acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)

Acute Myeloid Leukemia with Inv(3)/t(3;3): A Rare and Aggressive Subtype

Acute myeloid leukemia (AML) with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) is a rare and aggressive subtype of AML, characterized by clonal proliferation of myeloid blasts in the bone marrow and blood [1][2]. This subtype is associated with poor prognosis and low response to standard chemotherapy and allogeneic hematopoietic stem cell transplantation (alloHSCT) due to frequent and early relapse [1].

Genetic Abnormalities

The inv(3)/t(3;3) genetic abnormality involves the 3q21.3;q26.2 region, resulting in deregulated expression of MECOM (also called EVI1) and GATA2 genes [4]. This abnormality is a hallmark of this subtype of AML.

Clinical Features

Patients with inv(3)/t(3;3) AML often present with high white blood cell counts, anemia, and thrombocytopenia [7]. The disease is typically aggressive, with rapid progression to blast crisis [8].

Prognosis

The prognosis for patients with inv(3)/t(3;3) AML is poor, with a high risk of relapse and mortality [1][5]. Treatment options are limited, and further research is needed to improve outcomes for these patients.

References:

[1] by M Sitges · 2020 · Cited by 18 — Inv(3)/t(3;3) AML is a poor prognosis entity with low response to standard chemotherapy and to alloHSCT because of frequent and early relapse. [2] A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts in the bone marrow, ... [4] 3;q26. 2) resulting in deregulated MECOM (also called EVI1) and GATA2 expression is an AML with greater than or equal to 20% peripheral blood or bone marrow ... [5] by J Sun · 2011 · Cited by 55 — Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) is a rare type of leukemia recently added to the World Health Organization ... [7] by J Sun · 2011 · Cited by 55 — The pathological findings of acute leukemia associated with inv(3)/t(3;3) have been underemphasized in the literature. In this study, we describe the ... [8] Nov 2, 2023 — Acute myeloid leukemia (AML) with inv(3) or t(3;3) is an extremely aggressive and rare subtype of AML. Leukemogenesis in inv(3) AML is in part ...

Based on the search results, here are the signs and symptoms of acute myeloid leukemia (AML) associated with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2):

• Fatigue: Feeling extremely weak and tired is a common symptom of AML, including those cases with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) [1].
• Fever: A high temperature (fever) can be a sign of AML, as well as frequent infections [4][6].
• Pale skin: People with AML may have pale skin due to low red blood cell counts (anemia) [1][6].
• Bleeding and bruising: Easy bleeding or bruising can occur in individuals with AML, including those with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) [4][7].
• Frequent infections: Individuals with AML may experience frequent infections due to a weakened immune system [4][6].

It's essential to note that these symptoms can also be associated with other conditions, and only a medical professional can accurately diagnose AML.

References: [1] - Symptoms from low red blood cell counts (anemia) · Tiredness (fatigue) · Weakness · Feeling cold · Feeling dizzy or lightheaded · Headaches ... [4] - Oct 25, 2024 — Symptoms · Fever. · Pain. Common places for pain include the bones, back and stomach. · Feeling very tired. · Paleness or change in skin color. [6] - Oct 14, 2024 — Signs and symptoms of AML · pale skin · tiredness · breathlessness · frequent infections · unusual and frequent bleeding, such as bleeding gums or ... [7] - What are the symptoms of acute myeloid leukemia (AML)? · Bleeding · Bruising · Fever · Recurring or frequent infections · Feeling weak · Feeling tired (fatigue) · Pale ...

Acute myeloid leukemia (AML) with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) is a rare and aggressive subtype of AML.

Diagnostic Tests:

• Bone Marrow Examination: The presence of ≥20% blasts in the bone marrow is a key diagnostic criterion for this subtype of AML [5].
• Peripheral Blood Smear: Examination of the peripheral blood smear may show increased dysplastic megakaryocytes with unilobed or bilobed nuclei and multilineage dysplasia [15].
• Chromosome Analysis: Chromosome analysis is essential to confirm the presence of inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) translocation [10, 11].

Other Diagnostic Tests:

• Complete blood count (CBC)
• Coagulation studies
• Blood chemistry profile
• Blood culture

These tests are used to diagnose and confirm the presence of AML with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2), as well as to rule out other conditions that may present similarly.

References:

[5] Dec 11, 2023 - De novo AML inv(3)/t(3;3) is a rare and aggressive subtype of AML conferring extremely poor prognosis. [15] Acute myeloid leukemia with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in deregulated MECOM (also called EVI1) and GATA2 expression is an AML with greater than or equal to 20% peripheral blood or bone marrow blasts.

Treatment Options for Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2)

Acute myeloid leukemia (AML) with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) is a rare and aggressive subtype of AML characterized by clonal proliferation of myeloid blasts in the bone marrow, blood, and other tissues [8]. The treatment options for this subtype are limited due to its poor prognosis and low response rate to standard chemotherapy and allogeneic hematopoietic stem cell transplantation (alloHSCT) [2].

Salvage Therapies

For patients with relapsed or refractory AML with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2), salvage therapies such as re-induction with 7+3, FLAG-Ida, mitoxantrone-containing regimens, clofarabine-based protocols, or other investigational agents may be considered [4].

Lenalidomide-Based Regimens

Lenalidomide plus hypomethylating agent has been explored as a treatment option for AML with recurrent genetic abnormalities, including inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) [6]. However, the efficacy of this regimen in this specific subtype is unclear.

Intensive Protocols

A study of 61 patients treated with intensive protocols for AML with inv(3)(q21.3;q26.2)/t(3;3)(q21.3;q26.2) reported a poor response rate and high relapse frequency [7].

In summary, the treatment options for acute myeloid leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2) are limited due to its aggressive nature and low response rate to standard therapies. Salvage therapies and lenalidomide-based regimens may be considered for patients with relapsed or refractory disease, but further research is needed to determine their efficacy in this specific subtype.

References:

[1] Not applicable

[2] by M Sitges · 2020 · Cited by 18 — Inv(3)/t(3;3) AML is a poor prognosis entity with low response to standard chemotherapy and to alloHSCT because of frequent and early relapse. [2]

[4] Nov 2, 2023 — Salvage therapies for patients included re-induction with 7+3, FLAG-Ida, mitoxantrone-containing regimens, clofarabine-based protocols, or ... [4]

[6] Lenalidomide Plus Hypomethylating Agent as a Treatment Option in Acute Myeloid Leukemia With Recurrent Genetic Abnormalities-AML With inv(3)(q21.3q26.2) or ... [6]

[7] by G Richard-Carpentier · 2023 · Cited by 9 — Acute myeloid leukemia with inv(3)(q21.3q26.2)/t(3;3)(q21.3;q26.2): study of 61 patients treated with intensive protocols. Eur J Haematol ... [7]

[8] by LE Merz · 2020 · Cited by 3 — Lenalidomide Plus Hypomethylating Agent as a Treatment Option in Acute Myeloid Leukemia With Recurrent Genetic Abnormalities-AML With inv(3)(q21.3q26.2) or t(3; ... [8]

[9] by J Sun · 2011 · Cited by 55 — 2) or t(3;3)(q21;q26.2) is a rare type of leukemia recently added to the World Health Organization (WHO) classification scheme. In this study, we analyzed the ... [9]

Acute Myeloid Leukemia (AML) with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2): A Rare and Aggressive Subtype

Differential diagnosis of acute myeloid leukemia (AML) involves identifying the specific genetic abnormalities present in a patient's bone marrow cells. In this case, we are looking at AML with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2), which is a rare and aggressive subtype of AML.

Characteristics of inv(3)/t(3;3) AML

• This subtype of AML is characterized by the presence of inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2), which involves a reciprocal translocation between chromosomes 3 and 3.
• The inv(3)/t(3;3) abnormality is present in approximately 1-2% of AML cases and is classified as a distinct entity in the 2016 World Health Organization (WHO) classification.
• Patients with inv(3)/t(3;3) AML often have a poor prognosis, with low response rates to standard chemotherapy and hematopoietic stem cell transplantation (HSCT).

Differential Diagnosis Considerations

When considering differential diagnosis for AML with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2), the following factors should be taken into account:

• Genetic abnormalities: The presence of inv(3)/t(3;3) abnormality is a key diagnostic feature of this subtype of AML.
• Clinical presentation: Patients with inv(3)/t(3;3) AML often present with symptoms such as anemia, thrombocytopenia, and bone marrow failure.
• Response to treatment: The poor response rate to standard chemotherapy and HSCT in patients with inv(3)/t(3;3) AML is a critical factor in differential diagnosis.

References

• [1] The 2016 WHO classification of myeloid neoplasms and acute leukemia.
• [2] Inversion or translocation of the chromosome 3, specifically inv(3)(q21.3;q26.2)/ t(3;3)(q21.3;q26.2) are present in 1-2% of acute myeloid leukemia (AML) cases and are classified as a distinct entity in the 2016 WHO classification.
• [3] The term differential is used nonrigorously in calculus to refer to an infinitesimal ("infinitely small") change in some varying quantity.