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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
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2
Q

MENIIA

(Sipple syndrome)

A

Autosomal dominant activation of RET (chr 10q11)

Medullary thyroid carcinoma
Parathyroid hyperplasia
Pheochromocytoma

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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

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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

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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

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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

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7
Q

Sturge-Weber

A

Unknown cause

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

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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)

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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

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10
Q

Beckwith-Wiedemann

A

Sporadic or AD duplication of paternal 11p15.

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

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11
Q

WAGR

A

Somatic deletion of WT1 (11p13)

Wilms tumor
Aniridia
GU abnormalities
Retardation

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12
Q

Denys-Drash

A

Somatic WT1 point mutation (11p13)

Wilms tumor (more than WAGR)
Gonadoblastoma
Diffuse mesangial sclerosis
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13
Q

Hereditary papillary renal cell cancer

A

AD MET (7q34)

Multiple bilateral PRCCs (type I)

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14
Q

Hereditary leiomyoma and renal cell carcinoma

A

AD fumarate hydratase (1q42-43)

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

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15
Q

McCune-Albright

A

GNAS1 mosaicism (20q13)

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

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16
Q

Mazabraud’s syndrome

A

Somatic activating GNAS1 (20q13)

Fibrous dysplasia
Soft tissue myxoma

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17
Q

Ollier’s syndrome

A

Somatic PTH1R(?) (3p21-22)

Multiple enchondromas (enchondromatosis)
Increased risk of chondrosarcomas
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18
Q

Maffucci syndrome

A

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

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

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19
Q

Familial adenomatous polyposis

A

APC (5p21)

Intestinal adenomas (requires colectomy to avoid CRC)
PTC, cribriform-morular variant
Juvenile nasopharyngeal angiofibromas
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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

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21
Q

Turcot’s syndrome

A

PMS2! (kind of FAP, kind of HNPCC)

All features of FAP, as well as:
Meduloblastomas

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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*

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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)

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24
Q

MYH-associated polyposis (MAP)

A

AutRec MYH (Y165C, G382D)

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

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25
Hereditary diffuse gastric cancer syndrome
AutDom CDH1 (loss of E-cadherin via promoter hypermethylation) Diffuse gastric cancer, lobular breast cancer.
26
Peutz-Jegher syndrome
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
27
Juvenile polyposis
AutDom SMAD4/DPC4, PTEN, or BMPR1A Multiple juvenile polyps involving the entire GI tract.
28
Cronkhite-Canada
Non-familial. Unknown cause? GI polyposis; hyperplastic in stomach and cystically dilated and edematous elsewhere. CRC-associated. Alopecia, macular skin hyperpigmentation, nail dystrophy
29
Ruval-Caba-Myrhe-Smith | (Bannayan-Riley,Ruvalcaba)
AutDom PTEN (10q23) GI: Hamartomatous polyps Lipomas, hemangiomas Macrocephaly
30
Hereditary breast and ovarian cancer | (both types)
BRCA1 (17q21): Breast (especially medullary) and ovarian (STICs) BRCA2 (13q): Breast, ovarian, male breast/prostate, pancreas
31
Cowden's disease | (Multiple hamartoma syndrome)
AutDom PTEN (10q) Multiple hamartomas and cancers. Breast (often bilateral) Skin facial trichilemmomas, hypopigmentation, epidermoid cysts Lots of goddamn tumors in general geez
32
Familial atypical multiple mole melanoma syndrome
AutDom p16 (9p21) Hundreds of nevi, including dysplastic (risk of melanoma) 16x risk of pancreatic adenocarcinoma
33
Gorlin's syndrome | (nevoid basal cell carcinoma syndrome)
AutDom/Sporadic PTCH (2q22.3-q31) 2+ BCCs before age 20 OKC of the jaw Ovarian fibroma Medulloblastoma Skeletal and congenital malformations
34
Li-Fraumeni
AutDom p53 (17p13) Multiple sarcomas, carcinomas, leukemias, melanomas, and gliomas at a young age.
35
Ataxia-telangiectasia
AutRec ATM (11q22-23) 100x risk of ALL (children) and solid tumors (adults). Progressive ataxia, telangiectasias, IgA deficiency. Sensitivity to ionizing radiation.
36
Bloom syndrome
AutRec BLM helicase (chr 15) Widespread predisposition to cancers, especially leukemias Various developmental defects
37
Fanconi anemia
AutRec, polygenic Predisposition to leukemias and solid tumors (HCC). Hypoplasia of bone marrow, kidney, spleen Absent thumbs and radii
38
Carney complex
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)
39
Retinoblastoma
40% AutDom Rb (13q14) Bilateral retinoblastomas Pineoblastoma Osteosarcomas, other sarcomas
40
Carney triad
? Affects young women ? Paraganglioma Pulmonary chondroma (chondroid hamartoma) Gastric epithelioid GIST
41
Rendu-Osler-Weber syndrome | (Hereditary hemorrhagic telangiectasia)
AutDom ACVRL1/ENG (TGFb pathway) Aneurysmal telangiectasias of skin, GI, respiratory, urinary tracts. Bleeding.
42
_Slide to syndrome_ Adrenal rest tumors of the testis
Congenital adrenal hyperplasia (100%) \*looks like leydig ell tumor, but multifocal without reinke crystals
43
_Slide to syndrome_ Angiomyolipoma
Tuberous sclerosis (20%)
44
_Slide to syndrome_ Hybrid chromophobe-RCC-oncocytoma
Birt-Hogg-Dube (nearly 100%)
45
_Slide to syndrome_ Inverted transitional cell carcinoma of the renal pelvis
HNPCC/Lynch (30%)
46
_Slide to syndrome_ Papillary cystadenoma of epididymis
VHL (33%) \*May be PAX2+, like RCC
47
_Slide to syndrome_ Renal medullary carcinoma
Sickle cell trait (100%)
48
_Slide to syndrome_ RCC, clear cell papillary
ESRD (20%)
49
_Slide to syndrome_ RCC with intratumoral calcium oxalate crystals
ESRD (100%)
50
_Slide to syndrome_ Wilms tumor
WAGR, Denys-Drash, BWS (10-15%)
51
_Slide to syndrome_ Adenoma malignum (minimal deviation adenocarcinoma) of cervix
Peutz-Jegher (5%)
52
_Slide to syndrome_ Adnexal papillary cystadenoma of probable mesonephric origin (APMO)
VHL (100%) \*female counterpart of epididymal papillary cystadenoma
53
_Slide to syndrome_ Gonadoblastoma
Dysgenetic gonad (Turner syndrome) (\>90%)
54
_Slide to syndrome_ Ovarian fibroma
Meig syndrome (ascites, right hydrothorax), NBCCS
55
_Slide to syndrome_ Large cell calcifying sertoli cell tumor
Carney complex, Peutz Jegher (40%)
56
_Slide to syndrome_ Sex cord tumor with annular tubules (SCTAT)
Peutz-Jegher (35%)
57
_Slide to syndrome_ Multiple angiofibromas (adenoma sebaceum, fibrous papule)
Tuberous sclerosis, MEN1
58
_Slide to syndrome_ Angiokeratoma, corporis diffusum type
Fabry and other storage diseases (\>90%)
59
_Slide to syndrome_ Multiple BCCs in young age
NBCCS, xeroderma pigmentosum
60
_Slide to syndrome_ Fibrofolliculoma
Birt-Hogg-Dube (100% if multiple)
61
_Slide to syndrome_ Sebaceous adenoma/carcinoma
Muir-Torre (MSH2\>MLH1 mutations) 80%, less if above chin
62
_Slide to syndrome_ Trichilemmoma (multiple, facial)
Cowden (100%)
63
_Slide to syndrome_ PTC, cribriform-morular variant
FAP (80%)
64
_Slide to syndrome_ Medullary carcinoma of thyroid
MEN2A, MEN2B, isolated site inherited endocrinopathy (25%)
65
_Slide to syndrome_ Endolymphatic sac tumor
VHL (15%)
66
_Slide to syndrome_ OKCs, especially multiple
NBCCS (Gorlin) (5%)
67
_Slide to syndrome_ Hemangioblastoma
VHL (25)
68
_Slide to syndrome_ Medulloblastoma
Turcot, NBCCS (10%)
69
_Slide to syndrome_ Neurofibroma (plexiform, diffuse)
NF1 (plexiform \>90%, diffuse 10%)
70
_Slide to syndrome_ Subependymal giant cell astrocytoma
Tuberous sclerosis (\>90%)
71
_Slide to syndrome_ Lung lymphangioleiomyomatosis
Tuberous sclerosis (15%, a PEComa)
72
_Slide to syndrome_ Mediastinal carcinoid tumor
MEN1 (25%, less for pulmonary)
73
_Slide to syndrome_ Breast & ovarian serous carcnioma
BRCA1 (\>50% if both present)
74
_Slide to syndrome_ Male breast carcinoma
BRCA2 (5-40%)
75
_Slide to syndrome_ Medullary carcinoma of breast
BRCA1 (10%)
76
_Slide to syndrome_ Heart fibroma
NBCCS (5%)
77
_Slide to syndrome_ Heart myxoma
Carney complex (\<5%)
78
_Slide to syndrome_ Cardiac rhabdomyoma
Tuberous sclerosis (50%)
79
_Slide to syndrome_ Clear cell PEN and clear cell serous cystadenoma of the pancreas
VHL (high?)
80
_Slide to syndrome_ Duodenal gangliocytic paraganglioma
NF1
81
_Slide to syndrome_ Ganglioneuromatous polyposis
Cowden's, JP, NF1, FAP (100% if multiple)
82
_Slide to syndrome_ Diffuse ganglioneuromatosis
MENIIb, NF1 (100%)
83
_Slide to syndrome_ Gastrin-secreting PEN, duodenal gastrinomas
MEN1 (20-25%, Zollinger-Ellison syndrome)
84
_Slide to syndrome_ Pancreatic endocrine microadenomatosis
MEN1, rarely VHL (\>95%)
85
_Slide to syndrome_ Duodenal somatostatinoma
NF1 (50%)
86
_Slide to syndrome_ Adrenocortical carcinoma (in children)
BWS, MEN1, Li-Fraumeni (50-80%)
87
_Slide to syndrome_ Congenital adrenal cytomegaly
BWS
88
_Slide to syndome_ Pheochromocytoma
MEN2A/B, VHL, NF1, Sturge-Weber, isolated familial pheochromocytoma (10-25%)
89
_Slide to syndrome_ Primary pigmented nodular adrenocortical disease
Carney complex (\>90%)
90
What are the Amsterdam criteria, and what is their purpose?
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
What are the revised Bethesda guidelines?
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
What is the significance fo an MMR-deficient or MSI-high tumor with BRAF V600E mutations?
These are generally seen in sporadic MMR-deficient tumors, and nearly excludes Lynch syndrome.
93
What is the difference between MSI-high, MSI-low, and microsatellite-stable (MSS)?
PCR based assays: MSI-high: 2+ microsatellite markers unstable MSI-low: 1 of 5 microsatellite markers unstable MSS: All stable.
94
What are the pathologic features of CRC associated with Lynch syndrome?
Tumor infiltrating lymphocytes Crohn-like reaction Extracellualr mucin Signet ring cell differentiation Medullary growth pattern Pushing border Right-sided location
95
What are the pathologic features of endometrial carcinoma associated with Lynch syndrome?
Tumor-infiltrating lymphocytes Tumor heterogeneity (incl. dediff/undiff histology) lower uterine segment location

Quick Reference Handbook for Surgical Pathologists (9 decks)

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