Q:

What is the most common cytogenetic abnormality detected in CLL?

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A 7 LJ-year-old male with no sign i ficant medical history is referred by h is primary care physician For Further evaluation of generalized lymphadenopathy. Patient reports no preceding weigh t loss. n igh t sweats. or Fever. On physical examination. lymphade-nopathy and splenomegaly are Found. with the spleen edge pal pable 7 em below the left costal margi n. Laboratory workup reveals a total leu kocyte count of 36.500/pl. with the majority of cells of the type shown below. hemoglobin 1 LJ.S g/dl and a plate-let count of 3LJ2 .000/ pl.

What is the most common cytogenetic abnormality detected in CLL?


  1. 17p deletion
  2. 11q deletion
  3. Trisomy 12
  4. 13q deletion
  5. 6q

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D. Chromosomal abnormalities are detected in 82% of CLL cases. Deletion 13q is seen in 45% to 55% of cases, deletion 1 1q in 18% to 20%, trisomy 12 in 1 5% to 1 6%, deletion 6q in 7%, and deletion 17p in 7% to 10% of de novo CLL cases (N Eng! J Med. 2000;343(26):1910, Blood. 1997;89(7):25 16). In addition, SF3B1 and other novel cancer genes have been reported in CLL. SF3B1 has been noted primar-ily with deletion 1 1q cases and is associated with a poor prognosis (N Eng! J Med. 201 1;365:2497-2506).

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