Q:

What genetic aberration has been reported as a marker to determine the clonal relationship of primary mediastinal germ cell tumor and hematologic malignancies?

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A 1 9-year-old male patien t who is in rem ission after receivi ng LJ cycles of BEP chemo-therapy for primary mediastinal yolk sac germ cel l tumor presen ts with fatigue 3 mon ths after his last cycle. Laboratory evaluation shows leukocyte count of LJ3.500/JLL. hemoglobin 7.6 g/dl. and platelet count 7.000/JLL. The peripheral blood smear is shown below. Flow cytometry of the peripheral blood cells express CD 1 3 . CD3 3. CDLJ 1. and CD6 1 .

What genetic aberration has been reported as a marker to determine the clonal relationship of primary mediastinal germ cell tumor and hematologic malignancies?


  1. Deletion l lq23
  2. Monosomy 7
  3. Inv(l 6)
  4. Isochromosome 12p

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D. Although study numbers are small, multiple cases have reported isochromosome 12p in patients with hematologic malignancy and primary mediastinal nonseminaotous germ cell tumors. Isochromosome 12p has been detected in both the mediastinal tumor and underlying leukemia in the same patient, lending support to this hypothesis. This may be related to the fact that malignant germ cells have multipotential differentiation. Deletion 11 q23 and monosomy 7 are aberrations seen in ther-apy-related disorders. Inv( 1 6) is associated with favorable risk AML (!Nat! Cancer Inst. 1990;82( 3) :221).

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