 1.4:1. The tested patients were divided into 3 major groups according to their age i.e. x < 20, 20>x<50 and x > 50.The mean age was 40.2 years.
Results
Out of the tested 686 patients, 303 were reported to have the BCRABL1 transcript off which 54.2% were males and 45.9% were females. The ratio of patients diagnosed with Chronic Myeloid Leukemia to Acute Lymphoid leukemia was 9.8:1. 9% of the patients had the mutation e1a2 while 32% had b2a2 and 59% were reported with b3a2.
Conclusions
We conclude that the distribution of BCR/ABL transcript types in patients with CML and ALL differs from most, but not all other populations studied. Currently there are no data from studies of CML and ALL in analyzing a comparable number of cases. The underlying mechanism and causes for the sex-depending distribution of the BCR/ABL transcript types remains open to speculation.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Zeeshan Ansar Ahmed.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
YO31 - Primary pulmonary sarcoma
Presenter: Khilola Ubaydullaeva
Session: Poster display session
Resources:
Abstract
YO32 - prostatic rhabdomyosarcoma in an adult patient: A case study
Presenter: Muhammad Rafiqul Islam
Session: Poster display session
Resources:
Abstract
YO33 - Hyponatremia – slaying the dragon or chasing a mirage- a Case report
Presenter: Rahul D. Arora
Session: Poster display session
Resources:
Abstract
YO34 - A rare endocrinological syndrome presenting with weakness in Soft tissue sarcoma - a Case report
Presenter: Rahul D. Arora
Session: Poster display session
Resources:
Abstract
YO35 - Gefitinib induced movement disorder - a Case report
Presenter: Rahul D. Arora
Session: Poster display session
Resources:
Abstract
YO36 - A case of BRAF V600E mutated non-small-cell lung cancer with pleomorphic features
Presenter: Reiko Matsuzawa
Session: Poster display session
Resources:
Abstract
YO37 - Intraventricular metastasis as the first presentation of non-small cell lung cancer
Presenter: Siraphong Putraveephong
Session: Poster display session
Resources:
Abstract
YO38 - Cerebral metastases from a thymic malignancy: a case report
Presenter: Marfu'au Nik Eezamuddeen
Session: Poster display session
Resources:
Abstract
YO39 - Primary Follicular Thyroid Carcinoma Metastatic to the Kidney Mimicking Renal Cell Carcinoma: A Case Report
Presenter: Jestoni Aranilla
Session: Poster display session
Resources:
Abstract
YO40 - A Rare Case of Primary Malignant Giant Cell Tumor of Tibia
Presenter: Gowthami Venugopal
Session: Poster display session
Resources:
Abstract