Positive for CD19, CD10(dim), CD13, CD33, CD34, CD123, cCD79a, sCD22, and HLA-DR. 

Negative for CD20, cMPO, CD117, cCD3, CD5, CD7, CD14, CD15, CD64, CD11b, CD11c, CD4, CD24, CD38, TdT and CD56 

Pre-B Cell Acute Lymphoblastic Leukemia

GTG

Modal Karyotype (ISCN 2016): 46,XY,t(12;17)(p13;q21)[3]/47,idem,+der(1)t(1;1)(p21;q21)[12]/46,XY[5]

 Interpretation: Cytogenetic analysis of twenty metaphases from unstimulated cultures using bone marrow aspirate sample reveals a neoplastic clone characterized by the presence of a balanced translocation between the short arm of chromosome 12 housing ZNF384 gene located on 12p13 and the long arm of chromosome 17 leading to its rearrangement in fifteen metaphases resulting in TAF15::ZNF384 chimeric gene. The clone also reveals an additional derivative chromosome 1 formed due to an unbalanced translocation between the short and the long arms of chromosome 1 in twelve metaphases analyzed.

http://atlasgeneticsoncology.org/Anomalies/t1217p13q11ID1369.html

Interphase FISH analysis was done using ZNF384 breakapart probe.

Chromosomal region 12p13.31

Result - FISH analysis of 200 interphase cells using ZNF384 breakapart probe reveals rearrangement of ZNF384 gene in 80% of the cells.

Positive for ZNF384 gene rearrangement.

The ZNF384 (zinc-finger protein 384) gene encodes a transcription factor involved in the regulation of matrix metalloproteinases. ZNF384 rearranged BCP ALL is a rare and newly identified entity associated with weak expression of CD10 along with aberrant myeloid expression of CD13 & CD33 markers. Among the seven fusion genes identified with ZNF384, TAF15 located on 17q12 is one of the commonest partner. A 29 year male patient was referred to our center with complaints of intermittent fever and mild cough since 2 months. Outside investigations were suggestive of Acute Leukemia. Therefore, bone marrow examinaton was done. Morphological and immunophenotypic findings were consistent with Pre-B Cell Acute Lymphoblastic Leukemia with aberrant CD13 and CD33 markers. Cytogenetic study revealed a balanced translocation between the short arm of chromosome 12 and the long arm of chromosome 17. Metaphase FISH using breakapart probe for ZNF384 confirmed rearrangement of ZNF384 gene with partner gene located on the long arm of chromosome 17. The patient did not opt for treatment due to financial constraints and was lost to follow up.