Trisomy21, Congenital AL, Mastocytosis Flashcards
What is the risk (%) of acute leukemia in Downs? (2)
- ALL (50%)
- AML (50%)
DS-Associated ALL vs non-DS ALL. (1)
Similar
DS-Associated AML:
- Prognosis
- Response to Therapy (best treatment)
Favorable Prognosis
-Chemosensitive (Methotrexate)
DS-Associated AML:
- Blasts morphology
- Onset
- Megakaryoblastic Differentiation
- 1-5 y/o (peaks)
DS-Associated AML - Blast IHC:
- Positive for (2)
- Negative for (1)
Positive:
- CD11b
- CD13
Negative:
-CD34
This occurs in the 1st week of life in 10% of neonates with Down Syndrome. The clinical findings include; Marked Leukocytosis and Hepatosplenomegaly. The Blasts are Negative for CD11b and CD13, however they are Positive for CD34.
Transient Myeloproliferative Disorder (TMD)/Transient Abnormal Myelopoiesis (TAM)
What mutations are seen in the blasts of both Transient Myeloproliferative Disorder (TMD) and DS-Associated AML?
GATA1 gene (Somatic mutations)
Arbitrary definition of Congenital Acute Leukemia.
Acute Leukemia presenting before 4 weeks old.
Congenital Acute Leukemia must be distinguished from what? (2)
*Methods
- Leukemoid Reactions
- Transient Myeloproliferative Disorder (TMD)
*FISH/Cytogenetics
Congenital Acute Leukemia is most commonly what type of AL?
Myeloblastic (AML) - 65%
-Monocytic/Monoblastic (vast majority)
Congenital Acute Leukemia Characteristic Presentation.
Leukemia Cutis
-“Blueberry Muffin” Babies
Most common (10%) genetic abnormality in Congenital Acute Leukemia?
MLL gene 11q23
Systemic Mastocytosis is a multifocal disease that may involve what organs? (4)
- Skin
- Spleen
- Bone Marrow
- GI tract
Laboratory findings in Systemic Mastocytosis:
- Serum Tryptase (High)
- Urine N-methylhistamine
- Urine Prostaglandin D2
*Histamine levels are elevated but nonspecific
What other conditions can increase histamine levels?
Hypereosinophilc states
