myeloid and lymphoid neoplasms associated with PDGFRB rearrangement

Myeloid and lymphoid neoplasms associated with PDGFRB rearrangement are a rare type of cancer that affects the blood and bone marrow. These neoplasms are characterized by the presence of abnormal cells in the bone marrow, which can lead to an overproduction of white blood cells, particularly eosinophils.

Key Features:

• Rearrangement of PDGFRB gene: The PDGFRB gene is involved in the formation of a fusion protein that promotes cell growth and proliferation.
• Eosinophilia: A significant number of eosinophils are present in the blood, which can lead to symptoms such as fatigue, weight loss, and shortness of breath.
• Splenomegaly: The spleen is often enlarged due to the accumulation of abnormal cells.
• Hepatomegaly: In some cases, the liver may also be affected, leading to its enlargement.
• Skin infiltration and cardiac damage: Some patients may experience skin lesions and cardiac problems, including heart failure.

Presentation:

Myeloid and lymphoid neoplasms associated with PDGFRB rearrangement can present in various ways, including:

• Chronic eosinophilic leukemia (CEL): A type of leukemia characterized by an overproduction of eosinophils.
• Myeloproliferative neoplasm: A condition where the bone marrow produces too many white blood cells.

Treatment:

The treatment for myeloid and lymphoid neoplasms associated with PDGFRB rearrangement typically involves targeted therapy, such as tyrosine kinase inhibitors (TKIs), which can help control the growth of abnormal cells. In some cases, chemotherapy or stem cell transplantation may also be necessary.

References:

• World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues.
• Various studies on PDGFRB gene rearrangements and their association with myeloid and lymphoid neoplasms.

Myeloid and lymphoid neoplasms associated with PDGFRB rearrangement can present with a range of signs and symptoms, which may vary in severity and frequency among patients. Here are some common signs and symptoms:

• Leukocytosis: An increase in the number of white blood cells (leukocytes) in the blood is a hallmark of this condition [5].
• Anemia: Many patients with PDGFRB rearrangement experience anemia, which can be mild or severe [1].
• Thrombocytopenia: A decrease in platelet count (thrombocytopenia) is also common in these patients [6].
• Eosinophilia: An increase in eosinophils, a type of white blood cell, is often seen in patients with PDGFRB rearrangement [2, 5].
• Neutrophilia: Some patients may experience an increase in neutrophil count (neutrophilia) [5].
• Asymptomatic: In some cases, the condition may be discovered incidentally on a complete blood count (CBC), with no noticeable symptoms [8].

It's worth noting that not all patients will exhibit these signs and symptoms, and the severity of the condition can vary widely among individuals.

Based on the search results, it appears that diagnostic tests for myeloid and lymphoid neoplasms associated with PDGFRB rearrangement include:

• Bone marrow biopsy [12]
• Cytochemistry [14]
• FISH (Fluorescence In Situ Hybridization) [14]
• Genetic testing [14]
• Immunophenotyping [14]

Additionally, the workup for these neoplasms should also include examination of the blood smear and laboratory tests [15].

It's worth noting that serum tryptase may be mildly or moderately elevated in some cases [14]. However, definitive diagnostic methods are still being researched and developed.

References: [12] - Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene ... [14] - Serum tryptase may be mildly or moderately elevated. Definitive Diagnostic Methods. Bone marrow biopsy. Cytochemistry. FISH. Genetic testing. Immunophenotyping ... [15] - by N Zimmermann · 2020 · Cited by 9 — The workup should include examination of the blood smear, laboratory tests and a comprehensive bone marrow evaluation, including assessment for rearrangements ...

Treatment Options for Myeloid and Lymphoid Neoplasms Associated with PDGFRB Rearrangement

Myeloid and lymphoid neoplasms (MLNs) associated with PDGFRB rearrangement are a distinct type of cancer characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene [3]. The treatment of MLNs associated with PDGFRB rearrangement typically involves targeted therapy with tyrosine kinase inhibitors (TKIs) such as imatinib.

Imatinib Mesylate

Imatinib mesylate is a first-line therapy for patients with abnormalities of PDGFRA/B, including those with PDGFRB rearrangements [6]. It has been shown to be highly effective in treating MLNs associated with PDGFRB rearrangement, with some studies reporting long-term follow-up and normalization of peripheral blood leukocytosis [7].

Targeted Treatment

Targeted treatment with TKIs such as imatinib is highly effective in patients with PDGFRA and PDGFRB fusion genes, e.g., FIP1L1::PDGFRα [5]. This approach has been shown to be particularly effective in treating MLNs associated with PDGFRB rearrangement.

Other Treatment Options

While there is no standard therapy for lymphoproliferative variant of eosinophilia, corticosteroid therapy along with low-dose oral prednisone may be used [1]. Additionally, sorafenib has been shown to be a potent inhibitor of the ETV6-PDGFRB fusion product [2].

References

• [3] A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene.
• [5] Targeted treatment with TK inhibitors (TKI) such as imatinib is highly effective in patients with PDGFRA and PDGFRB fusion genes, e.g., FIP1L1::PDGFRα.
• [6] Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA/B, whereas patients with FGFR1 fusions are treated differently.
• [7] The patient was treated with imatinib and showed normalization of peripheral blood leukocytosis, which lasted for at least six months.

Differential Diagnosis of Myeloid and Lymphoid Neoplasms Associated with PDGFRB Rearrangement

Myeloid and lymphoid neoplasms (MLNs) associated with PDGFRB rearrangement are a rare category of hematologic malignancies. The differential diagnosis for these neoplasms involves distinguishing them from other types of MLNs, as well as other conditions that may present with similar clinical features.

Key Features to Consider:

• Presence of PDGFRB Rearrangement: This is the defining cytogenetic abnormality in MLNs associated with PDGFRB rearrangement. The presence of this rearrangement can be confirmed through molecular diagnostics.
• Clinical Presentation: Patients with MLNs associated with PDGFRB rearrangement often present with a myeloproliferative neoplasm, typically characterized by eosinophilia, neutrophilia, or monocytosis.
• Bone Marrow Involvement: The bone marrow is usually involved in these neoplasms, and may show evidence of fibrosis or other histological abnormalities.

Differential Diagnosis:

1. Other Myeloid and Lymphoid Neoplasms (MLNs): MLNs associated with PDGFRB rearrangement must be distinguished from other types of MLNs, such as those associated with PDGFRA rearrangement, FGFR1 rearrangement, or PCM1-JAK2 fusion.
2. Acute Myeloid Leukemia (AML): AML can present with similar clinical features to MLNs associated with PDGFRB rearrangement, and must be ruled out through careful histological and molecular analysis.
3. Chronic Myelomonocytic Leukemia (CMML): CMML is a type of myeloproliferative neoplasm that may also present with eosinophilia or monocytosis, and must be distinguished from MLNs associated with PDGFRB rearrangement through careful histological and molecular analysis.
4. Other Conditions: Other conditions, such as reactive lymphadenopathy or fibrosis, may also present with similar clinical features to MLNs associated with PDGFRB rearrangement, and must be ruled out through careful diagnostic evaluation.

Diagnostic Approach:

The differential diagnosis of MLNs associated with PDGFRB rearrangement requires a comprehensive diagnostic approach that includes:

1. Molecular Diagnostics: Confirmation of the presence of PDGFRB rearrangement through molecular diagnostics is essential for establishing the diagnosis.
2. Histological Analysis: Careful histological analysis of bone marrow and peripheral blood samples can help to rule out other conditions, such as AML or CMML.
3. Clinical Evaluation: A thorough clinical evaluation, including a detailed medical history and physical examination, can help to identify patients who are most likely to have MLNs associated with PDGFRB rearrangement.

In conclusion, the differential diagnosis of myeloid and lymphoid neoplasms associated with PDGFRB rearrangement requires careful consideration of key features, such as the presence of PDGFRB rearrangement, clinical presentation, and bone marrow involvement. A comprehensive diagnostic approach that includes molecular diagnostics, histological analysis, and clinical evaluation is essential for establishing an accurate diagnosis.