Erythroleukemia

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List of terms related to Erythroleukemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords:Pure erythroid leukemia, FAB ( French-American-British) M6, acute erythroid leukemia, Di Guglielmo’s disease

Historical Perspective

Erythroleukemia was first discovered by M. Copelli, in 1912.

In 1917, Di Guglielmo, Italian hematologist, described leukemic nature of the erythroleukemia.

The association between [important risk factor/cause] and [disease name] was made in/during [year/event].

In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].

In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

There have been several outbreaks of [disease name], including -----.

In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].

The first known case of acute erythroid leukemia was described in 1912 by M. Copelli under the name erythromatosis. In 1917, Italian hematologist Giovanni Di Guglielmo (1886–1962), expanded on the description, coining the name "eritroleucemia" (Italian for erythroleukemia). Di Guglielmo was the first to recognize the leukemic nature of the condition, and it is sometimes referred to as Di Guglielmo's syndrome in recognition of his work.

Chris Squire, bassist from the progressive rock group Yes, died from complications related to acute erythroid leukemia on June 27, 2015

ure erythroid leukemia (FAB M6) — Pure erythroid leukemia (equivalent to FAB M6, acute erythroid leukemia, erythroleukemia, or Di Guglielmo’s disease) accounts for <5 percent of AML. The erythroblasts do not express markers of myeloid lineage and do not stain with MPO [22]. They may express CD117 and do react with antibodies to hemoglobin A and glycophorin. In prior versions of the WHO classification system, two types of this leukemia were recognized, the erythroid/myeloid type and the "pure" type [39], and a diagnosis of AML, erythroid/myeloidcould be made if erythroid precursors accounted for more than 50 percent of the cells in the bone marrow and the blasts accounted for 20 percent or more of the non-erythroid cells. In the 2016 revision of the WHO classification, a diagnosis of acute leukemia requires blasts to account for 20 percent or more of the bone marrow cellularity irrespective of the number of erythroid precursors. Entities with less than 20 percent blasts have been reclassified as other forms of AML or MDS [3].

A diagnosis of pure erythroid leukemia is made in patients without exposure to cytotoxic agents and without AML-associated recurrent genetic abnormalities in whom erythroblasts account for >80 percent of the marrow cells. The erythroblasts are primarily at the pronormoblast stage and may have vacuolization in the cytoplasm surrounding the nucleus. This has been referred to as a "pearl necklace," and should not be confused with the vacuolated cells seen in Burkitt leukemia/lymphoma.

The "erythroid/myeloid type" was previously defined as those with erythroid precursors accounting for >50 percent of the nucleated marrow elements and myeloblasts accounting for >20 percent of the nonerythroid forms (picture 14). Evaluation of myeloblasts in such cases now considers the percentage of total nucleated cells and does not limit the percentage to nonerythroid forms. These cases are classified as MDS or as a non-erythroid subtype of AML, not otherwise specified depending upon the percentage of myeloblasts, identification of cytogenetic abnormalities, and the presence of dysplasia.

Classification

Erythroleukemia accounts for <5 percent of AML( acute myeloid leukemia). Erythroleukemia may be classified according to previous version WHO into 2 subtypes : The erythroid/myeloid type and the pure type.

Diagnosis of erythroid/myeloid type, base on previous version WHO:

• Erythroid precursors more than 50 percent of the cells in bone marrow and,
• The blasts compromise 20 percent or more of the non-erythroid cells

2016 version of WHO calcification for AML (erythroid/myeloid type) :

• 20 percent or more blasts in bone marrow irrespective of the number of erythroid precursors

Diagnosis of pure erythroid leukemia:

• Erythroblasts ( at the stage of pronormoblast >80 percent of the marrow cells in patients without exposure to cytotoxic agent and without AML genetic abnormalities. Erythroblasts may have vacuolization in the cytoplasm arrounding the nucleus ( pearl necklace).

OR

Erythroleukemia may be classified into 2 groups. De novo cases of erythroleukemia and secondary Erythroleukemia. De novo cases are not associated with any risk factors. The most common predisposing factors in secondary acute erythroleukemia are as follows:based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].

OR

Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.

OR

If the staging system involves specific and characteristic findings and features: According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].

OR

The staging of [malignancy name] is based on the [staging system].

OR

There is no established system for the staging of [malignancy name].

Pathophysiology

Erythroleukemia is a neoplastic proliferation of myeloid and erythroid precursors of bone marrow hematopoietic stem cells. Erythroleukemia is accounting for 3–5% of all AML cases. A pure erythroid proliferation on rare occasion may occur. The erythroblasts do not stain with MPO ( myeloperoxidase). Markers of myeloid lineage can not be expressed on the erythroblasts.

Gross pathology:

Microscopic examanination:

Erythroblasts may have vacuolization in the cytoplasm arrounding the nucleus ( pearl necklace).

Immunohistochemistry

and should not be confused with the vacuolated cells seen in Burkitt leukemia/lymphoma.

The "erythroid/myeloid type" was previously defined as those with erythroid precursors accounting for >50 percent of the nucleated marrow elements and myeloblasts accounting for >20 percent of the nonerythroid forms (picture 14). Evaluation of myeloblasts in such cases now considers the percentage of total nucleated cells and does not limit the percentage to nonerythroid forms. These cases are classified as MDS or as a non-erythroid subtype of AML, not otherwise specified depending upon the percentage of myeloblasts, identification of cytogenetic abnormalities, and the presence of dysplasia.

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR

[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Causes

Erythroleukemia may be caused by translocation t(1;16) generating the fusion gene NFIA/CBFA2T3.

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of secondary is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating ((Page name)) from Other Diseases

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Epidemiology and Demographics

The incidence of erythroleukemia is approximately 0.077 per 100,000 individuals worldwide.

Erythroleukemia commonly affects individuals older than 50 years of age with a median age of 65.

There is no racial predilection to Erythroleukemia.

Men are slightlly more affected by Erythroleukemia than women.

Risk Factors

There are no established risk factors for de novo cases of erythroleukemia.

The most potent risk factor in the development of secondary Erythroleukemia is previous MDS ( myelodysplastic syndrome).

Other risk factors include:

• Ionizing radiation such as Thorium dioxide suspension (Thorotrast)
• Previous use of chemotherapy drugs such as alkylating agents
• Famillial erythroleukemia, autosomal dominant disorder

myelodysplastic syndrome( Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].

Natural History, Complications, and Prognosis

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally poor. 3-9 months after initial diagnosis is medican survival range. A high proerythroblast/myeloblast ratio correlates with worse outcome.

Diagnosis

Diagnostic Study of Choice

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

There are no established criteria for the diagnosis of [disease name].

History and Symptoms

• Fatigue
• Malaise

• Fatigue
• Malaise
• Bone pain
• Abdominal pain
• Weight loss
• Easy bruising
• Fever
• Dyspnea

Less common symptoms of Erythroleukemia include diffuse joint pain

Physical Examination

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Laboratory Findings

• Pancytopenia
• Few peripheral blood blasts
• Dysplasia in bone marrow and peripheral blood
• Dysplastic PAS positive erythroblasts with overexpression of the multidrug resistance (MDR) gene product P-glycoprotein
• High freqiency of mutations, especially of TP53

Typical laboratory features include pancytopenia, few peripheral blood blasts, the presence of dysplasia in BM and peripheral blood, especially with dysplastic PAS-positive erythroblasts overexpression of the multidrug resistance (MDR) gene product P-glycoprotein, frequent occurrence of high-risk karyotypes, and a high frequency of mutations, especially of TP53

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Electrocardiogram

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name].

OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

CT scan

There are no CT scan findings associated with [disease name].

OR

[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with [disease name].

OR

[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Other Imaging Findings

There are no other imaging findings associated with [disease name].

OR

[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

Hypomethylating agents (HMAs; azacitidine and decitabine) have become the first-line therapy of choice for patients with MDS [23,24], CMML [25,26,27], and AML [28,29,30,31,32,33,34,35,36] who are not candidates for, or decline, intensive chemotherapy (ICT) and/or allo-SCT. HMAs have demonstrated improved outcomes for patients with AML when compared to conventional care regimens, including ICT, low-dose cytarabine, or best supportive care (BSC) [28,29,30,37,38]. Despite some limitations, several studies indicate that the OS of older AML patients treated with HMAs may not be inferior to those treated with ICT [28,29,39,40,41,42,43,44].

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

[Disease name] is a medical emergency and requires prompt treatment.

OR

The mainstay of treatment for Erythroleukemia is hyypomethylating agents ( HMA) such as

• Azacitidine
• Decitabine.

OR   The optimal therapy for [malignancy name] depends on the stage at diagnosis.

OR

[Therapy] is recommended among all patients who develop [disease name].

OR

Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].

OR

Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].

OR

Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].

OR

Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].

Surgery

• Allo-SCT ( Allogenic hematopoietic stem cell transplantation)

Surgical intervention is not recommended for the management of [disease name].

OR

Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]

OR

The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].

OR

The feasibility of surgery depends on the stage of [malignancy] at diagnosis.

OR

Surgery is the mainstay of treatment for [disease or malignancy].

Primary Prevention

There are no established measures for the primary prevention of [disease name].

OR

There are no available vaccines against [disease name].

OR

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

OR

[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].

Secondary Prevention

There are no established measures for the secondary prevention of [disease name].

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

References

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