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High yield! Flashcards

1
Q

t(12;21)

A

B-ALL: ETV6 (12) and RUNX1 (21) translocation (aka. TEL-AML1)
Accounts for 25% of all B-ALL and associated with a good prognosis

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2
Q

t(9;22)

A

B-ALL and CML: BCR (22) and ABL1 (9) translocation
* Historically dismal outcomes in B-ALL. Intermediate outcomes with TKIs
* Defining lesion of CML
* Of note, t(9;22) can also refer to the translocation of extraskeletal myxoid chondrosarcoma that brings together EWS (22) and CHN (9)

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3
Q

11q23 fusions

A

Infantile ALL and AML commonly M4/M5: KMT2A (11; aka. MLL)
Numerous different fusion partners

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4
Q

t(8;14)

A

Burkitt’s lymphoma/leukemia: cMYC (8) and IGH (14) translocation
* Found in 80% of Burkitt’s lymphoma
* Other translocations with the κ light (2) or λ light chain promoter (22) also occur but are less common

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5
Q

t(8;21)

A

AML M2: RUNX1 (21) and RUNX1T1 (8) translocation (aka. AML1-ETO)
* Core Binding Factor-related AML
Found most commonly in FAB M2 (AML with maturation)

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6
Q

inv(16)

A

AML M4eo: Inversion leads to fusion of CBFB (16) and MYH11 (16)
* Core Binding Factor-related AML
Found most commonly in FAB M4eo (AML with eosinophilia)

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7
Q

t(15;17)

A

AML M3: PML (15) and RARa (17) translocation

Associated with AML M3 (APML)

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8
Q

t(1;13)

A

ARMS: PAX7 (1) and FOXO1 (13; aka. FKHR) translocation

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9
Q

t(2;13)

A

ARMS: PAX3 (2) and FOXO1 (13; aka. FKHR) translocation

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10
Q

t(11;22)

A

Ewing sarcoma: EWS (22) and FLI1 (11)
* In Ewing sarcoma, EWS can have other fusion partners such as ERG (21), ETV1 (7),
etc.
* EWS-FLI1 is also found in other Ewing Sarcoma Family of tumors including
peripheral PNET (ETV1 [7]) and DSRCT (WT1 [11])

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11
Q

GATA1

A

Down Syndrome-related AMKL and TAM: Found in almost all patients with
mutation almost always in Exon 2
* Arises in the fetal liver and is present in both AMKL and TAM
* Second hit mutation required to progress from TAM to AMKL

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12
Q

JMML:

A

NF1
NRAS
KRAS
PTPN11
CBL

NF! JMML: Found in 90%
* Activating germline or somatic mutations in the RAS pathway
* Possible spontaneous resolution with Noonan’s syndrome (germline PTPN11)

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13
Q

BRAFV600E

A

LCH: Found in 60%
* Some pilocytic astrocytomas: Found in 15% (most have BRAF-KIAA1549 fusion)
* Pleomorphic Xanthoastrocytoma: Found in 60%
* Melanoma: Found in 45%
* Papillary thyroid carcinoma (other adult cancers)

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14
Q

H3K27M
mutation

A

DIPG: Found in 80%
* Same mutation also seen in other midline gliomas

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15
Q

MYCN

A
  • Neuroblastoma: Found in 20%, most common amplification
  • High-risk feature
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16
Q

SMARCB1

A

Rhabdoid tumors (including ATRT): Loss of SMARCB1 (aka INI1)
* Schwannomatosis

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17
Q

WT1

A

Sporadic Wilms tumor
* WAGR: Wilms tumor, aniridia, genitourinary malformations, developmental delay
* Denys-Drash syndrome

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18
Q

FAS
FASL
CASP10

A

ALPS: Diagnosis requires >6 months lymphadenopathy or splenomegaly with
increased double-negative T cells, and one primary accessory criterion (defective
lymphocyte apoptosis or characteristic mutation)
* Probable ALPS: No primary but one secondary accessory criterion (1. Elevated
plasma FASL, or IL-10, or IL-18, or vitamin B12 levels; 2. Consistent
immunohistology; 3. Autoimmune cytopenias AND elevated IgG; 4. Family history
of lymphoproliferation)

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19
Q

gp47phox

A

CGD: Found in 25%, autosomal recessive
* gp22phox and gp67phox each account for 5%
* Defects in phagocyte NADPH oxidase leading to immunodeficiency

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20
Q

gp91phox

A

CGD: Found in 70%, X-linked
* Defects in phagocyte NADPH oxidase leading to immunodeficiency

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21
Q

Familial HLH

A

Most common mutations affect the perforin pathway (PRF1,
UNC13D, STX11, STXBP2)
* Elevated risk of HLH: Griscelli syndrome (RAB27A), Hermansky-Pudlack
syndrome (AP3B1), XLPS (SH2D1A or XIAP), XMEN syndrome (MAGT1)

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22
Q

PIGA

A

PNH: Somatic mutations lead to the deficiency of CD55/59
* Lack of CD55/59 on RBCs allows complement (C3) to activate the alternative
pathway and mediate hemolysis
* Elevated risk of thrombosis (mechanism unclear)

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23
Q

11p15
abnormalities

A

BWS: Methylation defects or uniparental disomy of 11p15
* 10% lifetime risk of several cancers, including 1. Wilms tumor (43%); 2.
Hepatoblastoma (20%); 3. Adrenal cortical carcinoma (7%); 4. Neuroblastoma; 5.
RMS

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24
Q

DICER1

A

DICER1 syndrome: Mutations in DICER1 disrupt the processing of miRNAs and
predispose to several different types of cancers: 1. PPB; 2. Thyroid/multinodular
goiter; 3. Cystic nephroma; 4. Botryoid RMS; 5. Sertoli-Leydig sex cord-stromal
tumors; 6. Ciliary body medulloepithelioma

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25
RB1
Inherited Retinoblastoma: Associated with several other cancers: 1. Osteosarcoma (25-40%; radiation!); 2. Pineoblastoma (trilateral retinoblastoma); 3. Soft tissue sarcomas (10-15%; leiomyosarcoma > fibrosarcoma > NRSTS > RMS); 4. Melanoma (15-20%)
26
TP53
Li-Fraumeni syndrome: Very high risk of cancer during a lifetime, including 1. Sarcomas (soft tissue and osteosarcoma); 2. Malignant glioma; 3. Low-hypodiploid ALL (31-39 chromosomes); 4. Choroid plexus carcinoma; 5. Adrenocortical carcinoma
27
TSC1/TSC2
Tuberous sclerosis: Mutations in TSC1/2 * Hypopigmented lesions ("ash-leaf" macules), facial angiofibromas, benign hamartomas ("tubers") throughout the body, subependymal giant cell astrocytomas (MTOR inhibitor), renal cell carcinoma.
28
del(5q)
* MDS/AML: Deletion of 5q * Can be seen at the initial presentation in AML with MDS-related changes * Therapy-related AML: After exposure to alkylating agents or radiation
29
del(7q)
* MDS/AML: Deletion of 7q * Can be seen at the initial presentation in AML with MDS-related changes * Therapy-related AML: After exposure to alkylating agents or radiation
30
del(X) del(Y)
* Ph-like ALL: This deletion creates a P2RY8-CRLF2 fusion and upregulates CRLF2 * More common in Hispanic adolescents * Of note, CRLF2 is located on both the X and Y chromosome in homologous pseudo- autosomal regions (PARs)
31
iAMP(21)
B-ALL: Internal amplification of chromosome 21 leading to ≥3 copies of RUNX1 * Accounts for <2% of B-ALL * Associated with worse outcomes
32
t(1;19)
B-ALL: TCF3 (19) and PBX1 (1) translocation (aka. E2A-PBX1) * Accounts for 5% of B-ALL * Historically associated with poor prognosis, but now intermediate outcomes on modern protocols with intensified chemotherapy
33
t(1;22)
AMKL: RBM15 (1; aka. OTT) and MKL1 (22) translocation * Account for 10% of non-Down syndrome AMKL
34
t(10;11)
AML: KMT2A (11q23) and AF10 (10) * Mostly seen in AML FAB M4/M5 (myelomonocytic/monocytic)
35
t(11;14)
T-ALL: TCRA/TCRD (14) and LMO2 (11) translocation
36
t(11;19)
ALL/AML: KMT2A (11q23) and ENL (19) translocation * Accounts for 20% of ALL and AML FAB M4/M5 (myelomonocytic/monocytic)
37
t(14;18)
Account for >90% of adult follicular lymphoma and 30% of adult DLBCL * Virtually absent in pediatric follicular lymphoma and DLBCL
38
t(2;5)
ALCL: ALK (2) and NPM1 (5) translocation * Accounts for 75% of ALK-positive ALCLs (~75%); variant translocations involving ALK and other partner genes on chromosomes 1,2, 3, 17, 19, 22, and X also occur.
39
t(2;8)
Burkitt's lymphoma/leukemia: cMYC (8) and κ light chain promotor (2) alternate translocation
40
t(4;11)
* Infantile ALL: KMT2A (11q23) and AF4 (4) translocation * Accounts for 70% of KMT2A-rearranged infantile ALL
41
t(8;22)
Burkitt's lymphoma/leukemia: cMYC (8) and λ light chain promoter (22) alternate translocation
42
t(9;11)
Infantile ALL: KMT2A (11q23) and AF9 (9) * More common in AML FAB M4/M5 (30%) than ALL (10%)
43
t(Y;14) t(X;14)
Ph-like ALL: IGH (14) and CRLF2 (X/Y) translocation leads to upregulation of CRLF2 * More common in Hispanic adolescents * Of note, CRLF2 is located on both the X and Y chromosome in homologous pseudo- autosomal regions (PARs)
44
i(12p)
Germ cell tumors: Gain of the short arm of chromosome 12, most commonly as an isochromosome 12p[i(12p)]
45
RELA fusion
Subtype of supratentorial ependymoma * Associated with a poor prognosis
46
Supernumerary ring chromosome 12q13-15
Parosteal osteosarcoma: A low-grade form of osteosarcoma that is treated with resection alone
47
t(12;15)
Congenital fibrosarcoma and mesoblastic nephroma: ETV6 (12) and NTRK3 (15) translocation * Very sensitive to NTRK inhibition (LOXO-101, aka. Larotrectinib) * Can also use VAC chemotherapy * Of note, the same translocation also found in secretory breast carcinoma
48
t(X;17)
Alveolar soft part sarcoma: ASPL (17) and TFE3 (X). translocation * The slow-growing, indolent tumor usually presenting in the leg or buttock * Poorly responsive to chemotherapy and poor outcomes with late relapses * Some RCC
49
t(X;18)
* Synovial Sarcoma: SSX1/2 (X) and SYT (18) translocation * Most common NRSTS * Arises from deep soft tissues of the extremities (doesn't have anything to do with the synovium) * Chemo-sensitive with an objective response rate of 56%
50
T315I
BCR-ABL CML: Mutation conferring TKI resistance in CML patients * Sensitive to Ponatinib (a 3rd generation TKI)
51
11q-
Neuroblastoma: Associated with TERT rearrangement and ATRX mutations * Present in 30 to 40% of patients
52
ALK
Sporadic and familial neuroblastoma: Activating mutations or amplification * ALCL: Translocation t(2;5) * Inflammatory myofibroblastic tumor: 50% with ALK rearrangements
53
ATRX
Neuroblastoma: In-frame deletions in ATRX * Patients typically present at an older age and a have a protracted course
54
CTNNB1
Hepatoblastoma: 90% of cases * Hepatocellular carcinoma: 17-40% of cases * Desmoid tumor: 85% of cases * WNT subtype of medulloblastoma: 10% of cases
55
LOH 16q
Wilms tumor: Marker of worse outcome
56
LOH 1p
Wilms tumor: LOH of 1p is a marker of worse outcome * Neuroblastoma: Associated with MYCN amplification, found in 30%
57
PHOX2B
Neuroblastoma: Loss-of-function germline mutations * Associated with Hirschsprung disease and central hypoventilation
58
TERT
Neuroblastoma: Activating rearrangements in 13% of patients * Dyskeratosis congenita: Telomeropathy
59
ELA2 (ELANE)
Severe congenital neutropenia: Autosomal dominant mutations, apoptosis of myeloid precursors with maturational arrest * Cyclic neutropenia: Recurrent neutropenia (typically 21±4-day cycles)
60
HAX1
* Kostmann syndrome: Subtype of severe congenital neutropenia * Associated with neurological dysfunction
61
Mitochondrial DNA mutations
* Pearson syndrome: Bone marrow failure syndrome * Associated with either neutropenia or anemia and pancreatic insufficiency * Vacuolization of erythroid and myeloid precursors and ring sideroblasts in the bone marrow
62
MPL
* CAMT
63
SBDS
Schwachman-Diamond syndrome
64
13q-
* 13q deletion syndrome: Associated with severe developmental delay, multiple birth defects, and predisposition to retinoblastoma (RB is located on 13q)
65
APC
* Familial adenomatous polyposis (FAP) * Gardner subtype: Desmoid tumors, congenital hypertrophy of retinal pigment epithelium, osteomas * Turcot subtype: Medulloblastoma

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