Medical and Genetic Diagnostics Lab.

Is a Hematology & Genetic center of Excellence, specialized in Oncology, Hereditary

& Personalized Medicine.
Contact us:
Maadi branch: Building 3, 273 st. branched from Palestine st. (0225175712-
01032990765)
Abbaseya branch: 391, Ramses st. (01099401081, 024672125)

Patient name Age Col. Date Final result Code Referred by

Mrs.Mervat Hamdy Fayez 50Yrs 18.05.2024 27.05.2024 MM24-000273 Harmel Oncology Center

MOLECULAR DIAGNOSIS

Peripheral Blood: Undetectable Major breakpoint cluster region (M-bcr)

Method:
Real Time qPCR detects and quantify e13-a2 or e14-a2 BCR-ABL1 mRNAs producing 210-kD protein (p210, Major
breakpoint Cluster region).
PATIENT RESULT
Collected Result MMR Achieved Source
18/05/2024 Undetectable Initial Study Peripheral Blood

Molecular Reponse Definitions according to European Leukemia Net (ELN):

Major Molecular Response (MMR/ MR3): BCR-ABL1 expression of ≤0.1% IS (International Scale)
Deep molecular response (MR4): BCR-ABL1 expression of ≤0.01% IS (4-log reduction)
Deep molecular response (MR4.5): BCR-ABL1 expression of ≤0.0032% IS (4.5-log reduction)
Deep molecular response (MR5): BCR-ABL1 expression of ≤0.001% IS (5-log reduction)

Comment: The t(9;22)/BCR-ABL1 abnormality is associated with chronic myelogenous leukemia (CML) and "Philadelphia-
positive" acute lymphoblastic leukemia of B-cell lineage (Ph+ ALL). Very rarely, this abnormality has also been identified in
cases of acute myeloid leukemia and T-lymphoblastic leukemia/lymphoma. The fusion gene on the derivative chromosome
22q11 produces a chimeric BCR-ABL1 mRNA transcript and corresponding translated oncoprotein. In CML, breakpoints in
BCR result in either exons 13 or 14 (e13, e14) joined to exon 2 of ABL1 (a2). The corresponding e13-a2 or e14-a2 BCR-ABL1
mRNAs produce a 210-kD protein (p210). Rare cases of CML are characterized by an e19-a2 type mRNA with a corresponding
p230 protein. In Ph+ ALL, the majority of cases harbor an e1-a2 BCR-ABL1 mRNA transcript, producing a p190 protein.
However, chimeric mRNA type is not invariably associated with disease type, as noted by the presence of p210- positive Ph
ALL and very rare cases of p190-positive CML. Therefore, positive results from a screening (diagnostic) assay for BCR-ABL1
mRNA need to be correlated with clinical and pathologic.

End of Report

Prof. Dr. Amal Abd El Hamid Abo-Sekkin

Professor of Hematopathology at ASU hospitals

Dr. Ahmed Samir El Heddiny

A. Lecturer of Hematopathology at ASU hospital