Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
30 Cards in this Set
- Front
- Back
|
Which of the following cell surface markers is associated with a more aggressive subtype of CLL/SLL?
A. CD13 B. CD20 C. FMC-7 D. CD38 E. CD125 |
D. CD38.
Trisomy 12 and CD38 have been identified with a subset of cases of CLL/SLL with a more aggressive clinical course. DNA array studies have supported the findings of subtypes of CLL/SLL. Remember that CLL/SLL is typically associated with dim CD20 and consequent absent FMC-7. QCCP2, Immunophenotyping |
|
|
Which of the following surface markers is expressed on nearly all cells but is decreased in paroxysmal nocturnal hemoglobinuria?
A. CD19 B. CD57 C. CD59 D. CD99 E. CD123 |
C. CD59.
CD59 (MIRL) and CD55 (DAF) are greatly reduced in cases of the acquired PIG-A mutation, which manifests as paroxysmal nocturnal hemoglobinuria. QCCP2, Immunophenotyping |
|
|
CD99 expression is present in all the following, except:
A. Ewing sarcoma B. lymphoblastic lymphoma C. granulosa cell tumor D. synovial sarcoma E. CD99 is expressed in all of the above |
E. CD99 is expressed in all of the above.
CD99 was originally considered specific for Ewing/PNET, but as time has passed, it is now evident that many more tumors stain with CD99. In addition to the examples above, it is also expressed in some rhabdomyosarcomas and solitary fibrous tumors. QCCP2, Immunophenotyping |
|
|
Which of the following malignancies can be positive for CD117?
A. GI stromal tumor B. seminoma C. mastocytoma D. A & B E. A, B, C |
E. A, B, C.
c-kit, or CD117, is found on the cell surface of a number of malignancies as well as non-malignant cells (junctional melanocytes and interstitial cells of Cajal). QCCP2, Immunophenotyping |
|
|
In which of the following is HLA-DR most consistently expressed?
A. acute promyelocytic leukemia B. B cell acute lymphocytic leukemia C. T cell acute lymphocytic leukemia D. immature T cells E. granulocytes |
B. B cell acute lymphocytic leukemia.
HLA-DR is a type of MHC-Class II protein, expressed usually on the surface of antigen-presenting cells as a receptor for CD4+ T cells to recognize. QCCP2, Immunophenotyping |
|
|
Which of the following immunoglobulin domains are expressed on the heavy chain and not the light chains?
A. V B. D C. J D. C E. all of the above are expressed in both |
B. D.
The first step in assembling heavy chains is D:J recombination followed by addition of the variable (V domain. On the kappa and lambda light chains there is no D (diversity domain), so only VJ segments compose the mature light chain. QCCP2, Molecular technique |
|
|
Which of the following patterns best represents the order in which immunoglobulin chains rearrange in B cells?
A. heavy chains, kappa light chain, lambda light chain B. kappa light, heavy, lambda C. kappa, lambda, heavy D. lambda, kappa, heavy E. heavy, lambda, kappa |
A. heavy chains, kappa light chains, lambda light chain.
It's alphabetical - H before K before L. First, heavy chain rearranges, which is followed by kappa rearrangement. Lambda chains will only form if kappa chains don't. This may explain why kappa chains outnumber lambda chains (3-4:1, right?). QCCP2, Molecular techniques |
|
|
What general rule of thumb is used for lower limit of detection of a clonal rearrangement implying malignancy?
A. clone composing 0.1-0.5% of total cells B. clone composing >1-5% of total cells C. clone composing >5-10% of total cells D. clone composing >10-50% of total cells E. clone composing >50% |
B. clone composing >1-5% of total cells.
With more than 1-5% of total cells represented by clonal cells, one can be fairly certain of a malignant process. Coincidentally, the gold standard for demonstration of clonal process is Southern blot, and the lower limit of detection by Southern blot is more than 1-5% cells. QCCP2, Molecular techniques |
|
|
Which of the following procedures represents the second step of Southern blotting?
A. apply DNA to agarose gel and subject to electrophoresis B. digest DNA with restriction endonucleases C. transfer DNA to membrane D. apply labeled probe E. extract DNA from cells with interest |
B. digest DNA with restriction endonucleases.
The order of steps presented are E, B, A, C, D. After the probe hybridization and washing, the membrane is placed on film or a detector, then analyzed. A monoclonal process will display a band not present in the germline control. QCCP2, Molecular techniques |
|
|
All of the following translocations are suited for diagnosis by PCR, except:
A. t(14;18) B. t(2;5) C. t(15;17) D. t(11;14) E. t(9;22) |
D. t(11;14).
Mantle cell lymphoma and the t(11;14) translocation (IgH-cyclin D) are poorly suited for diagnosis by PCR. All of the other translocations can be sensitively diagnosed by PCR. QCCP2, Molecular techniques |
|
|
Which of the following modalities is best suited for detecting translocations involving bcl-1 (cyclin D) gene?
A. cytogenetics B. PCR C. fluorescence in situ hybridization (FISH) D. Southern blot E. immunohistochemistry |
C. fluorescent in situ hybridization (FISH).
FISH surpasses all other techniques with a sensitivity greater than 95%. That's followed (in order of decreasing sensitivity) by cytogenetics, Southern blot, and PCR. The decreased sensitivity of PCR is of particular note. Though the analytical sensitivity of PCR often exceeds that of all other techniques, the assay can also be far less sensitive than other modalities due to its requirement for defined amplifiable sequences, which is often limited by random translocation points and, to a lesser extent, overly long sequences too big to amplify. QCCP2, T4.4 Detection of bcl-1 by various modalities |
|
|
What is the most common mode of inheritance of hereditary spherocytosis?
A. autosomal recessive B. autosomal dominant C. X-linked recessive D. X-linked dominant E. it is not inherited; it is sporadic |
B. autosomal dominant.
The majority of cases of hereditary spherocytosis are autosomal dominant, while a few are autosomal recessive. There are a number of proteins that can be affected leading to the phenotype, such as ankyrin, spectrin, and Band 3. QCCP2, Hereditary spherocytosis (HS) |
|
|
Which RBC index is most consistently abnormal in cases of hereditary spherocytosis?
A. RBC count B. MCV C. Hct D. Hgb E. MCHC |
E. MCHC.
Even though clinically patients with HS experience chronic hemolysis, they often compensate well with an increased reticulocyte count. This accounts for the minimal change in hemoglobin, RBC count, and hematocrit. Also, due to the small spherocytes and the large reticulocytes, the MCV is fairly normal, though the RDW may be increased. Most often in HS, the MCHC is increased. QCCP2, Hereditary spherocytosis (HS) |
|
|
Which of the following tests is most often performed to diagnose hereditary spherocytosis?
A. osmotic fragility test B. DAT C. Ham's test D. flow cytometry E. oxidative stress test |
A. osmotic fragility test.
To diagnose hereditary spherocytosis, one can use either the osmotic fragility test, which identifies spherocytes by their increased fragility with changes in NaCl concentration, or the autohemolysis test, which is similar but uses heat instead of salt to identify the spherocytes, which lyse more readily. QCCP2, Hereditary spherocytosis (HS) |
|
|
What protein is most commonly mutated in hereditary elliptocytosis?
A. ankyrin B. spectrin C. band 3 D. protein 4.2 E. elliptocin |
B. spectrin.
Most often, HE is due to the inability to form spectrin tetramers, the main cytoskeletal stabilizing force in red blood cells. HE is inherited like HS, in a predominantly autosomal dominant fashion. HE is composed of a number of different diseases that share elliptocytes, including common HS, hereditary pyropoikilocytosis in African- Americans, spherocytic elliptocytosis in Europeans, and stomatocytic elliptocytosis. It is most common in S.E. Asia and conferring resistance to Plasmodium vivax. QCCP2, Hereditary elliptocytosis |
|
|
What is the most common etiology in hereditary stomatocytosis?
A. abnormal Na/K permeability B. deficient cytoskeletal structural proteins C. inability to repair oxidative stress damage D. hemoglobin mutation resulting in qualitative defects in hemoglobin E. ATP depletion due to glycolytic enzyme deficiency |
A. abnormal Na/K permeability.
There are two classes of hereditary stomatocytosis: those that have too much water in red blood cells and those with too little water. These water balance issues are due to abnormal Na/K permeability. Two important facts - splenomegaly is common in hereditary stomatocytosis, like most other chronic hemolytic disease, but splenectomy leads to increased risk of thrombosis in these patients, so it is not done. Also, the Rhnull phenotype is associated with stomatocytosis. QCCP2, Hereditary stomatocytosis |
|
|
All of the following features of G6PD deficiency are typically seen on a Wright-Giemsa-stained peripheral smear, except:
A. poikilocytosis B. spherocytosis C. bite cells D. blister cells E. Heinz bodies |
E. Heinz bodies.
While Heinz bodies representing precipitated hemoglobin are typically seen in G6PD deficiency, only supravital stains, such as crystal violet, are able to demonstrate the characteristic Heinz bodies. QCCP2, G6PD |
|
|
What is the best time to perform diagnostic testing for G6PD deficiency?
A. during a hemolytic crisis B. 3 days after a hemolytic crisis C. 3 weeks after a hemolytic crisis D. 1 month after a hemolytic crisis E. 3 months after a hemolytic crisis |
E. 3 months after a hemolytic crisis.
During a hemolytic crisis, the older cells with proportionally less G6PD are destroyed more readily than the younger cells, which have normal G6PD levels. Therefore, testing before the cells lose G6PD would give false negative results. QCCP2, G6PD |
|
|
Which of the following abnormal RBC morphologies is associated with pyruvate kinase deficiency?
A. acanthocytes B. dacrocytes C. echinocytes D. drepanocytes E. stomatocytes |
C. echinocytes.
Echinocytes or “spiny cells” are classically seen in the post-splenectomy patient with pyruvate kinase deficiency. QCCP2, Pyruvate kinase deficiency |
|
|
This condition is also known by a more descriptive acronym:
A. CDA, type I B. CDA, type II C. CDA, type III D. pyruvate kinase deficiency E. paroxysmal nocturnal hemoglobinuria |
B. CDA, type II.
Congenital dyserythropoietic anemia, type II is the most common of CDAs and the only one that has a positive acidified serum test, hence the acronym HEMPAS, which stands for “hereditary erythroblastic multinuclearity with positive acidified serum test.” The deficiency is CDA, type II is poorly understood but leads to decreased glycosylation of the red blood cell structural protein, Band 3 and increased i antigen on red blood cells. QCCP2, CDA |
|
|
What is the method of inheritance of paroxysmal nocturnal hemoglobinuria?
A. X-linked recessive B. X-linked dominant C. autosomal recessive D. autosomal dominant E. it's not inherited; it's sporadic |
E. it's not inherited; but rather sporadic.
Though PNH has features of an inherited disorder affecting multiple cell lines at fairly early stages of development, it is important to remember that it's due to a sporadic mutation of the phosphatidyl inositol glycan A (PIG-A) gene. The PIG-A mutation leads to decreased conjugation of particular proteins with a glycosyl phosphatidyl inositol (GPI cell surface anchor). The result is decreased cell surface expression of a number of protective proteins, such as membrane inhibitor of lysis (MIRL, CD59). QCCP2, Paroxysmal nocturnal hemoglobinuria |
|
|
All of the following test results are consistent with a diagnosis of paroxysmal nocturnal hemoglobinuria, except:
A. decreased conversion of NADH to NAD B. increased hemolysis in isotonic sucrose C. increased hemolysis in acidified heterologous and homologous serum D. diminished CD55/59 on leukocytes, platelets, and red blood cells E. decreased LAP score |
A. decreased conversion of NADH to NAD.
Decreased NAD is seen in pyruvate kinase deficiency. All of the other test results are consistent with the diagnosis of paroxysmal nocturnal hemoglobinuria. It is important to note that hemolysis in acid serum occurs with both homologous and heterologous serum, unlike in CDA, type II, where hemolysis occurs with heterologous serum - it's a complement thing. QCCP2, PNH, CDA |
|
|
Which of the following RBC inclusions are seen in sideroblastic anemia and contain high amounts of iron?
A. Cabot rings B. Howell-Jolly bodies C. Heinz bodies D. Pappenheimer bodies E. Hunt bodies |
D. Pappenheimer bodies.
In sideroblastic anemia, there is increased iron, which is typically deposited around the nucleus or erythroid precursor cells, the so-called ringed sideroblasts. QCCP2, Sideroblastic anemia |
|
|
What accounts for the majority of cases of sideroblastic anemia?
A. clonal stem cell defect B. medications C. alcohol D. irradiation E. copper deficiency |
A. clonal stem cell defect.
Myelodysplastic syndromes, such as refractory anemia with ringed sideroblasts, where patients present with macrocytic hypochromic anemia and >15% ringed sideroblasts in the marrow, account for the majority of cases. All of the other choices presented are causes of sideroblastic anemia, but less so. QCCP2, Sideroblastic anemia |
|
|
At which stage of erythroid development does parvovirus arrest?
A. erythroblast B. normoblast C. pronormoblast D. reticulocyte E. erythrocyte |
C. pronormoblast.
Erythroid cells infected with parvovirus arrest at the pronormoblast developmental stage, which accounts for the characteristic giant pronormoblasts with glassy nuclear inclusions seen with infection. QCCP2, Pure red cell aplasia |
|
|
All of the following are true about Blackfan-Diamond syndrome, except:
A. it is an inherited constitutional red cell aplasia B. erythroid precursors in the bone are decreased C. it usually responds to corticosteroids D. leukocytes are also decreased, platelets are unaffected E. i antigen is often present in high levels on red blood cells |
D. leukocytes are also decreased, platelets are unaffected.
Blackfan-Diamond syndrome is a pure red cell aplasia, meaning that other cell lines are unaffected - platelets and leukocytes are normal. All the other selections are true; patients (~75%) respond to steroid therapy. QCCP2, Pure red blood cell aplasia |
|
|
To what class of disorders does Fanconi anemia belong?
A. autosomal dominant proto-oncogenic activation B. X-linked recessive C. autosomal recessive chromosome breakage D. X-linked dominant E. mitochondrial |
C. autosomal recessive chromosomal breakage.
Along with xeroderma pigmentosum, ataxia telangiectasia, Bloom syndrome, and Cockayne syndrome, Fanconi syndrome is a disorder characterized by increased chromosomal breakage, most likely due to defects in repair of DNA breaks. QCCP2, Fanconi anemia |
|
|
What do Blackfan-Diamond, Kostman, and thrombocytopenia with absent radii syndromes have in common?
A. all are inherited in an autosomal dominant fashion B. all are associated with horseshoe kidney C. all have associated thrombocytopenia D. all are aplastic disorders of a single cell line E. the cells are all hypersensitive to clastogenic agents |
D. all are aplastic disorders of a single cell line.
Each of the syndromes is associated with aplasia of a single hematopoietic line. Blackfan-Diamond has aplastic anemia, Kostmann has neutropenia, and with thrombocytopenia, absent radii syndrome is evident. QCCP2, Fanconi anemia |
|
|
What is the approximate prevalence of sickle cell trait among African-Americans?
A. 0.01% B. 0.1% C. 2% D. 10% E. 33% |
D. 10%.
Sickle cell disease is among the most common inherited diseases in the African-American population, with a carrier frequency over twice as high as the carrier frequency Sickle cell disease is among the most common inherited diseases in the African-American population, with a carrier frequency over twice as high as the carrier frequency of hemochromatosis in Caucasians. QCCP2, HbS |
|
|
What is the average lifespan of red blood cells with HbSS?
A. 5 days B. 17 days C. 38 days D. 56 days E. 120 days |
B. 17 days.
The red blood cells containing HbSS have a lifetime 1/10 of a normal RBCs due to the formation of destructive polymers of deoxygenated hemoglobin, which causes the RBCs to lose flexibility and sickle. QCCP2, Hb Sickle cell disease |
