1. Which of the following results is typical for iron deficiency anemia?
A. Serum Iron: low; Transferrin Saturation (TSAT): Normal(N); Serum Ferritin: low; Hb: N; MCV: N; MCH: N; RDW: high ; soluble transferrin receptor (sTFR): high; Zn Protoporphyrin (ZPP): N; Serum Hepcidin: low; Reticulocyte Hb Content (CHr): low; BM iron stain: +
B. Serum Iron: low; TSAT : low; Serum Ferritin: low; Hb: low; MCV: low; MCH: low; sTFR: high; ZPP: high; Serum Hepcidin: significantly low; CHr : low; BM iron stain: -
C. Serum Iron: low; TSAT : N/low; Serum Ferritin: N/high; Hb: low; MCV: N/low; MCH: N/low; sTFR: N/high; ZPP: high; Serum Hepcidin: high; CHr : low; BM iron stain: +++
D. Serum Iron: low; TSAT : N/low; Serum Ferritin: N/low; Hb: low; MCV: low; MCH: low; sTFR: variable; ZPP: high; Serum Hepcidin: N/high; CHr : low; BM iron stain: +
2. Besides Philadelphia chromosome (Ph) translocation, t(9;22)(q34;q11)/BCRABL1, rearrangements of the KMT2A(MLL) gene at 11q23, and hypodiploidy of less than 44 chromosomes, the followings are also considered unfavorable/ high risk cytogenetic/molecular abnormalities in B acute lymphoblastic leukemia except:
A. t(17;19)(q22;p13)/TCF3-HLF
B. intrachromosomal amplification of chromosome 21
C. CRLF2 overexpression and JAK2 mutations
D. IKZF1 deletion
E. ETV6-RUNX1
3. Which of the followings is the least reliable feature to distinguish thalassemia minor/trait from iron-deficiency anemia?
A. Mentzer index
B. Normal MCHC and RDW
C. High % hbA2
D. Occasional target cells
E. Genetic test showing hb gene deletion or mutation
F. Basophilic stippling
4. Which of the following statements about hepcidin is not correct?
A. Produced in hepatocytes
B. Up-regulated by BMP6 signaling; down-regulated by matriptase-2, a liver-expressed type II transmembrane serine protease
C. Increased in anemia of chronic disease
D. Decreased in all types of hemochromatosis
E. Decreased in sideroblastic anemia
5. Which of the following statements about hereditary iron-refractory iron-deficiency anemia is not correct?
A. Hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2.
B. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values.
C. Refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia.
D. Serum iron low, serum ferritin low/normal.
E. Present at birth.
6. A 4 years old boy presented with thrombocytopenia (75K/ul). PB smear shows some large or giant thrombocytes and neutrophilic Dhole bodies. His brother has the same problem. Which of the following conditions is not related to the gene causing this boy's problem?
A. progressive nephropathy
B. sensorineural deafness
C. presenile cataract
D. Polycystic kidney disease
7. which of the following statements about Chediak-Higashi syndrome is not correct?
A. it is a rare autosomal recessive disorder.
B. It is one of the causes of congenital hemophagocytic lymphohistiocytosis.
C. The involved gene is CHS1/LYST at 1q42-43, and the gene product is related to lysosomal trafficking regulator, microtubule formation and organellar protein trafficking.
D. The defect involves lysosome, melanosome, platelet-dense granule and cytolytic granule.
E. Patients usually have an indolent clinical course.
F. Patient can have recurrent infection, bleeding, pale skin and central neural problem.
8. Which of the following statements about Philadelphia-like ALL is wrong?
A. It shows similar gene expression profile to Ph+ ALL.
B. The diagnosis needs presence of ABL gene alteration.
C. Gene alterations (JAK mutation and/or CRLF2 rearrangement) leading JAK/STAT activation are commonly seen.
D. IKZF1 deletion is commonly seen.
E. Usually associated with poor clinical outcome.
9. What is the advantage of erythocyte-folate test over serum folate test?
A. The former is more sensitive.
B. The former is easy to perform.
C. The former is less affected by diet.
D. The former can detect folate deficiency at earlier stage.
10. Which of the following statements about juvenile myelomonocytic leukemia is wrong?
A. 75% cases occur before 3 years old.
B. Children with NF1 have over 200 fold risk to develop JMML.
C. It is seen in patients with Noonan syndrome.
D. It usually shows chronic clinical course.
E. Mutations in RAS/MAPK signaling pathway are common.
F. Liver and spleen are always involved.
11. A surgeon called you for a patient who was scheduled for a heart surgery. Both patient's PT and aPTT were elevated. You reviewed pt's lab results and found that pt had hemoglobin of 20 g/dL and hematocrit of 60%. What should you tell the surgeon?
A. Add on tests for coagulation factors.
B. Patient's blood sample must be heparin contaminated.
C. Patient must have vitamin K deficiency.
D. Patient possibly has liver disease, cancel the heart surgery and treat liver disease first.
E. Contact coagulation lab to repeat the PT, aPTT tests with adjusted citrate anticoagulant volume.
12. The diagnosis of Hemophagocytic lymphohistiocytosis (HLH) is established either by finding of HLH-related gene defect or having 5 out of 8 clinical or laboratory findings. Which of the followings is not included in the diagnostic criteria for HLH?
A. Fever, splenomegaly, cytopenia.
B. Haemophagocytosis in the bone marrow, spleen, or lymph nodes without evidence of malignancy.
C. Low or absent natural killer cell cytotoxicity.
D. Hypertriglyceridaemia (≥265 mg/dL) and/or hypofibrinogenaemia (≤150mg/dL).
E. EBV or other viral infection.
F. Hyperferritinaemia (ferritin ≥500 ng/mL), elevated soluble CD25 (≥2400 IU/mL).
13. Which of the following statements about erythroferrone is not correct?
A. Erythroferrone is a recently discovered regulator of iron metabolism.
B. Erythroferrone increases iron absorption and mobilization from stores by inhibiting the transcription of hepcidin.
C. Erythroferrone is produced by erythroblasts in response to erythropoietin during stress erythropoiesis such as blood loss or hemolysis.
D. Erythroferrone is decreased in ineffective erythropoiesis such as thalassemia.
14. Which of the following statements about Ashwell-Morell receptor is not correct?
A. It is a regulator of hepatic thrombopoietin production discovered recently.
B. It can bind and remove desialylated platelets and stimulate JAK/STAT signaling pathway.
C. Binding of desialylated platelets to it induces hepatic expression of thrombopoietin.
D. It is the cause of thrombocytosis in some MPN cases.
15. Which pediatric disease can be caused by the mutations of breast cancer susceptibility genes (BRCA1 or BRCA2)?
A. dyskeratosis congenita.
B. Shwachman Diamond syndrome .
C. Diamond-Blackfan anemia.
D. Fanconi anemia.
E. Kostmann syndrome.
A. Serum Iron: low; Transferrin Saturation (TSAT): Normal(N); Serum Ferritin: low; Hb: N; MCV: N; MCH: N; RDW: high ; soluble transferrin receptor (sTFR): high; Zn Protoporphyrin (ZPP): N; Serum Hepcidin: low; Reticulocyte Hb Content (CHr): low; BM iron stain: +
B. Serum Iron: low; TSAT : low; Serum Ferritin: low; Hb: low; MCV: low; MCH: low; sTFR: high; ZPP: high; Serum Hepcidin: significantly low; CHr : low; BM iron stain: -
C. Serum Iron: low; TSAT : N/low; Serum Ferritin: N/high; Hb: low; MCV: N/low; MCH: N/low; sTFR: N/high; ZPP: high; Serum Hepcidin: high; CHr : low; BM iron stain: +++
D. Serum Iron: low; TSAT : N/low; Serum Ferritin: N/low; Hb: low; MCV: low; MCH: low; sTFR: variable; ZPP: high; Serum Hepcidin: N/high; CHr : low; BM iron stain: +
2. Besides Philadelphia chromosome (Ph) translocation, t(9;22)(q34;q11)/BCRABL1, rearrangements of the KMT2A(MLL) gene at 11q23, and hypodiploidy of less than 44 chromosomes, the followings are also considered unfavorable/ high risk cytogenetic/molecular abnormalities in B acute lymphoblastic leukemia except:
A. t(17;19)(q22;p13)/TCF3-HLF
B. intrachromosomal amplification of chromosome 21
C. CRLF2 overexpression and JAK2 mutations
D. IKZF1 deletion
E. ETV6-RUNX1
3. Which of the followings is the least reliable feature to distinguish thalassemia minor/trait from iron-deficiency anemia?
A. Mentzer index
B. Normal MCHC and RDW
C. High % hbA2
D. Occasional target cells
E. Genetic test showing hb gene deletion or mutation
F. Basophilic stippling
4. Which of the following statements about hepcidin is not correct?
A. Produced in hepatocytes
B. Up-regulated by BMP6 signaling; down-regulated by matriptase-2, a liver-expressed type II transmembrane serine protease
C. Increased in anemia of chronic disease
D. Decreased in all types of hemochromatosis
E. Decreased in sideroblastic anemia
5. Which of the following statements about hereditary iron-refractory iron-deficiency anemia is not correct?
A. Hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2.
B. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values.
C. Refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia.
D. Serum iron low, serum ferritin low/normal.
E. Present at birth.
6. A 4 years old boy presented with thrombocytopenia (75K/ul). PB smear shows some large or giant thrombocytes and neutrophilic Dhole bodies. His brother has the same problem. Which of the following conditions is not related to the gene causing this boy's problem?
A. progressive nephropathy
B. sensorineural deafness
C. presenile cataract
D. Polycystic kidney disease
7. which of the following statements about Chediak-Higashi syndrome is not correct?
A. it is a rare autosomal recessive disorder.
B. It is one of the causes of congenital hemophagocytic lymphohistiocytosis.
C. The involved gene is CHS1/LYST at 1q42-43, and the gene product is related to lysosomal trafficking regulator, microtubule formation and organellar protein trafficking.
D. The defect involves lysosome, melanosome, platelet-dense granule and cytolytic granule.
E. Patients usually have an indolent clinical course.
F. Patient can have recurrent infection, bleeding, pale skin and central neural problem.
8. Which of the following statements about Philadelphia-like ALL is wrong?
A. It shows similar gene expression profile to Ph+ ALL.
B. The diagnosis needs presence of ABL gene alteration.
C. Gene alterations (JAK mutation and/or CRLF2 rearrangement) leading JAK/STAT activation are commonly seen.
D. IKZF1 deletion is commonly seen.
E. Usually associated with poor clinical outcome.
9. What is the advantage of erythocyte-folate test over serum folate test?
A. The former is more sensitive.
B. The former is easy to perform.
C. The former is less affected by diet.
D. The former can detect folate deficiency at earlier stage.
10. Which of the following statements about juvenile myelomonocytic leukemia is wrong?
A. 75% cases occur before 3 years old.
B. Children with NF1 have over 200 fold risk to develop JMML.
C. It is seen in patients with Noonan syndrome.
D. It usually shows chronic clinical course.
E. Mutations in RAS/MAPK signaling pathway are common.
F. Liver and spleen are always involved.
11. A surgeon called you for a patient who was scheduled for a heart surgery. Both patient's PT and aPTT were elevated. You reviewed pt's lab results and found that pt had hemoglobin of 20 g/dL and hematocrit of 60%. What should you tell the surgeon?
A. Add on tests for coagulation factors.
B. Patient's blood sample must be heparin contaminated.
C. Patient must have vitamin K deficiency.
D. Patient possibly has liver disease, cancel the heart surgery and treat liver disease first.
E. Contact coagulation lab to repeat the PT, aPTT tests with adjusted citrate anticoagulant volume.
12. The diagnosis of Hemophagocytic lymphohistiocytosis (HLH) is established either by finding of HLH-related gene defect or having 5 out of 8 clinical or laboratory findings. Which of the followings is not included in the diagnostic criteria for HLH?
A. Fever, splenomegaly, cytopenia.
B. Haemophagocytosis in the bone marrow, spleen, or lymph nodes without evidence of malignancy.
C. Low or absent natural killer cell cytotoxicity.
D. Hypertriglyceridaemia (≥265 mg/dL) and/or hypofibrinogenaemia (≤150mg/dL).
E. EBV or other viral infection.
F. Hyperferritinaemia (ferritin ≥500 ng/mL), elevated soluble CD25 (≥2400 IU/mL).
13. Which of the following statements about erythroferrone is not correct?
A. Erythroferrone is a recently discovered regulator of iron metabolism.
B. Erythroferrone increases iron absorption and mobilization from stores by inhibiting the transcription of hepcidin.
C. Erythroferrone is produced by erythroblasts in response to erythropoietin during stress erythropoiesis such as blood loss or hemolysis.
D. Erythroferrone is decreased in ineffective erythropoiesis such as thalassemia.
14. Which of the following statements about Ashwell-Morell receptor is not correct?
A. It is a regulator of hepatic thrombopoietin production discovered recently.
B. It can bind and remove desialylated platelets and stimulate JAK/STAT signaling pathway.
C. Binding of desialylated platelets to it induces hepatic expression of thrombopoietin.
D. It is the cause of thrombocytosis in some MPN cases.
15. Which pediatric disease can be caused by the mutations of breast cancer susceptibility genes (BRCA1 or BRCA2)?
A. dyskeratosis congenita.
B. Shwachman Diamond syndrome .
C. Diamond-Blackfan anemia.
D. Fanconi anemia.
E. Kostmann syndrome.