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PHOT Boards 2023 > Cancer Predisposition Syndromes > Flashcards

Cancer Predisposition Syndromes Flashcards

1
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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2
Q

DICER1

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

RB1

A
  • Inherited Retinoblastoma: Associated with:
    1. Osteosarcoma
    (25-40%; radiation!)
    2. Pineoblastoma (trilateral retinoblastoma)
    3. Soft tissue sarcomas
    (10-15%; leiomyosarcoma > fibrosarcoma > NRSTS > RMS)
    4. Melanoma
    (15-20%)
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4
Q

TP53

A
  • Li-Fraumeni syndrome: Very high risk of cancer:
    1. Sarcomas (soft tissue and osteosarcoma)
    2. Malignant glioma
    3. Low-hypodiploid ALL (31-39 chromosomes)
    4. Choroid plexus carcinoma
    5. Adrenocortical carcinoma
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5
Q

TSC1/TSC2

A
  • 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.
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6
Q

ATM

A
  • Ataxia-telangiectasia syndrome: ATM is vital in DNA repair
  • Characterized by:
    1. Ataxia and chorea when young
    2. Telangiectasia later in life
    3. Immunodeficiency and infections
    4. Risk of developing leukemia and lymphoma
    5. Sensitivity to ionizing radiation
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7
Q

PTCH1

A
  • Gorlin syndrome: Aka. nevoid basal cell carcinoma syndrome
  • Associated with:
    1. Basal cell carcinoma
    2. 2. Benign jaw tumors (keratocystic odontogenic tumors)
    3. An increased incidence of medulloblastoma (SHH subtype, as PTCH1 is in the SHH pathway)
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8
Q

PTEN
KLLN
SDHB
SDHD

A
  • Cowden syndrome: Characterized by
    1. Benign hamartomas
    2. Predisposition to breast and endometrial cancer (85%)
    3. Thyroid cancer (35%)
    4. Papillary RCC (35%)
  • Most common mutations in PTEN
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9
Q

PTPN11
SOS1
RAF1
RIT1

A
  • Noonan syndrome: Affect the RAS/MAPK pathway
  • Characterized by
    1. Facial dysmorphism
    2. Short stature
    3. Congenital heart disease (e.g., pulmonary stenosis)
    4. Increased risk of JMML, neuroblastoma, and ERMS
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10
Q

RECQL4

A
  • Rothmund-Thomson syndrome: Biallelic mutations
  • Significant predispo to osteosarcoma (30% incidence)
  • Associated with facial/extremity rash in infancy, sparse scalp hair, juvenile-onset cataracts, musculoskeletal defects
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11
Q

RET2

A
  • Multiple endocrine neoplasia type 2 (MEN2): Both type 2A and 2B have an increased risk of medullary thyroid carcinoma and pheochromocytoma
  • MEN 2A also involves an increased risk for parathyroid adenoma
  • MEN 2B is associated with mucosal neuromas and a marfanoid habitus
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12
Q

RUNX1 (AML1)

A
  • Familial platelet disorder with predisposition to AML: Have qualitative and quantitative platelet defects
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13
Q

VHL

A
  • von Hippel-Lindau disease: Autosomal dominant
  • Associated with benign (hemangioblastomas in the CNS) and cancerous (renal cell carcinoma, pheochromocytoma) tumors
  • Tumors occurrence in young adulthood
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14
Q

CXCR4

A
  • WHIM syndrome: Gain of function mutation
  • Characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (neutrophils stuck in the bone marrow)
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15
Q

GATA2

A
  • MonoMAC syndrome: Monocytopenia, B and NK cytopenia, and atypical mycobacterial infection
  • Familial AML
  • Emberger syndrome: Lymphedema, warts, and predisposition to AML/MDS
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16
Q

HPS2 (aka AP3B1)

A
  • Hermansky-Pudlack syndrome type 2: Autosomal recessive
  • Characterized by:
    1. Albinism
    2. Neutropenia and immune deficiency
    3. Platelet defects (dense granules)
    4. Propensity to develop HLH
    5. Pulmonary fibrosis
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17
Q

LYST

A
  • Chediak Higashi: Autosomal recessive mutations
  • Characterized by:
    1. Albinism with giant granules in myeloid cells
    2. Platelet defects (dense granules)
    3. Propensity to develop HLH
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18
Q

RAB27A

A
  • Griscelli syndrome type 2: Autosomal recessive
  • Characterized by partial albinism (silver hair) and a propensity to HLH
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19
Q

SH2D1A
XIAP

A
  • XLPS: Associated with
    1. Immunodeficiency (B cells present but dys-/hypogammaglobulinemia)
    2. Fulminant infections with EBV
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20
Q

STAT3
TYK2
DOCK

A
  • Job’s syndrome (aka. Hyper-IgE syndrome): autosomal dominant (STAT3) or recessive (TYK2, DOCK8) defects in JAK-STAT signaling
  • Associated with defective
    1. Immunodeficiency (neutrophil chemotaxis, T cell function, very elevated IgE, and eosinophilia)
    2. Coarse facies
    3. Severe skin, sinus, and pulmonary infections
  • Patients require antimicrobial prophylaxis
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21
Q

ALAS2

A
  • X-linked sideroblastic anemia: ALAS2 encodes for the erythroid ALA-synthase that is part of the heme production synthesis
  • Results in accumulation of erythroblasts with excess iron
  • Visualization with Prussian Blue stain in the bone marrow
  • Peripheral blood has two RBC populations (normocytic and microcytic)
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22
Q

CYB5R1-4

A
  • Cytochrome b5 reductase deficiency: Autosomal recessive methemoglobinemia
  • Type 1: Only RBCs are deficient in cytochrome b5 reductase resulting in lifelong
    methemoglobinemia, cyanosis, physiologic adaptation
  • Type 2: All cells are deficient resulting in Type 1 symptoms, neurological complications, and death within the first year of life
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23
Q

F8 Inv22

A
  • Hemophilia A: Factor VIII intron 22 inversion with truncated protein
  • Causes severe hemophilia A in 50% of patients
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24
Q

GPI Deficiency

A
  • Glucose phosphate isomerase deficiency: 2nd most common hereditary nonspherocytic hemolytic anemia
  • Enzymopathy affecting anaerobic glycolysis and increased splenic clearance of RBCs
  • Associated with neurologic impairment
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25
Q

HBM

A
  • Inherited methemoglobinemia (α58 His→Tyr): Hgb variant with ferric iron
  • Patients are asymptomatic despite high levels of methemoglobin
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26
Q

P5N

A
  • Pyrimidine 5’-nucleotidase deficiency: Autosomal recessive non-spherocytic hemolytic anemia
  • Characterized by basophilic stippling
  • Of note, lead toxicity inhibits pyrimidine 5’-nucleotidase and exhibits basophilic stippling
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27
Q

PKLR

A
  • Pyruvate kinase deficiency: Most common hereditary non-spherocytic hemolytic anemia
  • Enzymopathy affecting anaerobic glycolysis and splenic clearance of RBCs
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28
Q

TMPRSS6

A
  • Iron-refractory iron deficiency anemia (IRIDA): Autosomal recessive
  • Increased expression of the iron regulatory hormone hepcidin, which results in iron deficiency anemia that is refractory to oral iron and only partly responsive to
    parenteral iron
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29
Q

Adrenocortical Carcinoma

A

Li Fraumeni - TP53
Beckwith-Widemann - 11p15.5

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30
Q

Choroid Plexus Carcinoma, Anaplastic RMS, Hypodiploid ALL

A

Li Fraumeni - TP53

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31
Q

Desmoid Tumor

A

FAP - APC

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32
Q

Hepatoblastoma

A

Beckwith-Wideman - 11p15.5
FAP - APC

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33
Q

JMML

A

NF1 - NF1
Noonan - PTPN11, KRAS

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34
Q

Medullary Thyroid Carcinoma

A

MEN 2A/B - RET

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35
Q

Neuroblastoma

A

Familial - ALK
Congenital central Hypovent synd - PHOX2B

36
Q

Pleuropulmonary Blastoma

A

DICER1 Synd - DICER1

37
Q

Pheochromocytoma/Paraganglioma

A

Pheo/paraganglioma syndrome - SDH
NF1 - NF1
MEN2 A/B - RET
von Hipple Lindau - VHL

38
Q

Renal Cell Carcinoma

A

VHL - VHL

39
Q

Rhabdoid Tumor, ATRT

A

Rhabdoid Tumor Syndrome - SMARCB1

40
Q

Wilms Tumor

A

Beckwith-Wideman - 11p15.5
WAGR/Denys-Drash - WT1

41
Q

Familial AML

A

CEBPA

42
Q

alpha 1 Antitrypsin Deficiency

A

SERPINA1 - Hepatocellular Carcinoma

43
Q

Bloom Syndrome

A

BLM - ALL/AML/Wilms

44
Q

Bohring-Opitz Syndrome

A

ASXL1 - Wilms

45
Q

CLOVES

A

PIK3CA - Wilms

46
Q

CAMT

A

cMPL - AML

47
Q

Congenital Hypoventilation Syndrome

A

PHOX2B - Neuroblastoma

48
Q

Constitutional Mismatch Repair Def

A

PMS2, MLH1, MSH2/6 - ALL/High Grade Glioma/Early Colon Cancer

49
Q

Costello

A

HRAS - Rhabdomyosarcoma

50
Q

Cowden

A

PTEN - Papillary thyroid carcinoma

51
Q

Denys Drash

A

WT1

52
Q

Diamond- Blackfan

A

RPS19 - AML/MDS, ALL

53
Q

Frasier Syndrome

A

WT1 - Wilms

54
Q

Glycogen Storage Disease

A

Hepatoblastoma, Hepatocellular Carcinoma

55
Q

Gonadal Dysgenesis

A

46XY Swyer, 45XO Turner - Germ Cell Tumors

56
Q

Gorlin

A

PTCH1, SUFU - Basal cell carcinoma, Rhabdo, Medulloblastoma (SHH)

57
Q

Klinefelter Synd

A

47 XXY - ALL, Germ Cell Tumor

58
Q

Hereditary Leiomyomatosis

A

FH - Renal Cell Carcinoma

59
Q

Li Fraumeni

A

Adrenocortical Carcinoma
ERMS (anaplastic)
Osteosarcoma
Neuroblastoma
Choroid Plexus Carcinoma
Malignant Glioma
Hypodiploid ALL
AML

60
Q

MEN -1

A

MEN1 - Pancreatic neuroendocrine, pituitary, parathyroid, adrenal cortical carcinoma

61
Q

MEN-2A

A

RET - Medullary thyroid cancer

62
Q

MEN-2B

A

RET - Medullary thyroid cancer, pheochromocytoma, paraganglioma

63
Q

MEN4

A

CDKN1B - Pituitary adenoma, parathyroid tumor, GU tumors

64
Q

Familial Neuroblastoma

A

ALK, RASopathies, PHOX2B

65
Q

NF1

A

Optic glioma, MPNST, Pheochromocytoma, Rhabdomyosarcoma, GIST, Neuroblastoma, JMML, Early breast cancer, Adrenocortical carcinoma

66
Q

NF2

A

NF2 - Acoustic schwannomas, meningiomas, astrocytoma, ependymoma

67
Q

Nijmen Breakage Syndrome

A

NBN - ALL

68
Q

Noonan

A

KRAS/PTPN11/CBL - JMML, ALL, Rhabdo, Neuroblastoma

69
Q

Perlman

A

DIS3L2 - Wilms, Nephroblastoma

70
Q

Peutz-Jegher

A

STK11 - Sex cord tumor w/ annular tubules

71
Q

Pheochromocytoma/Paraganglioma

A

SDHx - Pheo, paraganglioma, renal cell carcinoma

72
Q

Familial Platelet Disorder

A

RUNX1 - MDS/AML (Mono 7), anticipation

73
Q

Heritable Retinoblastoma

A

RB - Retinoblastoma, Pineoblastoma, Osteosarcoma

74
Q

Rhabdoid Tumor

A

SMARCB1 - Renal Rhabdoid, ATRT, Schwannomatosis

75
Q

Rhabdoid Tumor Type 2

A

Small cell carcinoma of ovary (hypercalcemic), ATRT

76
Q

Rothmund-Thompson

A

RECQL4 - Osteosarcoma

77
Q

Schwachman - Diamond

A

SBDS, SBDSP++ - MDS/AML

78
Q

Severe Congenital Neutropenia

A

ELANE, SCN7+ - MDS/AML (-7)

79
Q

Simpson - Golabi - Behmel

A

GPC3 - Wilms

80
Q

Sotos

A

NSD1 - Wilms

81
Q

Thrombocytopenia 2

A

ANKRD26 - AML

82
Q

Thrombocytopenia 5

A

ETV6 - Pre-B all (Hyperdiploid), MDS/AML

83
Q

Tuberous Sclerosis

A

TSC1/2 - Subependymal giant cell astrocytoma (SEGA), Renal cell carcinoma

84
Q

WAGR

A

11p- - Wilms

85
Q

Risks of Germline TP53

A

75% - Anaplastic RMS, SHH Medulloblastoma
50% - ACC, Choroid plexus carcinoma, hypodiploid ALL
10% - Early onset breast cancer w/o BRCA 1/2

PHOT Boards 2023 (6 decks)

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