Translocations and Epigenomic mutations, paraneoplastic syndromes Flashcards
Chronic myelogenous leukemia
t(9;22)(q34;q11)
Philadelphia chromosome
Acute myeloid leukemia
(8;21) (q22;q22)
15;17) (q22;q21
Burkitt lymphoma
(8;14)(q24;q32)
MYC
Mantle cell lymphoma
(11;14)(q13:q32)
Follicular lymphoma
(14;18)(q32;q21)
BCL2
Anti-apoptosis
DNMT3A
DNA methylation
20% of acute myeloid leukemia
MLL1
Histone methylation
90% of acute leukemia in infants
MLL2
Histone methylation
90% of Follicular lymphoma
CREBBP/EP300
Histone acetylation
40% of Diffuse large B cell lymphoma
ARID1A
Nucleosome positioning / chromatin remodeling
60% of ovarian clear cell carcinoma
40% of endometrial carcinoma
SNF5
Nucleosome positioning / chromatin remodeling
All malignant rhabdoid tumors
PBRM1
Nucleosome positioning / chromatin remodeling
30% of renal carcinoma
WAGR Syndrome
del (11p13)
WT1 and PAX6
Beckwith-Weidemann syndrome
Genomic imprinting 11p15.5
WT2 and IGF2
Cushing
Small cell carcinoma of lung, pancreatic carcinoma, neural tumors
Via ACTH or ACTH-like substance