Stem Cell Transplant and Marrow Failure Syndomes

Question 1

Which is better match: 10/10 MUD or 9/10 MSD

Answer 1

MSD is better because there are less difference in minor histocompatibility peptides and therefore less GVHD

Question 2

What is Major RBC incompatability?
Donor:_______
Recipient:_______
Outcome:_______

Answer 2

Recipient has antibodies to donor RBCs 
Recipient: 0, Donor: A, B, AB
Recipient: AB, Donor: A, B
Ourtome: 
• Acute hemolytic episode
• Delayed RBC engraftment
• Pure red blood cell aplasia
• Delayed granulocyte and platelet engraftment

Question 3

What is Minor RBC Incompatability?
Recipient:
Donor:
Outcomes:

Answer 3

Recipient: A,B Donor: O
Recipient: AB Donor: A, B, O
Outcomes:
• Acute hemolytic episode
• Delayed hemolysis secondary to passenger lymphocyte syndrome

Question 4

What is Bidirectional RBC Incompatability?
Recipient:
Donor:
Outcomes:

Answer 4

Recipient: A, Donor: B
Recipient: B, Donor: A
Combination of major and minor effects:
• Acute hemolytic episode
• Delayed hemolysis secondary to passenger lymphocyte syndrome
• Delayed RBC engraftment
• Pure red blood cell aplasia
• Delayed granulocyte and platelet engraftment

Question 5

Why do you filter blood transfusions for HSCT recipients?

Answer 5

To reduce HLA Alloimmunization to donor antigens and minimize CMV transmission

Question 6

What is passenger lymphocyte syndrome?

How do you differentiate it from TMA?

Answer 6

• Abrupt red cell hemolysis 7-14 days after transplant from mature, competent lymphocytes being transfused with blood products
• Pos. DAT in PLH and negative in TMA

Question 7

Who gets CMV Reactivation, + donor or + recipient

Answer 7

+ recipient, - donor. Most common in the 100 days post transplant

Question 8

Medicines associated with post transplant TMA

Answer 8

Cyclosporine or tacrolimus

Does not respond to PLEX, need to stop CSA or Tacro

Question 9

How do you tell Post umbilical cord diarrhea syndrome vs. acute GI GVHD?

Answer 9

Post-Umbilical- Biopsy shows granulomatous inflammation

GI GVHD- Biopsy shows apoptosis

Question 10

2 month old presents with microcephaly, cleft palate, hypoplastic thumb, short stature, and isolated hypoproliferative anemia. No hemolysis. Reticulocytopenia. Marrow shows reduction in immature proerythroblasts.
Diagnosis:
Gene Mutation:

Answer 10

Diamond Blackfan Anemia
RPS19 gene (impared robosome production

Question 11

Treatment of Diamond Blackfan Anemia

Answer 11

Steroids and transfusions. Avoid steroids until >1 yr old

AlloSCT can be curative

Question 12

16 yo male with short stature, underdeveloped thumbs and patchy hypopigmentation presents with pancytopenia
Diagnosis:
Diagnostic Test:

Answer 12

Fanconi Anemia (physical abnormalities are not 100%)
Testing: Increased frequency of chromosome breakage with DEB of MMC.  If peripheral blood negative, test skin fibroblasts.

Question 13

Treatment of Fanconi Anemia

Answer 13

Steroids or androgens
RIC alloSCT (increased risk for GVH post transplant)

Question 14

16 yo boy presents with hypoplastic fingers, sensorineural deafness, anemia, splenomegaly and hyperbilirubinemia/hyperferritinemia with LOW retic count
Diagnosis:

Answer 14

Congenital Dyserythropoietic Anemia

Question 15

Mutation present in CDA II (HEMPAS)

Answer 15

SEC23B gene

Question 16

Abnormal Gene in CDA I

Answer 16

CDAN-1

Question 17

Eczema-Thrombocytopenia-Immunodeficiency Syndrome
Other name->
Mutation->

Answer 17

Wiskott-Aldrich Syndrome

WAS gene

Question 18

What blood product modifications must be made in someone with Aplastic Anemia (2)

Answer 18

Irradiated (reduced GVH)
Leukocyte Depleted (reduce alloimmunization and CMV transfer)

Question 19

16 yo boy presents with reticular skin rash, atrophic nails, and dry eyes presents with pancytopenia. Family history of lung disease.
Diagnosis:
Mutations (2):

Answer 19

Dyskeratosis Congenita
DKC1 gene (responsible for telomere maintenance)
TERC Gene (RNA component of telomerase)