Practice questions myeloid neoplasms 3

Practice questions
Myeloid neoplasms III

© Jun Wang, MD, PhD

1. Use this case and image for the next three questions. A 59-year-old man presents with fatigue, dizziness, and periodic headache for a month. He has had vague left upper abdomen discomfort for 6 months. He denies history of other symptoms including fever. His past medical history is unremarkable. He does not smoke cigarette or drink alcohol. His vital signs are within normal range, except a blood pressure of 180/110 mm Hg. Physical examination reveals moderate ruddy tone on both cheeks. No rash or edematous changes are seen on his skin. His abdomen is slightly distended. His spleen is 5 cm below left costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 19.5 g/dl (normal 14-18 g/dl), white cell count of 7.5 x 109/L (normal 5-11 x 109/L), platelet count 545 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of his peripheral blood smear is shown. No blast is found. His bone marrow biopsy reveals hypercellular marrow with increased population of erythroid and megakaryocytic precursors. No abnormal morphology is noted in three lineages. The reticulin fiber is slightly increased. What test is likely to confirm the diagnosis?
(Image credit: The Armed Forces Institute of Pathology (AFIP) [Public domain])
A. Biopsy of spleen
B. Cytogenetics studies
C. Flow cytometry
D. JAK2 mutation analysis
E. Sonography

2. A 59-year-old man presents with fatigue, dizziness, and periodic headache for a month. He has had vague left upper abdomen discomfort for 6 months. He denies history of other symptoms including fever. His past medical history is unremarkable. He does not smoke cigarette or drink alcohol. His vital signs are within normal range, except a blood pressure of 180/110 mm Hg. Physical examination reveals moderate ruddy tone on both cheeks. No rash or edematous changes are seen on his skin. His abdomen is slightly distended. His spleen is 5 cm below left costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 19.5 g/dl (normal 14-18 g/dl), white cell count of 7.5 x 109/L (normal 5-11 x 109/L), platelet count 545 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of his peripheral blood smear is shown. No blast is found. His bone marrow biopsy reveals hypercellular marrow with increased population of erythroid and megakaryocytic precursors. No abnormal morphology is noted in three lineages. The reticulin fiber is slightly increased.

The JAK2V617F analysis is negative. Erythropoietin level is 2.1 IU/L (normal 3.7-36 IU/L). What additional test is likely to confirm the diagnosis?
(Image credit: The Armed Forces Institute of Pathology (AFIP) [Public domain])
A. Biopsy of spleen
B. Cytogenetics studies
C. Flow cytometry
D. JAK2exon mutation analysis
E. Sonography

3. A 59-year-old man presents with fatigue, dizziness, and periodic headache for a month. He has had vague left upper abdomen discomfort for 6 months. He denies history of other symptoms including fever. His past medical history is unremarkable. He does not smoke cigarette or drink alcohol. His vital signs are within normal range, except a blood pressure of 180/110 mm Hg. Physical examination reveals moderate ruddy tone on both cheeks. No rash or edematous changes are seen on his skin. His abdomen is slightly distended. His spleen is 5 cm below left costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 19.5 g/dl (normal 14-18 g/dl), white cell count of 7.5 x 109/L (normal 5-11 x 109/L), platelet count 545 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of his peripheral blood smear is shown. No blast is found. His bone marrow biopsy reveals hypercellular marrow with increased population of erythroid and megakaryocytic precursors. No abnormal morphology is noted in three lineages. The reticulin fiber is slightly increased.

The JAK2V617F analysis is negative. Erythropoietin level is 2.1 IU/L (normal 3.7-36 IU/L). What is most likely the diagnosis?

(Image credit: The Armed Forces Institute of Pathology (AFIP) [Public domain])
A. Acute myeloid leukemia
B. Chronic myeloid leukemia
C. Essential thrombocytosis
D. Polycythemia vera
E. Primary myelofibrosis
F. Secondary polycythemia


4. Use this image for the next question. A 61-year-old man presents with fatigue and progressive abdomen distention for 6 months. He has lost 20 pound during this period. He has a history of JAK2 V617F mutation positive polycythemia vera diagnosed at age 45 and has been treated with phlebotomy and low dose aspirin. He does not smoke cigarette or drink alcohol. His vital signs are within normal range. Physical examination reveals pale skin and slightly distended abdomen. His spleen is 8 cm below left costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 7.5 g/dl (normal 14-18 g/dl), white cell count of 11.5 x 109/L (normal 5-11 x 109/L), platelet count 495 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of his peripheral blood smear is shown. No blast is found. His bone marrow aspiration was not successful. Bone marrow biopsy reveals markedly increased reticulin. No abnormal morphology is noted in three lineages. What is most likely the diagnosis?
(Image credit: Dr Graham Beards [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Acute myeloid leukemia
B. Chronic myeloid leukemia
C. Iron deficiency anemia
D. Polycythemia vera, spent phase
E. Primary myelofibrosis


5. Use this case and image for the next four question. A 55-year-old woman presents with intermittent bioccipital headache for 3 months. She denies history of injury, fever, vision changes and other neurological symptoms. She has a history of migraine since age 45, that was treated with Motrin. She does not drink alcohol nor smoke cigarette. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 3 cm below left costal margin, and her liver is 5 cm below right costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 13.5 g/dl (normal 12-16 g/dl), white cell count of 9.3 x 109/L (normal 5-11 x 109/L), platelet count 970 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow biopsy reveals trilineage maturation without significant morphological abnormality. 5% of the hematopoietic cells are megakaryocytes (Normal around 2%). There is no evidence of fibrosis. What is most likely the diagnosis?
(Image credit: Ed Uthman, Attribution 2.0 Generic (CC BY 2.0))
A. Acute myeloid leukemia
B. Chronic myeloid leukemia
C. Essential thrombocytosis
D. Polycythemia vera
E. Primary myelofibrosis

6. A 55-year-old woman presents with intermittent bioccipital headache for 3 months. She denies history of injury, fever, vision changes and other neurological symptoms. She has a history of migraine since age 45, that was treated with Motrin. She does not drink alcohol nor smoke cigarette. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 3 cm below left costal margin, and her liver is 5 cm below right costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 13.5 g/dl (normal 12-16 g/dl), white cell count of 9.3 x 109/L (normal 5-11 x 109/L), platelet count 970 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow biopsy reveals trilineage maturation without significant morphological abnormality. 5% of the hematopoietic cells are megakaryocytes (Normal around 2%). There is no evidence of fibrosis. What test would likely to confirm the diagnosis?

(Image credit: Ed Uthman, Attribution 2.0 Generic (CC BY 2.0))
A. Biopsy of spleen
B. Cytogenetics studies
C. Flow cytometry
D. JAK2 V617F mutation analysis
E. Sonography

7. A 55-year-old woman presents with intermittent bioccipital headache for 3 months. She denies history of injury, fever, vision changes and other neurological symptoms. She has a history of migraine since age 45, that was treated with Motrin. She does not drink alcohol nor smoke cigarette. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 3 cm below left costal margin, and her liver is 5 cm below right costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 13.5 g/dl (normal 12-16 g/dl), white cell count of 9.3 x 109/L (normal 5-11 x 109/L), platelet count 970 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow biopsy reveals trilineage maturation without significant morphological abnormality. 5% of the hematopoietic cells are megakaryocytes (Normal around 2%). There is no evidence of fibrosis.

Molecular studies reveals no evidence of JAK2 V617F mutation. What genetic abnormality is most likely associated with these findings?

(Image credit: Ed Uthman, Attribution 2.0 Generic (CC BY 2.0))
A. ABL
B. KIT
C. MPL
D. RAR-alpha
E. RUNX1

8. A 55-year-old woman presents with intermittent bioccipital headache for 3 months. She denies history of injury, fever, vision changes and other neurological symptoms. She has a history of migraine since age 45, that was treated with Motrin. She does not drink alcohol nor smoke cigarette. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 3 cm below left costal margin, and her liver is 5 cm below right costal margin. No lymphadenopathy nor other abnormalities are noted. Laboratory tests reveal a hemoglobin of 13.5 g/dl (normal 12-16 g/dl), white cell count of 9.3 x 109/L (normal 5-11 x 109/L), platelet count 970 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow biopsy reveals trilineage maturation without significant morphological abnormality. 5% of the hematopoietic cells are megakaryocytes (Normal around 2%). There is no evidence of fibrosis.

Molecular studies reveals no evidence of JAK2 V617F mutation. What is most likely associated with these findings in her peripheral blood?
(Image credit: Ed Uthman, Attribution 2.0 Generic (CC BY 2.0))
A. Activating mutation of thrombopoietin receptor
B. Elevation of serum erythropoietin
C. Elevation of serum thrombopoietin
D. Inhibition of JAK2 activity
E. Release of TGF-beta in marrow


9. Use this case and image for the next four question. A 71-year-old woman presents with fatigue, night sweat, progressive abdominal distention and a 15 lb weight loss in 4 months. She denies history of fever or neurological symptoms. She has a history of ovarian cancer at age 48, that was treated with surgery and chemotherapy. She has a 50 pack-year history of cigarette smoking and drink 1 glass of wine each day. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 10 cm below left costal margin, and her liver is 7 cm below right costal margin. A few enlarged inguinal non-tender lymph nodes are palpated in both sides. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 5.5 g/dl (normal 12-16 g/dl), white cell count of 12.5 x 109/L (normal 5-11 x 109/L), platelet count 170 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow aspiration is unsuccessful and her bone marrow biopsy reveals marked fibrosis. Scattered macrophages with atypia are seen. What is most likely the diagnosis?
(Image credit: Paulo Henrique Orlandi Mourao [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Hairy cell leukemia
B. Iron deficiency anemia
C. Myelodysplastic syndrome
D. Polycythemia vera
E. Primary myelofibrosis

10. A 71-year-old woman presents with fatigue, night sweat, progressive abdominal distention and a 15 lb weight loss in 4 months. She denies history of fever or neurological symptoms. She has a history of ovarian cancer at age 48, that was treated with surgery and chemotherapy. She has a 50 pack-year history of cigarette smoking and drink 1 glass of wine each day. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 10 cm below left costal margin, and her liver is 7 cm below right costal margin. A few enlarged inguinal non-tender lymph nodes are palpated in both sides. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 5.5 g/dl (normal 12-16 g/dl), white cell count of 12.5 x 109/L (normal 5-11 x 109/L), platelet count 170 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow aspiration is unsuccessful and her bone marrow biopsy reveals marked fibrosis. Scattered macrophages with atypia are seen. Abnormality of what gene is most likely associated with these changes?

 
(Image credit: Paulo Henrique Orlandi Mourao [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. ABL
B. Hemoglobin alpha
C. Hemoglobin beta
D. JAK2
E. Spectrin

11. A 71-year-old woman presents with fatigue, night sweat, progressive abdominal distention and a 15 lb weight loss in 4 months. She denies history of fever or neurological symptoms. She has a history of ovarian cancer at age 48, that was treated with surgery and chemotherapy. She has a 50 pack-year history of cigarette smoking and drink 1 glass of wine each day. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 10 cm below left costal margin, and her liver is 7 cm below right costal margin. A few enlarged inguinal non-tender lymph nodes are palpated in both sides. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 5.5 g/dl (normal 12-16 g/dl), white cell count of 12.5 x 109/L (normal 5-11 x 109/L), platelet count 170 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow aspiration is unsuccessful and her bone marrow biopsy reveals marked fibrosis. Scattered macrophages with atypia are seen. What is the cause of her enlarged liver and spleen?


(Image credit: Paulo Henrique Orlandi Mourao [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Extramedullary hematopoiesis
B. Metastatic ovarian cancer
C. Portal hypertension
D. Splenic lymphoma
E. Viral infection

12. A 71-year-old woman presents with fatigue, night sweat, progressive abdominal distention and a 15 lb weight loss in 4 months. She denies history of fever or neurological symptoms. She has a history of ovarian cancer at age 48, that was treated with surgery and chemotherapy. She has a 50 pack-year history of cigarette smoking and drink 1 glass of wine each day. Her vital signs are within normal range. Physical examination reveals slightly distended abdomen. Her spleen is 10 cm below left costal margin, and her liver is 7 cm below right costal margin. A few enlarged inguinal non-tender lymph nodes are palpated in both sides. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 5.5 g/dl (normal 12-16 g/dl), white cell count of 12.5 x 109/L (normal 5-11 x 109/L), platelet count 170 x 109/L (normal 150-450 x 109/L). PT and aPTT are within normal range. An image of her peripheral blood smear is shown. No morphological abnormality is seen in white cells. Her bone marrow aspiration is unsuccessful and her bone marrow biopsy reveals marked fibrosis. Scattered macrophages with atypia are seen.

She was treated with ruxolitinib. 4 years later, she develops respiratory infection. CBC reveals a hemoglobin of 5.5 g/dl (normal 12-16 g/dl), white cell count of 19.3 x 109/L (normal 5-11 x 109/L), platelet count 225 x 109/L (normal 150-450 x 109/L). 45% of white cells are atypical and expressing CD33 and CD34, but not TdT. What is the diagnosis?
(Image credit: Paulo Henrique Orlandi Mourao [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Acute myeloid leukemia
B. Aplastic anemia
C. Myelodysplastic syndrome
D. Reactive leukocytosis
E. Ruxolitinib toxicity


13. Use this case and image for the next four questions. A 63-year-old man presents with fatigue, night sweat, fever, and a 20 lb weight loss in 2 months. His past medical history is unremarkable. He denies usage of alcohol, tobacco and illicit drugs. His vital signs are within normal range, except a temperature at 38.5 degree Celsius. Physical examination reveals pallor skin and mucosa. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 7.1 g/dl (normal 14-18 g/dl), white cell count of 3.1 x 109/L (normal 5-11 x 109/L), platelet count 110 x 109/L (normal 150-450 x 109/L) and red cell distribution width of 17% (normal 11.6-14.6%). PT and aPTT are within normal range. Peripheral blood smear reveals elevated variation of red cell sizes and a few bilobed neutrophils. No morphological abnormality is seen in platelets. Bone marrow aspiration reveals trilineage maturation with atypical erythroid precursors as shown in the image. Flow cytometry reveals 3% blasts. What test would most likely confirm the diagnosis?
(Image credit: TomskiiJA [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Cytogenetics studies
B. Ferritin
C. Hemoglobin electrophoresis
D. JAK2 V617F mutation analysis
E. Serum folate/vitamin B12 levels

14. A 63-year-old man presents with fatigue, night sweat, fever, and a 20 lb weight loss in 2 months. His past medical history is unremarkable. He denies usage of alcohol, tobacco and illicit drugs. His vital signs are within normal range, except a temperature at 38.5 degree Celsius. Physical examination reveals pallor skin and mucosa. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 7.1 g/dl (normal 14-18 g/dl), white cell count of 3.1 x 109/L (normal 5-11 x 109/L), platelet count 110 x 109/L (normal 150-450 x 109/L) and red cell distribution width of 17% (normal 11.6-14.6%). PT and aPTT are within normal range. Peripheral blood smear reveals elevated variation of red cell sizes and a few bilobed neutrophils. No morphological abnormality is seen in platelets. Bone marrow aspiration reveals trilineage maturation with atypical erythroid precursors as shown in the image. Flow cytometry reveals 3% blasts. What is most likely the diagnosis?
(Image credit: TomskiiJA [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Acute myeloid leukemia
B. Aplastic anemia
C. Iron-deficiency anemia
D. Megaloblastic anemia
E. Myelodysplastic syndrome

15. A 63-year-old man presents with fatigue, night sweat, fever, and a 20 lb weight loss in 2 months. His past medical history is unremarkable. He denies usage of alcohol, tobacco and illicit drugs. His vital signs are within normal range, except a temperature at 38.5 degree Celsius. Physical examination reveals pallor skin and mucosa. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 7.1 g/dl (normal 14-18 g/dl), white cell count of 3.1 x 109/L (normal 5-11 x 109/L), platelet count 110 x 109/L (normal 150-450 x 109/L) and red cell distribution width of 17% (normal 11.6-14.6%). PT and aPTT are within normal range. Peripheral blood smear reveals elevated variation of red cell sizes and a few bilobed neutrophils. No morphological abnormality is seen in platelets. Bone marrow aspiration reveals trilineage maturation with atypical erythroid precursors as shown in the image. Flow cytometry reveals 3% blasts. What is most likely the cause of his presentations?
(Image credit: TomskiiJA [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Bone marrow suppression
B. Folate deficiency
C. Hemoglobinopathy
D. Hematopoietic stem cell defects
E. Iron-deficiency

16. A 63-year-old man presents with fatigue, night sweat, fever, and a 20 lb weight loss in 2 months. His past medical history is unremarkable. He denies usage of alcohol, tobacco and illicit drugs. His vital signs are within normal range, except a temperature at 38.5 degree Celsius. Physical examination reveals pallor skin and mucosa. No other abnormalities are noted. Laboratory tests reveal a hemoglobin of 7.1 g/dl (normal 14-18 g/dl), white cell count of 3.1 x 109/L (normal 5-11 x 109/L), platelet count 110 x 109/L (normal 150-450 x 109/L) and red cell distribution width of 17% (normal 11.6-14.6%). PT and aPTT are within normal range. Peripheral blood smear reveals elevated variation of red cell sizes and a few bilobed neutrophils. No morphological abnormality is seen in platelets. Bone marrow aspiration reveals trilineage maturation with atypical erythroid precursors as shown in the image. Flow cytometry reveals 3% blasts.

Cytogenetics studies reveal del(7q). He was followed up and received red blood cell transfusion periodically. Four years later CBC in a follow up visit reveals a white count of 21.2 x 109/L (normal 5-11 x 109/L) wiht 25% blast in his peripheral blood. What is most likely the cause of changes in his CBC results?
(Image credit: TomskiiJA [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)])
A. Chronic transfusion reaction
B. Extramedullary hematopoiesis
C. Infection
D. Myelofibrosis
E. Transformation into acute myeloid leukemia


17. Use this image for the next question. A 37-year-old man presents with a vaguely painful right axillary mass for 6 months. His past medical history is unremarkable. He has two cats and a dog, and likes hunting and fishing. He denies usage of alcohol, tobacco and illicit drugs. His vital signs are within normal range. Physical examination reveals a 3.5 cm rubbery mobile mass at his right axilla. No other abnormality is noted. Laboratory tests are within normal ranges. The mass was removed and microscopically it is a lymph node with diffuse eosinophilic infiltrate. An image of electron microscopic examination is shown. What is most likely the diagnosis?
Image credit: Josef Neumüller, Sylvia Emanuela Neumüller-Guber, Johannes Huber, Adolf Ellinger and Thomas Wagner [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0)]
A. Allergic lymphadenitis
B. Cat scratch disease
C. Chronic lymphadenitis
D. Langerhans cell histiocytosis
E. Parasite infection



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