Introduction
Background
Giovanni Di Guglielmo first described erythroleukemia in the early twentieth century, and the disorder is often still referred to as acute Di Guglielmo syndrome. It is classified as an M6 subtype of acute myelogenous leukemia (AML) in the French-American-British (FAB) classification system based on morphologic and cytochemical criteria.
Pathophysiology
Erythroleukemia is a neoplastic proliferation of erythroid and myeloid precursors of bone marrow hematopoietic stem cells, even though a pure erythroid proliferation may occur on rare occasions.
Frequency
United States
Acute erythroleukemia accounts for 3-5% of all de novo AMLs and 20-30% of secondary leukemias. It is very rare in children.
Race
No racial predilection is known.
Sex
Occurrence has a slight male predominance.
Age
The incidence of erythroleukemia increases in people older than 50 years. Mazzella et al (2000) described 2 peaks, one in the seventh decade of life and a second, smaller peak in the fourth decade of life. Although rare in children, M6 AML has been reported in children from the newborn period through age 7 years.
Clinical
History
Upon presentation, signs and symptoms of erythroleukemia are usually nonspecific and result from decreased hematopoiesis from the replacement of bone marrow by leukemic cells. This results in anemia, thrombocytopenia, and leukopenia. Patients rarely present with symptoms lasting longer than 6 months, and they are usually diagnosed within 1-3 months after the onset of symptoms. The most common presenting symptoms are as follows:
- Fatigue or malaise
- Minimal-to-modest weight loss
- Easy bruising
- Fever
- Bone or abdominal pain
- Dyspnea
- Meningeal signs and symptoms (very rare, only if leukemic involvement of CNS is present)
- Diffuse joint pain (nonspecific in one third of patients)
Physical
- Pallor (anemia)
- Hemorrhage (thrombocytopenia)
- Ecchymoses or petechiae
- Gum bleeding
- Epistaxis
- Retinal hemorrhage
- Fever and infection (neutropenia): Common sites include the respiratory tract, urinary tract, sinuses, perirectal area, and skin.
- Hepatosplenomegaly (<25% cases)
- Lymphadenopathy
Causes
De novo cases have no identifiable risk factors. The most common predisposing factors in secondary acute erythroleukemia are as follows:
- Myelodysplastic syndrome (MDS) is a predisposing factor.
- Ionizing radiation: Thorotrast, a radiographic contrast medium used in the 1940s, is associated with increased risk of erythroleukemia (latent period of 10-30 y after exposure).
- Prior chemotherapy, such as with alkylating agents, is a predisposing factor. These agents may be used in the treatment of Hodgkin disease, multiple myeloma, bone marrow transplant, ovarian and breast cancer, and nonneoplastic disorders (eg, collagen vascular disease).
- Rare cases of familial erythroleukemia (autosomal dominant with variable penetrance) have been described, which manifest in the sixth decade of life.
More on Erythroleukemia |
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| Multimedia: Erythroleukemia |
| References |
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References
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Further Reading
Keywords
erythroleukemia, Di Guglielmo disease, Di Guglielmo syndrome, acute myelogenous leukemia, AML, neoplastic proliferation, erythroid precursor, myeloid precursor, M6 AML
