Lymphoid and Myeloid Neoplasms: MCQs and case studies with answers (Pathology)

Lymphoid neoplasms:
Lymphoid neoplasms primarily involve the lymphatic system, which includes lymph nodes, spleen, thymus, and bone marrow. It is the abnormal growth and proliferation of lymphocytes. 

Lymphoid neoplasms can be broadly categorized into two main groups:
  • Hodgkin lymphoma (HL): HL is characterized by the presence of Reed-Sternberg cells, which are large, abnormal cells derived from B cells. 

  • (Non-Hodgkin lymphoma (NHL): NHL encompasses a diverse group of lymphoid malignancies that can arise from B cells, T cells, or natural killer (NK) cells.
Myeloid neoplasms 
These are a group of disorders characterized by abnormal growth and development of cells in the myeloid lineage, which includes granulocytes, monocytes erythrocytes, platelets, etc. 

Myeloid neoplasms can be broadly classified into two main categories:
  • Myeloproliferative neoplasms (MPNs): MPNs are characterized by the neoplastic proliferation of multipotent myeloid stem cells in the bone marrow. Common types of MPNs include chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
  • Myelodysplastic syndromes (MDS): MDS refers to a group of disorders characterized by ineffective blood cell production in the bone marrow, leading to low blood counts. Dysplastic changes include Pegler-Huet cells, ring sideroblasts, nuclear budding, and "pawn ball" megakaryocytes. MDS are considered preleukemia and there is an increased risk of developing acute leukemia (AML) in these patients.
             
                  Multiple Choice Questions on Lymphoid and Myeloid Neoplasm

1. Which of the following is NOT a primary characteristic feature of chronic myeloid leukemia (CML)?
a) Presence of the Philadelphia chromosome
b) Increased T-lymphoid lineage
c) Overproduction of myeloid lineages
d) Hypercellular bone marrow increased myelocytes


2. Which of the following genetic abnormalities is commonly associated with the majority of acute lymphoblastic leukemia (ALL)?
a) t(9;22) BCR-ABL1 fusion gene
b) t(15;17) PML-RARA fusion gene
c) t(8;21) AML1-ETO fusion gene
d) t(12;21) TEL-AML1 fusion gene


3. Which of the following is a characteristic feature of follicular lymphoma?
a) Reed-Sternberg cells
b) t(9;22) BCR-ABL1 fusion gene
c) t(14;18) BCL2-IGH fusion gene
d) Bone marrow fibrosis


4. Which of the following is a common finding in acute myeloid leukemia (AML)?
a) Hypersegmented neutrophils
b) t(14;18) BCL2-IGH fusion gene
c) Basophilia
d) Auer rods


5. Which of the following is a characteristic feature of multiple myeloma?
a) Overproduction of monoclonal plasma cells
b) t(9;22) BCR-ABL1 fusion gene
c) Hypercellular bone marrow with increased blasts
d) Lymphadenopathy

6. Which of the following is a characteristic feature of chronic lymphocytic leukemia (CLL)?
a) Presence of the Philadelphia chromosome
b) Pancytopenia
c) Hypercellular bone marrow with increased blasts
d) Presence of Reed-Sternberg cells


7 Which of the following is NOT a common subtype of non-Hodgkin lymphoma?
a) Diffuse large B-cell lymphoma (DLBCL)
b) Burkitt lymphoma
c) Hodgkin lymphoma
d) Mantle cell lymphoma


8. Which of the following genetic abnormalities is commonly associated with myelodysplastic syndromes (MDS)?
a) t(9;22) BCR-ABL1 fusion gene
b) t(15;17) PML-RARA fusion gene
c) t(5;12) PDGFRB rearrangement
d) Loss of genetic material on chromosome 5 or 7


9. Which of the following is a characteristic feature of hairy cell leukemia (HCL)?
a) Splenomegaly with "fried egg" appearance of cells
b) t(9;22) BCR-ABL1 fusion gene
c) Presence of Reed-Sternberg cells
d) Hyper segmented neutrophils


10. Which of the following is a common finding in myeloproliferative neoplasms (MPNs)?
a) t(8;21) AML1-ETO fusion gene
b) Bone marrow fibrosis
c) Hypocellular bone marrow
d) Lymphadenopathy

Answers:
1. c) Overproduction of mature myeloid cells
2. d) t(12;21) TEL-AML1 fusion gene
3. c) t(14;18) BCL2-IGH fusion gene
4. d) Auer rods
5. a) Overproduction of monoclonal plasma cells
6. b) Pancytopenia
7. c) Hodgkin lymphoma
8. d) Loss of genetic material on chromosome 5 or 7
9. a) Splenomegaly with "fried egg" appearance of cells
10. b) Bone marrow fibrosis

Case studies 

Case I
A 60-year-old male presents with fatigue, weight loss, and splenomegaly. Laboratory tests reveal leukocytosis, anemia, and thrombocytosis. Bone marrow biopsy shows hypercellularity with increased granulocytes and megakaryocytes. The JAK2 V617F mutation is detected. Which of the following is the most likely diagnosis?
a) Chronic myeloid leukemia (CML) 
b) Polycythemia vera (PV) 
c) Essential thrombocythemia (ET) 
d) Primary myelofibrosis (PMF)

Case II
 A 35-year-old female presents with painless enlargement of cervical lymph nodes, night sweats, and weight loss. Excisional lymph node biopsy shows the presence of Reed-Sternberg cells surrounded by an inflammatory background. Which of the following is the most likely diagnosis? 
a) Hodgkin lymphoma, nodular sclerosis subtype 
b) Non-Hodgkin lymphoma, diffuse large B-cell lymphoma 
c) Acute lymphoblastic leukemia (ALL) 
d) Chronic lymphocytic leukemia (CLL)

Case III
 A 70-year-old male presents with weakness, shortness of breath, and easy bruising. Laboratory tests reveal anemia, thrombocytopenia, and blasts in the peripheral blood. Bone marrow biopsy shows dysplastic changes in myeloid cells and increased blasts. Flow cytometry reveals expression of CD34, CD117, and myeloid markers. Which of the following is the most likely diagnosis? 
a) Acute myeloid leukemia (AML)
b) Myelodysplastic syndrome (MDS) 
c) Chronic myelomonocytic leukemia (CMML) 
d) Juvenile myelomonocytic leukemia (JMML)

Case IV
A 45-year-old female presents with abdominal pain, early satiety, and weight loss. Imaging studies reveal splenomegaly and multiple enlarged lymph nodes. Bone marrow biopsy shows fibrosis and increased reticulin fibers. Which of the following is the most likely diagnosis? 
a) Chronic myeloid leukemia (CML) 
b) Polycythemia vera (PV) 
c) Essential thrombocythemia (ET) 
d) Primary myelofibrosis (PMF)

Case V
 A 55-year-old male presents with generalized lymphadenopathy, night sweats, and fatigue. Flow cytometry of lymph node biopsy shows a clonal population of B cells expressing CD20, CD10, and BCL6. Cytogenetic analysis reveals t(14;18) translocation. Which of the following is the most likely diagnosis? 
a) Follicular lymphoma 
b) Diffuse large B-cell lymphoma (DLBCL) 
c) Mantle cell lymphoma 
d) Burkitt lymphoma

Answers and Explanation for Case Studies 

Case I
Answer: b) t(9;22) Explanation: The t(9;22) chromosomal translocation, also known as the Philadelphia chromosome, is the most common genetic abnormality associated with chronic myeloid leukemia (CML). It leads to the formation of the BCR-ABL1 fusion gene, which results in the constitutive activation of tyrosine kinase signaling pathways, promoting the uncontrolled growth of myeloid cells.

Case II
Answer: a) Reed-Sternberg cells Explanation: The presence of Reed-Sternberg cells is a characteristic histological finding in Hodgkin lymphoma. These large abnormal cells have distinctive bilobed or multilobed nuclei with prominent nucleoli. The identification of Reed-Sternberg cells surrounded by an inflammatory background is crucial for the diagnosis of Hodgkin lymphoma.

Case III
Answer: b) Polycythemia vera (PV) Explanation: The combination of leukocytosis, anemia, thrombocytosis, and splenomegaly, along with the presence of the JAK2 V617F mutation, is consistent with the diagnosis of polycythemia vera (PV). PV is characterized by the excessive production of red blood cells, white blood cells, and platelets, leading to increased blood viscosity and a predisposition to thrombotic events.

Case IV
Answer: d) Primary myelofibrosis (PMF) Explanation: The presence of splenomegaly, multiple enlarged lymph nodes, and bone marrow biopsy findings showing fibrosis and increased reticulin fibers are indicative of primary myelofibrosis (PMF). PMF is a myeloproliferative neoplasm characterized by the progressive replacement of bone marrow with fibrous tissue, leading to cytopenias and extramedullary hematopoiesis.

Case V
Answer: a) Follicular lymphoma Explanation: The expression of CD20, CD10, and BCL6, along with the t(14;18) translocation, is consistent with the diagnosis of follicular lymphoma. Follicular lymphoma is a common subtype of non-Hodgkin lymphoma characterized by the proliferation of abnormal B cells in a follicular pattern. The t(14;18) translocation involves the BCL2 gene, leading to the overexpression of the anti-apoptotic protein BCL2.

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