Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Quick Reference Handbook for Surgical Pathologists > Chapter 7: Tumor syndromes > Flashcards

Chapter 7: Tumor syndromes Flashcards

1
Q

MEN1

(Wermer syndrome)

A

Autosomal dominant activation of MEN1 (chr 11q13).

Pituitary adenoma (or hyperplasia)
Parathyroid hyperplasia
Pancreatic endocrine neoplasms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

MENIIA

(Sipple syndrome)

A

Autosomal dominant activation of RET (chr 10q11)

Medullary thyroid carcinoma
Parathyroid hyperplasia
Pheochromocytoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

MENIIb (III)

(Gorlin syndrome)

A

Autosomal dominant activation of RET (Chr 10q11)

Medullary thyroid carcinoma
Pheochromocytoma
Diffuse ganglioneuromatosis of the GI tract
Marfanoid body habitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Neurofibromatosis type I

(von Recklinghausen disease, peripheral neurofibromatosis)

A

AD loss of neurofibromin (Chr 17q11.2)

Neurofibromas (especially plexiform, diffuse, MPNST)
Optic nerve gliomas (pilocytic astrocytoma)
Cafe au lait spots, lisch nodules
Ampullary somatostatinoma, duodenal paraganglioma, GIST, pheochromocytoma, JXGA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Neurofibromatosis type II

(Central/acoustic neurofibromatosis)

A

AD/sporadic loss of Merlin (chr 22q12)

Bilateral acoustic schwannomas
Meningiomas
Spinal cord ependymomas
Cafe au lait spots but no lisch nodules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Tuberous sclerosis

(Bourneville’s disease)

A

AD loss of TSC1 (Hamartin, 9p34) or TSC2 (Tuberin, 16p13)

PEComas (renal AML, pulmonary LAM)
CNS: Cortical tubers, SEGA
Cardiac rhabdomyoma
Skin: Angiofibroma, periungual fibroma, shagreen & ash-leaf patches

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Sturge-Weber

A

Unknown cause

Port-wine stain (Nevus flammeus) in trigeminal nerve distribution
Pheochromocytoma
Leptomeningeal angiomatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Von Hippel-Lindau

A

AD loss of VHL (3p25)

Clear cell RCC
Hemangioblastoma (cerebellar, spinal, retinal)
Pheochromocytoma
Multiple liver/pancreas/kidney cysts
Clear cell pancreatic islet cell tumor
Papillary cystadenomas
Endolymphatic sac tumor of the ear (Heffner)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Birt-Hogg-Dube

A

AD loss of BHD/folliculin (17p11.2)

Renal tumors (RCCs, oncocytomas, hybrids)
Facial fibrofolliculomas and skin tags
Lung cysts/blebs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Beckwith-Wiedemann

A

Sporadic or AD duplication of paternal 11p15.

Overgrowth (hemihypertrophy, macroglossia, organomegaly)
Childhood neoplasms: Wilm’s, hepatoblastoma, pancreatoblastoma, neuroblastoma.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

WAGR

A

Somatic deletion of WT1 (11p13)

Wilms tumor
Aniridia
GU abnormalities
Retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Denys-Drash

A

Somatic WT1 point mutation (11p13)

Wilms tumor (more than WAGR)
Gonadoblastoma
Diffuse mesangial sclerosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Hereditary papillary renal cell cancer

A

AD MET (7q34)

Multiple bilateral PRCCs (type I)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Hereditary leiomyoma and renal cell carcinoma

A

AD fumarate hydratase (1q42-43)

PRCC (type 2) and leiomyomas with distinct cytologic features.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

McCune-Albright

A

GNAS1 mosaicism (20q13)

Fibrous dysplasia of bone
Cafe au lait spots
Endocrine abnormalities: Precocious puberty, gigantism, cushing’s, thyrotoxicosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mazabraud’s syndrome

A

Somatic activating GNAS1 (20q13)

Fibrous dysplasia
Soft tissue myxoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Ollier’s syndrome

A

Somatic PTH1R(?) (3p21-22)

Multiple enchondromas (enchondromatosis)
Increased risk of chondrosarcomas
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Maffucci syndrome

A

Somatic PTH1R mutations (?) (3p21-22)

Multiple enchondromas (enchondromatosis)
Soft tissue hemangiomas
Increased risk of chondrosarocma+angiosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Familial adenomatous polyposis

A

APC (5p21)

Intestinal adenomas (requires colectomy to avoid CRC)
PTC, cribriform-morular variant
Juvenile nasopharyngeal angiofibromas
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Gardner’s syndrome

A

APC (5p21)

All features of FAP, as well as:
Soft tissue tumors (Fibromatosis, osteomas, nuchal fibroma)
Skin lesions (Epidermoid cysts, pilomatricomas)
Dental abnormalities: Unerupted teeth, supernumerary teeth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Turcot’s syndrome

A

PMS2! (kind of FAP, kind of HNPCC)

All features of FAP, as well as:
Meduloblastomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

HNPCC

(mutations & frequency only)

A

hMLH1 (40%) - 3p21
*more often sporadic*

hMSH2 (40%) - 2p22

hMSH6 (10%) - 2p16.3

PMS2 (5%) - 7p22.1

EPCAM (5%)
*affects MSH2*

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

HNPCC

(tumors)

A

Colorectal (80%)

Endometrium (60%)

Ovary (12%)

Stomach, pancreatobiliary, small bowel

Upper tract urothelial (with inverted growth)

Brain

Skin (sebaceous adenomas, keratoacanthomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

MYH-associated polyposis (MAP)

A

AutRec MYH (Y165C, G382D)

Like an attenuated FAP (fewer polyps, extracolonic features).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Hereditary diffuse gastric cancer syndrome

A

AutDom CDH1 (loss of E-cadherin via promoter hypermethylation)

Diffuse gastric cancer, lobular breast cancer.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Peutz-Jegher syndrome

A

AutDom STK11/LKB1 (19p13)

GI hamartomatous polyps, GI malignanies

Reproductive organ malignancies (Adenoma malignum of uterine cervix, SCTAT, large cell calcifying sertoli cell tumor)

Breast, lung

Mucocutaneous pigmented macules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Juvenile polyposis

A

AutDom SMAD4/DPC4, PTEN, or BMPR1A

Multiple juvenile polyps involving the entire GI tract.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Cronkhite-Canada

A

Non-familial. Unknown cause?

GI polyposis; hyperplastic in stomach and cystically dilated and edematous elsewhere. CRC-associated.

Alopecia, macular skin hyperpigmentation, nail dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Ruval-Caba-Myrhe-Smith

(Bannayan-Riley,Ruvalcaba)

A

AutDom PTEN (10q23)

GI: Hamartomatous polyps

Lipomas, hemangiomas

Macrocephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Hereditary breast and ovarian cancer

(both types)

A

BRCA1 (17q21): Breast (especially medullary) and ovarian (STICs)

BRCA2 (13q): Breast, ovarian, male breast/prostate, pancreas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Cowden’s disease

(Multiple hamartoma syndrome)

A

AutDom PTEN (10q)

Multiple hamartomas and cancers.

Breast (often bilateral)

Skin facial trichilemmomas, hypopigmentation, epidermoid cysts

Lots of goddamn tumors in general geez

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Familial atypical multiple mole melanoma syndrome

A

AutDom p16 (9p21)

Hundreds of nevi, including dysplastic (risk of melanoma)

16x risk of pancreatic adenocarcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Gorlin’s syndrome

(nevoid basal cell carcinoma syndrome)

A

AutDom/Sporadic PTCH (2q22.3-q31)

2+ BCCs before age 20

OKC of the jaw

Ovarian fibroma

Medulloblastoma

Skeletal and congenital malformations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Li-Fraumeni

A

AutDom p53 (17p13)

Multiple sarcomas, carcinomas, leukemias, melanomas, and gliomas at a young age.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Ataxia-telangiectasia

A

AutRec ATM (11q22-23)

100x risk of ALL (children) and solid tumors (adults).

Progressive ataxia, telangiectasias, IgA deficiency.

Sensitivity to ionizing radiation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Bloom syndrome

A

AutRec BLM helicase (chr 15)

Widespread predisposition to cancers, especially leukemias

Various developmental defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Fanconi anemia

A

AutRec, polygenic

Predisposition to leukemias and solid tumors (HCC).

Hypoplasia of bone marrow, kidney, spleen

Absent thumbs and radii

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Carney complex

A

AutDom PKA (17q22, 2p16)

Myxoid lesions (cardiac, skin, breast fibroadnoma)

Pigmented and calcifying lesions (epithelioid blue nevus, pigmented nodular adrenocortical hyperplasia, psammomatous melanotic schwannoma, large cell calcifying sertoli cell tumor)

Endocrine hyperactivity (pituitary adenoma, chondroid hamartoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Retinoblastoma

A

40% AutDom Rb (13q14)

Bilateral retinoblastomas

Pineoblastoma

Osteosarcomas, other sarcomas

40
Q

Carney triad

A

? Affects young women ?

Paraganglioma

Pulmonary chondroma (chondroid hamartoma)

Gastric epithelioid GIST

41
Q

Rendu-Osler-Weber syndrome

(Hereditary hemorrhagic telangiectasia)

A

AutDom ACVRL1/ENG (TGFb pathway)

Aneurysmal telangiectasias of skin, GI, respiratory, urinary tracts. Bleeding.

42
Q

Slide to syndrome

Adrenal rest tumors of the testis

A

Congenital adrenal hyperplasia (100%)

*looks like leydig ell tumor, but multifocal without reinke crystals

43
Q

Slide to syndrome

Angiomyolipoma

A

Tuberous sclerosis (20%)

44
Q

Slide to syndrome

Hybrid chromophobe-RCC-oncocytoma

A

Birt-Hogg-Dube (nearly 100%)

45
Q

Slide to syndrome

Inverted transitional cell carcinoma of the renal pelvis

A

HNPCC/Lynch (30%)

46
Q

Slide to syndrome

Papillary cystadenoma of epididymis

A

VHL (33%)

*May be PAX2+, like RCC

47
Q

Slide to syndrome

Renal medullary carcinoma

A

Sickle cell trait (100%)

48
Q

Slide to syndrome

RCC, clear cell papillary

A

ESRD (20%)

49
Q

Slide to syndrome

RCC with intratumoral calcium oxalate crystals

A

ESRD (100%)

50
Q

Slide to syndrome

Wilms tumor

A

WAGR, Denys-Drash, BWS (10-15%)

51
Q

Slide to syndrome

Adenoma malignum (minimal deviation adenocarcinoma) of cervix

A

Peutz-Jegher (5%)

52
Q

Slide to syndrome

Adnexal papillary cystadenoma of probable mesonephric origin (APMO)

A

VHL (100%)

*female counterpart of epididymal papillary cystadenoma

53
Q

Slide to syndrome

Gonadoblastoma

A

Dysgenetic gonad (Turner syndrome) (>90%)

54
Q

Slide to syndrome

Ovarian fibroma

A

Meig syndrome (ascites, right hydrothorax), NBCCS

55
Q

Slide to syndrome

Large cell calcifying sertoli cell tumor

A

Carney complex, Peutz Jegher (40%)

56
Q

Slide to syndrome

Sex cord tumor with annular tubules (SCTAT)

A

Peutz-Jegher (35%)

57
Q

Slide to syndrome

Multiple angiofibromas (adenoma sebaceum, fibrous papule)

A

Tuberous sclerosis, MEN1

58
Q

Slide to syndrome

Angiokeratoma, corporis diffusum type

A

Fabry and other storage diseases (>90%)

59
Q

Slide to syndrome

Multiple BCCs in young age

A

NBCCS, xeroderma pigmentosum

60
Q

Slide to syndrome

Fibrofolliculoma

A

Birt-Hogg-Dube (100% if multiple)

61
Q

Slide to syndrome

Sebaceous adenoma/carcinoma

A

Muir-Torre (MSH2>MLH1 mutations)

80%, less if above chin

62
Q

Slide to syndrome

Trichilemmoma (multiple, facial)

A

Cowden (100%)

63
Q

Slide to syndrome

PTC, cribriform-morular variant

A

FAP (80%)

64
Q

Slide to syndrome

Medullary carcinoma of thyroid

A

MEN2A, MEN2B, isolated site inherited endocrinopathy (25%)

65
Q

Slide to syndrome

Endolymphatic sac tumor

A

VHL (15%)

66
Q

Slide to syndrome

OKCs, especially multiple

A

NBCCS (Gorlin) (5%)

67
Q

Slide to syndrome

Hemangioblastoma

A

VHL (25)

68
Q

Slide to syndrome

Medulloblastoma

A

Turcot, NBCCS (10%)

69
Q

Slide to syndrome

Neurofibroma (plexiform, diffuse)

A

NF1 (plexiform >90%, diffuse 10%)

70
Q

Slide to syndrome

Subependymal giant cell astrocytoma

A

Tuberous sclerosis (>90%)

71
Q

Slide to syndrome

Lung lymphangioleiomyomatosis

A

Tuberous sclerosis (15%, a PEComa)

72
Q

Slide to syndrome

Mediastinal carcinoid tumor

A

MEN1 (25%, less for pulmonary)

73
Q

Slide to syndrome

Breast & ovarian serous carcnioma

A

BRCA1 (>50% if both present)

74
Q

Slide to syndrome

Male breast carcinoma

A

BRCA2 (5-40%)

75
Q

Slide to syndrome

Medullary carcinoma of breast

A

BRCA1 (10%)

76
Q

Slide to syndrome

Heart fibroma

A

NBCCS (5%)

77
Q

Slide to syndrome

Heart myxoma

A

Carney complex (<5%)

78
Q

Slide to syndrome

Cardiac rhabdomyoma

A

Tuberous sclerosis (50%)

79
Q

Slide to syndrome

Clear cell PEN and clear cell serous cystadenoma of the pancreas

A

VHL (high?)

80
Q

Slide to syndrome

Duodenal gangliocytic paraganglioma

A

NF1

81
Q

Slide to syndrome

Ganglioneuromatous polyposis

A

Cowden’s, JP, NF1, FAP (100% if multiple)

82
Q

Slide to syndrome

Diffuse ganglioneuromatosis

A

MENIIb, NF1 (100%)

83
Q

Slide to syndrome

Gastrin-secreting PEN, duodenal gastrinomas

A

MEN1 (20-25%, Zollinger-Ellison syndrome)

84
Q

Slide to syndrome

Pancreatic endocrine microadenomatosis

A

MEN1, rarely VHL (>95%)

85
Q

Slide to syndrome

Duodenal somatostatinoma

A

NF1 (50%)

86
Q

Slide to syndrome

Adrenocortical carcinoma (in children)

A

BWS, MEN1, Li-Fraumeni (50-80%)

87
Q

Slide to syndrome

Congenital adrenal cytomegaly

A

BWS

88
Q

Slide to syndome

Pheochromocytoma

A

MEN2A/B, VHL, NF1, Sturge-Weber, isolated familial pheochromocytoma (10-25%)

89
Q

Slide to syndrome

Primary pigmented nodular adrenocortical disease

A

Carney complex (>90%)

90
Q

What are the Amsterdam criteria, and what is their purpose?

A

Rules to identify patients for heritable MMR testing.

3+ relatives with CRC, at least one first-degree
2+ consecutive generations affected
1+ family member with CRC before age 50

91
Q

What are the revised Bethesda guidelines?

A
  1. CRC before age 50
  2. 2+ HNPCC-related cancers
  3. CRC with MSI-high morphology before age 60
  4. CRC in patient and 2+ relatives
  5. CRC inpatient and 1+ relatives before age 50.

If any are positive, do IHC/PCR on specimen, then consider germline testing.

92
Q

What is the significance fo an MMR-deficient or MSI-high tumor with BRAF V600E mutations?

A

These are generally seen in sporadic MMR-deficient tumors, and nearly excludes Lynch syndrome.

93
Q

What is the difference between MSI-high, MSI-low, and microsatellite-stable (MSS)?

A

PCR based assays:

MSI-high: 2+ microsatellite markers unstable

MSI-low: 1 of 5 microsatellite markers unstable

MSS: All stable.

94
Q

What are the pathologic features of CRC associated with Lynch syndrome?

A

Tumor infiltrating lymphocytes

Crohn-like reaction

Extracellualr mucin

Signet ring cell differentiation

Medullary growth pattern

Pushing border

Right-sided location

95
Q

What are the pathologic features of endometrial carcinoma associated with Lynch syndrome?

A

Tumor-infiltrating lymphocytes

Tumor heterogeneity (incl. dediff/undiff histology)

lower uterine segment location

Quick Reference Handbook for Surgical Pathologists (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions