Translocations and Epigenomic mutations, paraneoplastic syndromes Flashcards

1
Q

Chronic myelogenous leukemia

A

t(9;22)(q34;q11)

Philadelphia chromosome

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2
Q

Acute myeloid leukemia

A

(8;21) (q22;q22)

15;17) (q22;q21

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3
Q

Burkitt lymphoma

A

(8;14)(q24;q32)

MYC

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4
Q

Mantle cell lymphoma

A

(11;14)(q13:q32)

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5
Q

Follicular lymphoma

A

(14;18)(q32;q21)

BCL2
Anti-apoptosis

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6
Q

DNMT3A

A

DNA methylation

20% of acute myeloid leukemia

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7
Q

MLL1

A

Histone methylation

90% of acute leukemia in infants

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8
Q

MLL2

A

Histone methylation

90% of Follicular lymphoma

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9
Q

CREBBP/EP300

A

Histone acetylation

40% of Diffuse large B cell lymphoma

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10
Q

ARID1A

A

Nucleosome positioning / chromatin remodeling

60% of ovarian clear cell carcinoma
40% of endometrial carcinoma

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11
Q

SNF5

A

Nucleosome positioning / chromatin remodeling

All malignant rhabdoid tumors

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12
Q

PBRM1

A

Nucleosome positioning / chromatin remodeling

30% of renal carcinoma

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13
Q

WAGR Syndrome

A

del (11p13)

WT1 and PAX6

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14
Q

Beckwith-Weidemann syndrome

A

Genomic imprinting 11p15.5

WT2 and IGF2

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15
Q

Cushing

A

Small cell carcinoma of lung, pancreatic carcinoma, neural tumors

Via ACTH or ACTH-like substance

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16
Q

Hypercalcemia

A

Squamous cell carcinoma of lung, breast, renal, leukemia

17
Q

Hypoglycemia

A

Ovarian carcinoma, fibrosarcoma

Via insulin or insulin-like substance

18
Q

Polycythemia

A

Renal carcinoma, cerebellum hemangioma, hepatocellular carcinoma

Via EPO

19
Q

Acanthosis Nigricans

A

Gastric carcinoma, lung or uterine carcinoma

MOA: immuno or secretion of EGF