Therapy-Related Pure Erythroid Leukemia with Hepatic Infiltration and Hemophagocytic Syndrome

Abstract

Pure erythroid leukemia (PEL) is an extremely rare disorder characterized by neoplastic proliferation of immature erythroblasts. A 66-year-old man, who had received chemoradiotherapy for hypopharyngeal cancer, was admitted because of pancytopenia. Bone marrow was infiltrated with 81% proerythroblasts positive for CD71 and CD235a. An increased number of macrophages with active hemophagocytosis was also present. Chromosome analysis showed hypodiploid complex abnormalities. The patient died of progressive disease despite induction chemotherapy. Erythroblastic infiltration into the liver and hemophagocytosis in the spleen were found at autopsy. Therapy-related PEL with hemophagocytic syndrome and hepatic infiltration of PEL has never been reported.

Pure Erythroid Leukemia Mimicking Ewing Sarcoma/Primitive Neuroectodermal Tumor in an Infant

“…PEL (FAB category M6b) is a rare erythroid lineage neoplasm (<3% of AEL), which spans a wide age range . It is defined as a neoplastic proliferation of immature erythroid precursors with undifferentiated or proerythroblastic appearance exceeding 80% of bone marrow cells with no evidence of a significant myeloblastic component …”

“…[2] PEL (FAB category M6b) is a rare erythroid lineage neoplasm (<3% of AEL), which spans a wide age range. [2,4] It is defined as a neoplastic proliferation of immature erythroid precursors with undifferentiated or proerythroblastic appearance exceeding 80% of bone marrow cells [2,3,5] with no evidence of a significant myeloblastic component. [6] Morphologically PEL is characterized by medium to large size erythroblasts with round nuclei, fine chromatin, and usually prominent nucleoli.…”

“…Because the therapy of PEL and EWS are different, establishing the correct diagnosis is paramount. Although multiple bone involvement and “skip metastases” are seen in EWS, multifocality is more compatible with lymphoma or leukemia. A high degree of suspicion is necessary to reach the diagnosis of PEL.…”

The Diagnostic Challenge of Therapy-Related Pure Erythroid Leukemia Arising in the Setting of Multiple Myeloma

“…The majority of the reported cases were classified as AML with myelodysplasia-related changes either because they evolved from a previous Myelodysplastic Syndrome (MDS), or because they had cytogenetic abnormalities frequently associated with MDS. It is uncommon for PEL to occur as a therapy-related Myeloid Neoplasm (t-MN); PEL as a t-MN has been described in patients previously treated for precursor B-lymphoblastic leukemia [5], chronic lymphocytic leukemia [6], solid tumors [7], and myeloma [8]. The rarity of PEL coupled with the lack of erythroid-lineage-specific markers, frequent occurrence of early myeloid antigens on erythroid precursors, and an undifferentiated morphology makes distinction from minimally differentiated AML (M0) challenging.…”

Pure erythroid leukemia in advanced breast cancer

“…PEL is defined by the presence of immature erythroblasts, which should comprise at least 80% of the BM cells, with no evidence of a significant myeloblastic component [2, 3, 4]. PEL accounts for about 10-20% of all acute erythroid leukemias (AEL) and less than 1% of all AML cases [2], and it has been very rarely reported as a therapy-related AML [5, 6, 7, 8]. Moreover, its occurrence has never been reported after exposure to chemotherapy and radiation for breast cancer.…”