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54 Cards in this Set
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A 5 y/o child has headache, vomiting, fatigue, and bone pain for several days. He looks pale and there are areas of tiny petechiae on his skin. Liver and spleen are enlarged. CBC shows anemia, neutropenia, and thrombocytopenia, 25% blasts.
What is the diagnosis? What surface marker should be used in flow cytometry to confirm the disgnosis? What will cytogenetics most likely show? |
1. B-ALL:
- abrupt onset - depression of bone marrow - bone/joint pain - CNS involvement: headach, vomit, palsies. 2. flow cytometry - TdT, CD19, cytoplasmic 79a 3. cytogenetics - t(12,21): good prognosis - t(1,19): poor prognosis |
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A 17 y/o girl had sudden onset of fever, headache, generalized lymphadenopathy, spleenomegaly, large thymus. CBC shows anemia, leukopenia, thrombocytopenia. Cytogenetics show philadelphia chromosome. Flow cytometry shows +CD3, CD5, CD7.
1. What is the diagonsis? 2. What morphology is typical of this disease? 3. good or bad prognosis? |
1. T-ALL
- acute onset - depression of bone marrow - bone pain - generalized lymphadenopathy, spleenomegaly, hepatomegaly. - CNS signs 2. morphology - "starry sky" appearance - lymphoblast with condensed nucleus, scant cytoplasm. 3. t(9,22) confers worse prognosis |
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A 35 y/o women complains about fatigue, fever, chills for several days. She has petechiae over the extremeties. She also mentioned bleeding of gums while brushing and nose bleed. CBC shows anemia, neutropenia, thrombocytopenia, 6% blasts. On blood smear, the abnormal cells shows Auer rods in the cytoplasm.
1. What is the diagnosis? 2. What might cytogenetic study show? |
1. AML
- acute onset - bleeding, infiltration od skin and gum - pancytopenia 2. cytogenetic - t(8,21): good prognosis - inv(16): good prognosis - t(15,17): APL - 11q23 translocations |
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55 y/o man came in for regular check-up. All labs came out normal except CBC which showed elevated WBC with 80% lymphocytes. Several lymph nodes are palpable, spleen is enlarged.
1. What do you suspect he has? 2. To confirm: what should flow cytometry read? 3. What will a typical blood smear show? 4. What genetic defect may be present? 5. What is the prognosis of this disease and what should you worry about? |
1. CLL
2. flow cytometry: +CD19, CD20, CD5, CD23 3. smudge cells, small lymphocytes with scant cytoplasm 4. trisomy 12, 11q del, 17q del, 13q14 del. 5. prognosis usually good except having 11q and 17q del. Worry about tranform to high grade large cell lymphoma. |
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A 59 y/o man complains about fatigue and past history shows frequent infections and autoimmune hemolytic anemia. On examination, he has enlarged spleen and liver. Cytogenetics show 11q deletion.
1. What disease do you suspect? 2. What flow cytometry results will confirm your suspicion? 3. What is his prognosis? |
1. CLL
2. flow cytometry: +CD19,CD20, CD5, CD23 3. poor prognosis because of 11q deletion. |
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A 58 y/o male complains about fever, heavy night sweat, fullness in the abdomen, loss of appetite, weight loss. On examination, a painless "bump" on the neck is noticed. Biopsy of the "bump" showed atrophied germinal center surrounded by lots of centrocytes with cleaved nuclei, no centroblast.
1. What do you suspect this patient has? 2. What flow cytometry result will confirm it? 3. What genetic abnormaly might he have? 4. What is his prognosis? |
1. Mantle cell lymphoma
2. flow cytometry: +cyclin D1, CD5, CD19, CD20 - CD23 3. t(11,14) 4. poor prognosis, not curable, 3-4 yrs median survival. |
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A 70 y/o woman complains about visual impairment and occasional nose bleed, diarrhea and itchy skin. Blood test showed IgM level >30gm/dl.
1. What is the diagnosis? 2. What would the morphology of blood cell look like? 3. What genetic abnormaly might be involved? 4. What are some future risks of this disease? 5. Is there a cure? |
1. Lymphoplasmacytic lymphoma
2. Russel(cytoplasm) and Dutcher(nucleus) inclusions in plasma cells, smal B cells. 3. t(9/14), 6q del, PAX rearrangement. 4. risk for cerebrovascular accidents, neurological problem, Raynold (crytoblobulinemia). 5. not curable, can be managed by plasmaphoresis. |
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A 72 y/o patient has a massive splenomegaly with enlarged mesenteric lymph nodes, no periperal lymph nodes palpable. Flow cytometry shows +CD19, CD20. Small lymphocytes present in splenic white pulp, bone marrow, villous lymphocytes in peripheral blood.
1. What is the diagnosis? 2. What are some genetic abnormality? 3. Is there a cure? |
1. Splenic Marginal-zone lymphoma
2. no genetic causes 3. splenectomy, or Rituximab (anti-CD20) |
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A 40 y/o female presents with indigestion, vague pain in the abdomen, weight loss and black stools. H. Pylori test came back positive. Endoscopy showed a mass in the stomach. Biopsy showed marked small lymphocytes, plasma cells and mantle zone cells.
1. What is the diagnosis? 2. What might flow cytometry show? 3. What genetic defect might be involved? 4. What treatment can be used? 5. What other precursor conditions may be associated with this disease? |
1. MALT
2. +CD19, CD20, CD79a 3. trisomy 13, t(1,14), t(11,18) 4. eradication of H. pylori (except t(11,18) which is resistant to the therapy). 5. Sjogren syndrome, Hashimoto's thyroiditis. |
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A 75 y/o white male complains about fatigue, abdominal fullness, early satiety. His spleen is enlarged. CBC shows pancytopenia. Bone marrow shows funny cells with oval nuclei and cytoplasmic projections. Flow cytometry shows +CD11c, CD25, CD103.
1. What is the diagnosis? 2. Is there a cure? |
1. Hairy cell leukemia
2. Curable: 2-chlorodeoxyadenosine |
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A 65 y/o patient's lymph node biopsy showed increase in number of both small and large cleaved lymphocytes. Flow cytometry shows +CD19,CD20, CD10, BCL-2.
1. What is the diagnosis? 2. What is the pathogenesis of this disease? 3. Is it curable? |
1. Follicular lymphoma
2. t(14,18): IgH/BCL-2 juxtaposition causes BCL-2 overexpression which leads to decrease in apoptosis. 3. No cure, indolent wax and wanning course. |
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A 60 y/o man presents with a painless swelling in the neck. He menitons loss of appetite and tiredness. Lymph node biopsy shows sheets of large cells.
1. What is the diagnosis? 2. What flow cytometry result can confirm this diagnosis? 3. What genetic defect is present? 4. Is it curable? |
1. Diffuse large B-Cell lymphoma
2. flow cytometry: +CD19, CD20, PAX-5, CD10 3. abnormality at 3q26(BCL-6) 4. aggressive disease, but responsive to chemotherapy. |
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A 7 y/o African Americna boy presents with a lumpy jaw. Biopsy showed "starry sky" appearance, median sized lymphocytes with cytoplasmic vacuoles.
1. What is the diagnosis? 2. What flow cytometry results can confirm? 3. What is the genetic defect? 4. Is it curable? |
1. Burkitt Lymphoma(endemic type)
2. flow cytometry: CD19, CD20, CD22, CD10, BCL-6 3. c-MYC translocations, EBV infections. 4. highly aggressive disease, but respond well to short term high dose chemotherapy. |
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A young man presents with an abdominal swelling. Lymph node biopsy showed "starry sky" appearance and median sized lymphocytes with cytoplasmic vacuoles.
1. What is the diagnosis? 2. What flow cytometry results supports the diagnosis? 3. What is the genetic defect? |
1. Burkitt Lymphoma(sporadic type)
2. +CD19, CD20, CD22, CD10, BCL-6 3. cMYC translocations: t(2,8), t(8,14), t(8,22). |
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A patient presents with a lump in his neck. Careful history reveals that he has been using injectable heroin. Biopsy shows "starry sky" appearance, median sized lymphocytes with cytoplasmic vacuoles.
1. What is the diagnosis? |
1. Burkitt lymphoma (immunodeficency-associated).
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A 67 y/o lady complains about bone pain. History showed several bone fractures in the past couple months. X-ray showed demineralization and several "punched out" lucent areas.
1. What is the diagnosis? 2. What will her bone marrow biopsy show? 3. What genetic defects are present? 4. What is her prognosis if her IL6 is elevated? |
1. Multiple myeloma
2. Bone marrow biopsy: infiltrating sheets of plasma cells. 3. 13q deletion, or 14(IgH) translocation. 4.poor prognosis(incurable): IL6 turns on osteoclasts which results in hyperclacemia. Elevated urine Igs will lead to renal failure. |
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A 55 y/o lady has elevated level of serum monoclonal protein (2.2gm/dl), no Bence-Jones proteins are present. Cytognetics showed deletion at 13q. The women is otherwise healthy.
1. What is the diagnosis? |
MGUS
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A 33 y/o male with rheumatoid arthritis presents with recurrent infection and fatigue. His spleen is mildly enlarged, no lymphadenopathy, no hepatomegaly. Peripheral blood smear shows large granular lymphocytes. He is otherwise healthy.
1. What is the diagnosis? 2. What will his CBC show? 3. What is the treatment? 4. This disease is a uderlying cause of what syndrome? |
1. T-cell large cell lymphocytic leukemia
2. CBC: neutropenia, anemia 3. indolent: can treat with corticosteroids if symptomatic. 4. Felty syndrome: rheumatoid arthritis, neutropenia, spleenomegaly. |
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A 40 y/o Japanese women presents with fever, skin lesions, generalized lymphadenopathy, nigh sweats, decreased appetite. Labs show hypercalcemia, peripheral blood lymphocytosis. Biopsy shows "clover leaf" or "flower" cells.
1. What is the diagnosis? 2. What is the cause? 3. What is the disease course? |
1. Adult T-cell leukemia
2. HTLV-1 infection which also causes demyelinating disease of CNS and spinal cord. 3. very aggressive disease, usually die within a year even with chemotherapy. |
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A patient presents with several skin plaques on the left extremity. Biopsy showed pautrier microabscesses and lymphocytes with cerebriform nuclei.
1. What is the diagnosis? 2. What will flow cytometry show? 3. What is the disease course? |
1. Mycosis fungoides
2. +CD2, CD3, CD4, CD5 - CD7, CD8 3. indolent: 8-9 yr course |
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A patients presents with generalized exfoliative erythroderma. Skin biopsy showed lymphocytes with cerebriform nuclei.
1. What is the diagnosis? 2. Will the skin lesion proceed to tumors? |
1. Sezary syndrome
2. rarely proceeds to tumors |
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A 20 y/o male presents with supraclavicular lymph node swelling. Biopsy showed lacunar cell and collagen bands.
1. What is the diagnosis? 2. What flow cytometry results can confirm? 3. What is the prognosis? 4. Is there viral involvment? |
1. Hodgkin Lyphoma: nocular sclerosis classical type
2. flow cytometry: +CD30, CD15 -CD20, CD45 3. excellent prognosis 4. EBV not involved |
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A elderly male came in with fatigue, night sweats, weight loss. You found enlarged nodes on both sides of the body. Biopsy showed Reed-sternburg cells and some mononuclear variant cells.
1. What is the diagnosis? 2. What flow cytometry result can confirm? 3. What is his prognosis? 4. Which virus is involved? |
1. Hodgkin Lymphoma (mixed cellularity classical type)
2. flow cytometry: +CD15, CD30 - CD20, CD45 3. good prognosis 4. EBV |
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A patient came in with 2 enlarged nodes on left cervical region. Biopsy showed reactive lymphocytes with some Reed-sternburg and monocyte variants. There is vague nodularity.
1. What is the diagnosis? 2. What flow cytometry result can confirm? 3. What is his prognosis? 4. Which virus is involved? |
1. Hodgkin lymphoma (lymphocyte rich classical type).
2. flow cytometry: +CD30, CD15 -CD20, CD45 3. good prognosis 4. EBV |
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A elderly male came in enlarged nodes on both sides of the body. Biopsy showed marked Reed-sternburg cells with scant lymphocytes.
1. What is the diagnosis? 2. What flow cytometry result can confirm? 3. What is his prognosis? 4. Which virus is involved? |
1. Hodgkin lymphoma (lymphocyte-depleted classical type)
2. flow cytometry: +CD30, CD15 -CD20, CD45 3. less favorable prognosis 4. EBV, HIV |
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A 34 y/o male came in with enlarged right axillary nodes. Biopsy showed small lymphocyte infiltrate and some histiocytes.
1. What is the diagnosis? 2. What flow cytometry result can confirm? 3. What is his prognosis? 4. Which virus is involved? |
1. Hodgkin lymphoma (lymphocyte predominant type)
2. flow cytometry: +CD15, CD30, CD20, BCL-6 3. good prognosis 4. no EBV |
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A 50 y/o women presents with fever, malaise, fatigue, sweats, and weight loss. CBC shows 25% basophils, 1% blast, 70% neutrophils. Cytogenetics show t(9,22).
1. What is the diagnosis? 2. What treatment should you use? |
1. CML: chronic phase (blast<2%, basophil>20%)
2. Gleevec: tyrosin kinase inhibitor. |
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A patient's bone marrow biopsy shows hypercellularity and marked reticulin fibrosis. Tear drop red cells are presnt. Her spleen and liver are enlarged.
1. What is the diagnosis? 2. What are some causes of mobidity in this patient? |
1. chronic idiopathic myelofibrosis fibrotic stage.
2. morbidity: - bone marrow failure: infections, hemorrhages - thromboembolic event - portal hypertension - cardiac failure - transform to AML |
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A patient has chronic tiredness, shortness of breath, easily bruised, frequent infections, enlarged liver and spleen. CBC shows 15% blasts. Blood smear shows presence of ringed sideroblasts, pseudo-pelger huet cells.
1. What is the diagnosis? 2. What are some genetic defects? 3. What is the prognosis? |
1. MDS
2. 5q del, 7q del, 20q del. 3. good prognosis in people with 5q del. |
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A mild anemic North European patient has enlarged spleen and some jaundice. Her labs show:
- elevated MCH, RDW, indirect bilirubin - decreased MCV, haptoglobin Blood smear showed microspherocytes. increased reticulocytes. 1. What is the diagnosis? 2. What is the pathogenesis of this disease? 3. What is the classical diagnostic test? 4. What is the treatment? |
1. HS: extravascular hemolysis
2. mutation in ankyrin causes loss of membrane -> splenic trapping and hemolysis 3. osmotic fragility test 4. Splenectomy |
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An 15 y/o African American male presents with pale skin and fatigue 2 days after pneumonia infection.
Labs: decreased Hct, haptoglobin. Morphology: bite cells, Heinz bodies. 1. What is the likely diagnosis? 2. Pathogenesis 3. Treatment |
1. G6PD
2. X-linked, misfolding of G6PD. G6PD reduces NADP to NADPH which reduces GSSH to GSH (able to reduce H2O2). Patients susceptible to oxidative stress. 3. splenectomy if severe. |
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An 15 y/o African American male with controlled malaria disease presents with pale skin and fatigue. She mentioned taking antimalarial drug 3 days ago.
Labs: decreased Hct, haptoglobin. Morphology: bite cells, Heinz bodies. 1. What is the likely diagnosis? 2. What food should he avoid taking? 3. What is the morphology of her RBCs? |
1. G6PD: X-linked
2. avoid fava beans 3. bite cells, heinz bodies |
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A 7 y/o African American boy with prominent cheek bones came in with painful swollen hands and feet. His spleen is palpable. Blood test showed decreased RBC, Hgb, poikilocytosis and anisocytosis.
1. What do you suspect he has? 2. What is a diagnostic test to confirm? 3. How to treat him? |
1. sickle cell anemia
2. Hgb electrophoresis 3. splenectomy or hyproxyurea |
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A young African American women complains about hematuria that is not painful. Blood smear looks normal. Family history showed sickle cell anemia in her mother.
1. What is the diagnosis? |
Sickle cell trait
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A 6 month old full term baby with prominant facial bones developed severe anemia. Blood smear showed nucleated RBC, microcytic, hyppchromasia. Labs show increase in Fe+, ferritin, and decrease in transferritin.
1. What is the likely diagnosis? 2. What diagnostic test can confirm? 3. How to treat it? |
1. beta-thalassemia major
2. Hb eletrophoresis: HbA2, HbF 3. blood transfusion and iron chelators. Cured by bone marrow transplant. |
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A 10 y/o boy presents with mild anemia. Blood smear showed mirocytic RBC and target cells. Labs showed normal Fe+, increased ferritin.
1. What is the diagnosis? |
beta-thalassemia minor or alpha-thalassemia trait
* to differentiate: Hb eletrophoresis. beta-thalassemia will show high HbA2 and HbF |
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A patient presents with blood in the urine (usually in the morning after he wakes up) without any sign of infection. He also complains about tiredness, shortness of breath and palpitations.CBC shows low RBC, Hct, Hb, and leukopenia, thrombocytopenia.
1. What is the diagnosis? 2. What is the pathogenesis? 3. How to treat? |
1. PNH
2. acquired mutation in PIGA gene, results in loss of GPI which is responsible for complement inactivation. 3. immunosuppression |
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A patient has just recovered from mono. He soon developed cyanosis and palor in his ears, fingers, and toes.
1. What is the likely diagnosis? 2. What is the underlying mechanism? 3. What test can make the diagnosis? |
1. acute cold agglutin immunohemolytic anemia.
2. IgM fixes complement in the periphery causing vascular obstruction. 3. Coombs test |
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A 75 y/o male presents with pale skin, glazed tongue, fatigue, symmetric parethesia and motor deficits. CBC showed low RBC, low WBC. Blood smear showed macrocytic, normochromatic cells.
1. What is the diagnosis? 2. How to figure out the underlying cause? |
1. B12 deficiency
2. use schilling test to confirm B12 deficiency. Serum anti-IF to identify pernicious anemia. |
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A 72 y/o female with chronic atropic gastritis presents with pale skin and fatigue. Gastric mucosa showed infiltrate of larged size leukocytes and plasma cells. Serum is postive for anti-IF.
1. What is the diagnosis? 2. What is the most likely type of anti-IF. |
1. Pernicious anemia
2. Type I: block IF from binding to B12. |
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A chronic alcoholic presents with pale skin, fatigue and ataxia. Serum tests show increased FIGLU, decreased RBC.
1. What is the cause of his anemia? 2. What will the blood smear show? |
1. folate deficiency
2. blood smear: - macrocytic,normochromic cells - low reticulocount |
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A post-menopausal women with thin hair looks pale and complains about fatigue, malaise, dyspnea on exertion. Her nails look brittle(koilonychia) and she craves for ice.
1. What is likely the diagnose? 2. What is the most likely cause? 3. What is the most important step next? 4. What will her labs show? |
1. iron deficient anemia
2. GI bleed 3. find the source of bleed 4. low Fe, ferritin, high transferrin. |
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A 30 y/o women has fatigue, malaise, dyspnea on exertion. Her labs show low Fe+, ferritin, but high transferrin.
1. What is the diagnosis? 2. What is the most likely cause? 3. How to treat it? |
1. iron deficiency anemia
2. menses 3. oral derrous sulfate |
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A 62 y/o male with rheumatoid arthritis come in with palor, fatigue,malaise. CBC showed low RBC. Blood smear showed normocytic, hypochromatic RBC. He has enlarged spleen.
1. What is the likely diagnose? 2. What will his lab value be for Fe, ferritin, and transferrin? 3. How to treat him? |
1. anemia of chronic illness
2. low Fe, high ferritin, low transferrin. 3. treat rheumatoid arthritis or give EPO. |
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A patients presents with anemia and esophageal web. His tongue is very small. Blood smear showed microcytic hypochromatic RBC.
1. What is the diagnosis? |
Plummer-Vinson syndrome
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A patient presents with pale skin, fatigue, gum bleeds, dyspnea, petechiae, and recurrent infections. CNC showed pancytopenia. Blood smear showeed normochromatic , slightly macrocytic RBC, no reticulocytosis. He has no spleenomegaly.
1. What is the diagnosis? 2. What will his bone marrow show? 3. This may evolve to what disease? |
1. aplastic anemia
2. hypocellular bone marrow, fat cells, fibrous stroma 3. may evolve into AML or ALL. |
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A patient presents with thrombocytopneia, microangiopathic hemolytic anemia.
1. What should you consider first? 2. What should you treat if your suspicion is true? |
1. TTP
2. plasma exchage to supply missing enzyme (ADANTS13) |
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A children presents had bloody diarrhea and shiga-like toxin was detected. Yes, he had E. coli O157:H7 and was aggressively treated. Several days later he developed thrombocytopenia, microagiopathic hemolytic anemia, and acute renal failure.
1. What is the diagnosis? 2. What is the pathogenesis? |
1. HUS
2. shiga-like toxin damages endothelial cells -> initiate paltelet activation and aggregation |
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A 40 y/o women presents with excessive mentral flow and petechiae on her skin. She has low platelet count and blood smear showed abnormal large platelets (megathrombocytes). TT is prolonged, but PT and PTT are normal.
1. What is the diagnosis? 2. What is the pathogenesis? 3. How to treat her? |
1. ITP after ruling out other causes.
2. IgG antibodies against GPIIa/IIIb and GPIa/IX. 3. can use glucocorticoids first, but may need splenectomy eventually. |
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A child presents with several pupura on the skin. History showed viral infection 2 weeks ago. He has low platelet ocunt, long TT, but normal PT and PTT.
1. What is the diagnosis? 2. How to treat it? |
1. Acute ITP
2. steroid only if symptoms are severe. Usually resolve spontaneuously within 6 months. |
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A patient is being treated with heparin. Paradoxically, he developed several venous clots. Lab showed thrombocytopenia, long TT, normal PT and PTT.
1. What is the diagnosis? 2. What should you do and why? 3. When did the heparin start? 4. What is the pathogenesis? |
1. HIT
2. Stop heparin immediately because life threatening arterial thrombosis may result. 3. 5-14 days ago 4. antibody developed agianst heparin-platelet factor 4 complex -> paltelet activation -> aggregation -> thrombosis |
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A 24 y/o female presents to ER with spontaneous mouth bleed. Because of the gender and lack of family history, you suspect vWD. Labs show prolonged TT and PTT. Before you order test for her vWF level, you saw she had normal level of vWF last week.
1. If the result came back with low vWF. How to explain the previous normal vWF level? 2. What type of vWD does she have? 3. How to treat her? |
1. He might be under a lot stress at that time which transiently raises the vWF level.
2. Type I (most common type) 3. DDAPP |
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A 20 y/o male bleeds easily, about one spontansous incident every week, usually in his joints and GI tract. Family history showed similar condition in his maternal grandfather.
1. What is the likely diagnosis? |
1. severe hemophilia <1% factor activity
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A young male presents with hemmorrhage in his knee. He said this happens about 4-6 times a year. His maternal uncle has similar condition.
1. What is the diagnosis? 2. How to treat him? |
1. moderate hemophilia: 1-5% factor level
2. DDAVP |
