Presentation
Di Guglielmo's ideas became better known internationally after his presentation on this subject at the Sixth Congress of the International Society of Haematology in Boston in 1956. [onlinelibrary.wiley.com]
The karyotype was diploid in 29% of patients, and trisomy 8 was present in 8.3%. No patient with AML-M6 presented with good-risk cytogenetics. Also, 56 patients (52%) presented with a complex karyotype. [ncbi.nlm.nih.gov]
A 44-year-old man presented for repetitive epistaxis and marked physical asthenia. The clinical exam revealed only profuse sweating, moderately pale teguments and hepatosplenomegaly. [medichub.ro]
In terms of its clinical presentation, most patients have cytopenia(s) (often pancytopenia) rather than leukocytosis and splenomegaly. [academic.oup.com]
Neutrophils present in the field exhibit weak reactivity and the control (not shown) was strongly positive. [archivesofpathology.org]
Entire Body System
- Weight Loss
Signs and symptoms [ edit ] The most common symptoms of AEL are related to pancytopenia (a shortage of all types of blood cells), including fatigue, infections, and mucocutaneous bleeding. [2] Almost half of people with AEL exhibit weight loss, fever [en.wikipedia.org]
Symptoms of AML include: Fever Shortness of breath Easy bruising or bleeding Bleeding under the skin Weakness or feeling tired Weight loss or loss of appetite Tests that examine the blood and bone marrow diagnose AML. [fpnotebook.com]
- Fatigue
Signs and symptoms [ edit ] The most common symptoms of AEL are related to pancytopenia (a shortage of all types of blood cells), including fatigue, infections, and mucocutaneous bleeding. [2] Almost half of people with AEL exhibit weight loss, fever [en.wikipedia.org]
- Splenectomy
He published the first Italian case of Gaucher's disease to be diagnosed by biopsy, rather than after splenectomy or at autopsy, and reported the presence of circulating Gaucher cells ( Di Guglielmo, 1931 ). [onlinelibrary.wiley.com]
Hematological
- Easy Bruising
Symptoms of AML include: Fever Shortness of breath Easy bruising or bleeding Bleeding under the skin Weakness or feeling tired Weight loss or loss of appetite Tests that examine the blood and bone marrow diagnose AML. [fpnotebook.com]
Liver, Gall & Pancreas
- Jaundice
The second case was a deeply jaundiced neonate, and it seems likely that he suffered from haemolytic disease of the newborn with erythroblastosis fetalis. In both these patients, Di Guglielmo was able to examine only the peripheral blood. [onlinelibrary.wiley.com]
An excellent example was case 352 Image 1D, a 20-year-old man who had jaundice and severe macrocytic anemia. BM examination showed 9% blasts and 72% erythroid cells that would fulfill AEL criteria. [academic.oup.com]
- Hepatomegaly
The third case was a 50‐year‐old man, called Giovanni Albini, who presented with hepatomegaly, splenomegaly, fever, pancytopenia and circulating primitive erythroblasts; bone marrow examination showed primitive erythroblasts with very few cells of granulocyte [onlinelibrary.wiley.com]
Up to one-third of the patients can have hemorrhage, hepatomegaly, or splenomegaly.14 Severe hemolysis can sometimes occur.16 Patients can be symptomatic for an interval of time before diagnosis, but usually the diagnosis is established in 1 to 3 months [archivesofpathology.org]
Neurologic
- Confusion
However, these diseases were rare, and there was confusion regarding criteria for diagnosis. [academic.oup.com]
The basophilic cytoplasm of erythroblasts and neoplastic plasma cells also can be confused morphologically.37 Immunophenotypic analysis is useful for this differential diagnosis, as plasma cells express CD38, CD138, and cytoplasmic immunoglobulin, unlike [archivesofpathology.org]
- Neglect
Acute erythraemic myelosis, as described by Di Guglielmo in 1926, is a neglected disease, which does not fit FAB criteria for either a myelodysplastic syndrome or acute myeloid leukaemia. Although rare, its existence should be acknowledged. [onlinelibrary.wiley.com]
Workup
Immunohistochemistry has a role in the workup of cases of AEL, particularly in cases in which the aspirate material is scant. Here we mention markers or applications not already addressed in the flow cytometry section above. [archivesofpathology.org]
Serum
- Erythroblast
Notably, some other immature erythroblast morphologies were observed in the workshop cases. In case 290, the immature erythroblasts were pleomorphic and anaplastic ( Image 3 ). [academic.oup.com]
The peripheral blood smear revealed leukoerythroblastosis, with 13% blasts and 35 erythroblasts per 100 nucleated elements. [medichub.ro]
In both the erythroleukemia and pure erythroid leukemia subtypes, erythroblasts are often highlighted by the periodic acid–Schiff (PAS) reaction in either a globular or diffuse pattern, with the diffuse pattern occurring in more mature erythroblasts [archivesofpathology.org]
The peripheral blood shows erythroid cells of all stages of maturation, but the author noted that acidophilic erythroblasts soon disappeared from the peripheral blood film. The lack of mature erythroblasts in the bone marrow is apparent. [onlinelibrary.wiley.com]
The erythroid component consists predominantly or exclusively of proerythroblasts and early basophilic erythroblasts. These cells may constitute 90% or more of the marrow elements. [en.wikipedia.org]
- Cytopenia
The differential diagnosis of AEL includes myeloid neoplasms that otherwise would be designated as RAEB type 1 (RAEB1) or even as refractory cytopenia with multilineage dysplasia (RCMD) or refractory cytopenia with unilineage dysplasia (RCUD). [academic.oup.com]
Fifty (46%) had MDS and/or cytopenias, with a median duration of 3.5 months (1-72) prior to the diagnosis of AML-M6. [ncbi.nlm.nih.gov]
Although a striking erythroblastemia can sometimes be identified in affected patients, examination of peripheral blood smears can be misleading because blood smears are often devoid of blasts and show only cytopenias (Figure 1). [archivesofpathology.org]
Treatment
Treatment Patients received different treatment regimens according to the period of diagnosis and prevailing studies. The treatment regimens were divided into: Group 1 – Regimens with Ara-C and Anthracyclines. [ncbi.nlm.nih.gov]
ISBN 9780470030554. ^ Erythroleukemia ~treatment at eMedicine ^ a b Santos FP, Faderl S, Garcia-Manero G, et al. (December 2009). "Adult acute erythroleukemia: an analysis of 91 patients treated at a single institution". [en.wikipedia.org]
Possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation. [fpnotebook.com]
Common issues during treatment of patients with AEL include primary induction failure, relapse, and toxicity of chemotherapeutic agents. [archivesofpathology.org]
Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008 ; 111 : 2991 – 2998. 32. AML patients with Down syndrome have a high cure rate with AML-BFM therapy with reduced dose intensity. [academic.oup.com]
Prognosis
Prognosis appears to be no different to AML in general, taking into account other risk factors. [9] [10] Acute erythroid leukemia (M6) has a relatively poor prognosis. [en.wikipedia.org]
Some subtypes (M0, M7) have a worse prognosis 37 - 39, while others (M5) do not 40. [ncbi.nlm.nih.gov]
This subtype is an exceptionally rare category of acute leukemia (3-8%), usually accompanied by unfavorable prognosis and evolution(1). [medichub.ro]
In contrast, the prognosis of patients with RAEB appeared to not be affected by the presence or absence of ≥50% erythroid precursors. [journals.plos.org]
Epidemiology
[…] karyotypes and a history of myelodysplastic syndrome. [9] Prognosis is worse in elderly patients, those with a history of myelodysplastic syndrome, and in patients who had previously received chemotherapy for the treatment of a different neoplasm. [1] [11] Epidemiology [en.wikipedia.org]
Down’s syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet Cytogenet. 1987 ; 28 : 55 – 76. 28. Risks of leukaemia and solid tumours in individuals with Down’s syndrome. [academic.oup.com]