Neoplasia/Hematology

Question 1

What eye finding is seen in some patients with Wilms tumor?

Answer 1

Aniridia

Question 2

What tumor may be associated with hemihypertrophy and aniridia?

Answer 2

Wilms tumor - associated with an anomaly of chromosome 11 when these are found together

Question 3

What is the x-ray buzz word for osteosarcoma?

Answer 3

“Sunburst pattern” and “Codman triangle” (periosteal elevation)

Question 4

What is the x-ray buzz word for Ewing sarcoma?

Answer 4

“Onion-skin” appearance, often later followed by a “moth-eaten” appearance

Question 5

What is the defect in Fanconi anemia?

Answer 5

Depending on the defect, it is a AR or X-linked disorder that results in problems with DNA repair leading to chromosomal breaks

Question 6

What are the clinical manifestations of Fanconi anemia?

Answer 6

Aplastic anemia, progressive bone marrow failure, short stature, microcephaly, abnormal thumbs, horseshoe kidneys, hypogonadism, hypo/hyperpigmented areas of skin, café au lait spots, strabismus, low-set ears, middle ear abnormalities (e.g. chronic infections, deafness), and macrocytic anemia. The initial manifestation is usually thrombocytopenia, followed by neutropenia, then anemia

Question 7

How is Fanconi anemia treated?

Answer 7

Hematopoietic stem cell transplantation

Question 8

How do medullobastomas present?

Answer 8

They are infratentorial tumors typically arising from the cerebellar vermis, so they present with vomiting, headaches, and ataxia

Question 9

Greater than what percentage lymphoblasts confirms the diagnosis of leukemia?

Answer 9

> 25%

Question 10

What is Diamond-Blackfan anemia?

Answer 10

Presents in the first 3 months of life with pallor and poor feeding due to this congenital pure red cell aplasia. CBC reveals a normocytic or macrocytic anemia with reticulocytopenia. Infants may have dysmorphic features such as a triphalangeal thumb

Question 11

What is the genetic defect seen in cancer cells in Ewing sarcoma?

Answer 11

t(11;22)

Question 12

What bone cancer is associated with retinoblastoma?

Answer 12

Osteosarcoma

Question 13

What is Bart’s hemoglobin?

Answer 13

When fetal gamma globin chains tetramerize and form Bart’s hemoglobin (γ4) instead of HbF (α2,γ2). Seen in newborn infants with HbH disease (Four to six weeks after birth, beta globin production reaches a level that is sufficiently high to cause beta globin tetramerization and HbH (β4) ).