Pure Erythroleukemia (Variant Acute Myeloid Leukemia-vAML-M6) with Deletion of Chromosome 20, Mainly Presenting as Late Erythroblasts, a Unique Case Report with Review of Literature

Abstract

Acute erythroleukemia is characterized by a predominant immature erythroid population and accounts for approximately 2-5 % of all cases of acute leukemia. Two subtypes are recognized based on the presence or absence of a significant myeloid component: erythroleukemia and pure erythroid leukemia. Erythroleukemia is predominantly a disease of adults, while pure erythroid leukemia can be seen in any age including children. Here is a case of pure erythroleukemia presenting mainly as late erythroblasts which was diagnosed on bone marrow examination, cytochemistry and was confirmed on immunophenotyping. Possibly this is the only case so for demonstrating deletion of long arm of chromosome 20 in pure erythroleukemia.

Acute myeloid leukemia mmicking an Ewing’s sarcoma family tumor: A clinical case

“…Several cases presented in the literature described enlarged lymph nodes, hemangioma, bilateral ovarian involvement in a 3.5-year-old child, and proptosis [1,5]. AEL can disguise itself as small round-cell tumor masses such as acute sarcoma of Ewing's family or neuroblastoma [6].…”

“…However, glycophorin A was completely negative in some AML variant M6 cases and probably indicated late erythroid, while CD71 was a nonspecific activation marker. Platelet CD41 antigen and myeloid markers like CD13 and CD33 can sometimes be positive [6].…”

“…Despite very intensive therapy, AEL treatment is challenging and does not always result in remission [5]. An extremely unfavorable prognosis for patients with AML-M6 due to a lack of standard protocol for this rare disease requires further research [6].…”

A case of erythroleukaemia in an eight year old boy

“…Further, depending on the numbers of various blast cells M6 leukaemia has been classified into M6A, M6B and M6C. But, classification of EL depending on the numbers of types of blast cells is difficult as blasts are very dysplastic 7 . Common clinical presentations reported in children consist of male preponderance and marked pallor 3,4 .…”

“…Leucocytosis has been reported in a child 6 as well as in adults 7 . It is important to differentiate erythroleukaemia from myelodysplastic syndrome, reactive erythroid hyperplasia sometimes following viral infections, other leukaemias and also from nutritional deficiency of vitamin B12 and folic acid 6 .…”