Herein, the first case of childhood erythrophagocytosis following chemotherapy for erythroleukemia in a child with monosomy 7 is reported. A 5-year-old boy presented with anemia, thrombocytopenia, and hepatosplenomegaly in whom erythroleukemia was diagnosed. Prolonged pancytopenia accompanied by persistent fever and huge splenomegaly and hepatomegaly became evident after 2 courses of chemotherapy. On bone marrow aspiration, macrophages phagocytosing erythroid precursors were observed and the diagnosis of HLH was established; additionally, monosomy 7 was detected on bone marrow cytogenetic examination. In conclusion, monosomy 7 can lead to erythrophagocytosis associated with erythroid leukemia and should be considered among the chromosomal abnormalities contributing to the association.
Hemophagocytic lymphohistiocytosis (HLH), a critical and severe disorder, is characterized by severe hyperinflammation resulting from proliferation of reactive lymphohistiocytes on the basis of various inherited or acquired immune deficiencies [
Cases with AML associated with HLH.
Author | Patient | Country | Diagnosis | Initial presentation | Cytogenetics |
---|---|---|---|---|---|
Wong et al. (1991) [ |
Male, 64 years | Hong kong | AML (M6) | Not documented | Not documented |
Kumar et al. (2000) [ |
Female, 8 months | USA | AML (M0) | HLH | Translocation (4; 7), deletion (12), Trisomy (19), deletion (5) |
Tadmor et al. (2006) [ |
Male, 2 years | Israel | AML (M4) | HLH | Monosomy 17, deletion (5) |
Lackner et al. (2008) [ |
Female, 16 years | Austria | AML (M2) | AML | Not documented |
Lackner et al. (2008) [ |
Female, 9 years | Austria | AML (M2) | AML | Not documented |
Kitagawa et al. (2009) [ |
Male, 53 years | Japan | AML (M6b) | Simultaneous manifestation | Trisomy 1, 11, 13, 14, monosomy 3, 4, 9, 10, 12, 15, 16, 17, 18, 19, 22 |
Tsuji et al. (2010) [ |
Male, 60 years | Japan | AML (M6) | Simultaneous manifestation | Trisomy 1, 3, 4, 6, 8, 21, |
Wang et al. (2010) [ |
Female, 59 years | Japan | AML (M4) | HLH | Trisomy 3, 8; add (2) |
Yamazaki et al. (2011) [ |
Male, 74 years | Japan | AML (M6) | AML | Monosomy 5, Trisomy 8; add (3), (21), del (4), (7) |
Alavi (this case) (2013) | Male, 5 years | Iran | AML (M6a) | AML | Monosomy 7 |
A 5-year-old boy was admitted to pediatric oncology department with anemia, thrombocytopenia, and hepatosplenomegaly. Bone marrow aspiration displayed erythroid hyperplasia with erythroid precursors forming more than 50% of the cell population. Megakaryocytes were decreased in number. On repeat bone marrow aspiration performed two weeks later, more than 50% of nucleated cells were erythroblasts accompanied by myeloblast population more than 20%, compatible with AML6a. Chemotherapy with DAT protocol (daunorubicin, cytarabine, and thioguanine) was initiated. Following 2 courses of DAT therapy, prolonged pancytopenia lasting for more than 2 months with no evidence of hematologic recovery was manifested. Persistent fever and huge splenomegaly and hepatomegaly (3 cm below costal margin) were new findings on physical examination. Bone marrow aspiration was performed which proved to be severely hypocellular. A noticeable finding at this point was macrophages phagocytosing other blood cells mainly erythroid precursors; however, no evidence of increased myeloblasts was detected (Figure
Bone marrow smears demonstrating phagocytosis of erythroblasts by macrophages in the bone marrow.
Herein, the authors report the first case of childhood erythrophagocytosis following chemotherapy for erythroleukemia in a 5-year-old boy who was also discovered to bear monosomy 7 on cytogenetic studies.
Specific Karyotypic abnormalities have been described in several hematologic malignancies. Clonal cytogenetic abnormalities, including monosomy 7, are detected in two-thirds of patients with AML [
Hemophagocytic lymphohistiocytosis (HLH) is an extended entity enclosing a variety of macrophage-related disorders characterized by fever, pancytopenia, hepatosplenomegaly, and finally hemophagocytosis in bone marrow, liver, or lymph nodes [
The management of MAHS remains controversial. High doses of corticosteroids are recommended; however, the exact mechanism of their beneficial effect is yet to be identified [
In conclusion, HLH complicating AML remains a rare and life threatening entity and requires special attention. Our case brings up the argument that monosomy 7 in setting of erythroid leukemia could be complicated by erythrophagocytosis and should be considered among the chromosomal abnormalities contributing to the association.
Acute myeloid leukemia
Hemophagocytic lymphohistiocytosis.
The author(s) declare that they have no conflict of interests.