Blastoid mantle cell lymphoma (MCL) is a rare and aggressive subtype of non-Hodgkin lymphoma, representing about 10% to 20% of all MCL cases. It is distinguished by the appearance of its cancerous cells, which resemble immature white blood cells known as “blasts” when viewed under a microscope.
What is Blastoid Mantle Cell Lymphoma?
Blastoid MCL is an aggressive variant of mantle cell lymphoma, characterized by cells that appear immature or “blast-like” under microscopic examination. This morphology can sometimes resemble diffuse large B-cell lymphoma (DLBCL) or lymphoblastic lymphoma, making accurate identification challenging. The cells typically display a high mitotic index.
A defining genetic change in most MCL cases, including the blastoid variant, is the t(11;14)(q13;q32) chromosomal translocation. This translocation involves the IGH locus on chromosome 14 and the CCND1 gene on chromosome 11, leading to the overexpression of cyclin D1. Cyclin D1 promotes cell proliferation, contributing to the aggressive behavior of the lymphoma. Blastoid MCL also shows a high Ki-67 proliferation index and can have other genetic alterations, such as TP53 mutations, which contribute to its aggressive nature and impact its prognosis.
Recognizing the Indicators and How It’s Identified
Blastoid mantle cell lymphoma often presents with widespread disease at diagnosis. Common indicators include swollen lymph nodes, which are usually painless. Patients may also experience systemic “B symptoms,” such as fever, drenching night sweats, and unexplained weight loss. Other symptoms can include fatigue, breathlessness, dizziness due to low red blood cell counts, and frequent infections from low white blood cell counts.
Extranodal involvement is common, meaning the lymphoma can spread outside the lymph nodes to other organs. This can manifest as an enlarged spleen, causing discomfort or a feeling of fullness. Gastrointestinal tract involvement is also frequent, potentially leading to abdominal pain, diarrhea, or sickness. Bone marrow involvement is seen in a high percentage of cases, which can result in blood count abnormalities like anemia or bleeding problems.
The diagnostic process typically begins with a physical examination to identify enlarged lymph nodes or an enlarged spleen. This is followed by a biopsy, often of an enlarged lymph node, where a tissue sample is taken for microscopic examination. Specialized laboratory tests are then conducted on the biopsy sample, including immunohistochemistry, which helps confirm the diagnosis by looking for specific protein markers like CD20 and cyclin D1, which are often positive in blastoid MCL.
Flow cytometry can further analyze the cells’ surface markers, while molecular genetic testing, such as FISH (fluorescence in situ hybridization), is used to detect the t(11;14) translocation and other genetic changes like TP53 mutations. Imaging tests, such as CT scans and PET-CT scans, are performed to assess the extent of the disease and identify all affected areas. A bone marrow biopsy is also commonly performed to check for lymphoma cells in the bone marrow and to help stage the disease.
Current Treatment Options
Treatment for blastoid mantle cell lymphoma is often intensive due to its aggressive nature and typically advanced stage at diagnosis. Chemotherapy regimens are a primary modality, with intensive multi-agent regimens frequently employed. These may include regimens like R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) or more aggressive protocols such as R-HyperCVAD (rituximab, hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone) alternating with high-dose cytarabine.
Immunotherapy, particularly with rituximab, an anti-CD20 antibody, is integrated into most treatment plans. Rituximab targets the CD20 protein found on the surface of lymphoma cells, helping the immune system to destroy them.
Targeted therapies have also significantly changed the treatment landscape for MCL. Bruton’s tyrosine kinase (BTK) inhibitors, such as ibrutinib, acalabrutinib, and zanubrutinib, block a protein involved in B-cell growth and survival. These agents have shown success in inducing remissions, particularly in relapsed or refractory cases. Another targeted therapy is venetoclax, a BCL-2 inhibitor, which can be used alone or in combination with BTK inhibitors, especially in relapsed/refractory settings.
For eligible patients, especially younger individuals, stem cell transplantation is considered a consolidation therapy after initial chemotherapy. Autologous stem cell transplantation (auto-SCT) involves using the patient’s own stem cells. Allogeneic stem cell transplantation (allo-SCT), using donor cells, may also be an option for certain patients and has been associated with long-term disease control in some cases. Clinical trials exploring novel agents and combinations are ongoing, offering additional options for patients. Treatment plans are highly individualized, taking into account the patient’s overall health, disease characteristics, and genetic markers.
Living with Blastoid Mantle Cell Lymphoma and Prognosis
Blastoid mantle cell lymphoma is recognized for its aggressive nature and historically poor prognosis compared to classic MCL. However, advancements in treatment strategies, including intensive immunochemotherapy and targeted therapies, have led to improved outcomes.
Ongoing monitoring and follow-up care are important after treatment to detect any signs of recurrence and manage long-term side effects. This typically involves regular physical examinations, blood tests, and imaging studies like PET-CT scans. Supportive care helps manage treatment side effects and improve quality of life.
A multidisciplinary care team, including oncologists, nurses, and other specialists, provides comprehensive care. Patient support groups and mental health resources can also offer emotional support and practical advice.