Benign & Malignant Hematology Flashcards

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1
Q

t(15;17)

A

PML/RARA-alpha fusion protein

Diagnostic for APML

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2
Q

Passenger Lymphocyte Syndrome

A

B-lymphocytes from donor (often female) form antibodies that can attack the recipient’s RBCs

  • can occur several days-weeks after allo-SCT
  • Ex: Donor is blood group Group O Rh+ and Recipient is Group A Rh+; B-lymphocytes from donor make anti-A Abs against recipient’s RBCs resulting in hemolytic anemia
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3
Q

Hereditary Elliptocytosis

A

Hereditary defect in RBC membrane protein and RBC cytoskeleton (alpha-spectrin) that predisposes to hemolytic anemia

  • Tx: Folic acid 1mg QD, transfusions PRN and splenectomy for select transfusion-dependent pta
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4
Q

Most likely mutation conferring resistance to Ibrutinib in patient with Stage IV CLL with +del 17p?

A

C481S mutation

  • Ibrutinib is a BTK inhibitor that irreversibly covalently binds to C481 of the kinase; C481S mutation disrupts this binding and results in resistance to Ibrutinib
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5
Q

Large Granular Lymphocyte (LGL) Leukemia

A
  • Clonal disorder of CD3+ cytotoxic T-cells or NK-cells (natural killer cells)
  • Immunophenotype:
    T-LGL: CD3+, CD8+, CD57+
    NK-LGL: CD3(-), CD8+, CD57+
  • Clinically p/w anemia, neutropenia and often asst’d with rheumatoid arthritis
  • Dx: +TCR-gamma gene rearrangement detected on PCR
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6
Q

Felty’s Syndrome

A

Triad:

  1. Rheumatoid arthritis
  2. Splenomegaly
  3. Neutropenia
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7
Q

CP CML Risk Stratification

A
Sokal Risk:
Age
SM present
Plts
Blast %
Hasford Risk:
Age
SM present
Plts
Blast %
Basophils
Eosinophils
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8
Q

t(9;22)

A

BCR/ABL1 fusion gene = activated tyrosine kinase

  • 5% of CML pts lack Philadelphia chromosome despite being positive for BCR/ABL rearrangement; most of these pts were found to have cryptic insertions between chrom 9 and 22 on FISH and were responsive to TKI therapy
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9
Q

Triad of IDA, esophageal webs and glossitis/angular cheilosis.

A

Plummer-Vinson Syndrome

Pts are at increased risk for SCC of esophagus and pharynx

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