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Pathology > Syndromes > Flashcards

Syndromes Flashcards

1
Q

NF1 is on chromosome

A

17q11.2

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2
Q

17q11.2 protein product?

A

Neurofibromin

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3
Q

Hallmark findings of NF1?

A

i. Multiple Café au lait macules
ii. Neurofibromas (Plexiform)
iii. Lisch nodules

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4
Q

NF1 associated bone lesion?

A

Sphenoid wing dysplasia

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5
Q 
NF1 associated tumors? 
Soft tissue (6):
Carcinoma:
Heme: 
GI:
A

Soft tissue: MPNST, Rhabdomyosarcoma, non ossifying fibromas, Glomus tumors, Carcinoid tumors, Pheochromocytoma

GI: ampullary adenoCA, GIST (lacks kit), somatostatinoma, gangliocytic paraganglioma, neurofibrmas

Heme: JMML

Breast cancer

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6
Q

NF1 associated brain tumors?

A

Astrocytoma and optic/brainstem gliomas

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7
Q

NF2 is on chromosome?

A

22q12; Merlin

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8
Q

Hallmark findings of NF2?

A

Bilateral vestibular Schwannomas, meningiomas, ependymomas,

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9
Q

Other NF2 associated tumors?

A

Retinal hamartomas, Astrocytomas

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10
Q

TS1 is on chromosome? name?

A

9p34 ( Hamartin)

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11
Q

TS2 is on chromosome? name?

A

16p13.3 (Tuberin)

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12
Q

Major features of TS?
Soft tissue/skin (6)
CNS/eye (4)
Heart

A
  • Connective tissue nevus (Shagreen patch)
  • Facial angiofibromas (adenoma sebaceum)
  • Lymphangioleiomyomatosis (LAM)
  • Angiomyolipoma
  • Subungual and periingual fibromas (Koenen tumor)
  • Hypomelanocytic macules (ash leaf spots)
  • gycogen acanthosis
  • Retinal hamartomas
  • Cerebral cortical tuber
  • Subependymal nodule
  • Subependymal giant cell astrocytoma (SEGA)
  • Cardiac rhabdomyoma
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13
Q

Name chromosomes for VHL

A

3p25-26

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14
Q

Characteristic findings of VHL

CNS/eye:
Kidney: 
Pancreas:
Adrenal: 
GU:
A
  • Hemangioblastomas in CNS and retina
  • Endolymphatic sac tumor
  • Clear cell RCC,
  • serous Cysts in pancreas and kidney (VHL1)
  • Pancreatic islet cell tumors
  • Pheochromocytoma (VHL2)
  • Papillary cystadenoma of epididymis
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15
Q

Sturge-Weber characteristic finding?

A

Port wine stain on ophthalmic division of trigeminal nerve

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16
Q

Other sturge-weber findings?

A

meningeal angiomatosis
brain calcifications
seizures
mental retardation

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17
Q

FAP chromosome? gene name?

A

5q21-22, APC gene

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18
Q

FAP findings?

Colon:
SI:
Stomach: 
Liver: 
Pancrease/bile duct: 
Soft tissue: 
Bone: 
Teeth: 
Eye: 
Endocrine system: 
Brain (Turcot syndrome): 
Head and neck:
A

Colon: >100 polyps
SI: Duodenal ampullary adenoma, periampullary adenocarcinoma
Stomach: fundic gland polyp
Liver: Hepatoblastoma
Pancrease/bile duct: Adenocarcinoma
Soft tissue: Fibromatosis
Bone: osteomas
Teeth: impaction
Eye: Congenital hypertrophy of retinal pigment epithelium (CHRPE) (Earliest manifestation)
Endocrine system:
Papillary thyroid carcinoma, cribriform morular variant, in women
Adrenal cortical neoplasms
Pancreatic islet cell neoplasms
Rare reports of parathyroid and pituitary adenomas
Brain (Turcot syndrome):
Hereditary CRC & brain tumor
FAP patients: Medulloblastomas
Lynch patients: Gliomas
Head and neck: Nasopharyngeal angiofibroma

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19
Q

Gardner chromosome? gene?

A

5q21-22, APC ( same as FAP)

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20
Q

Gardner finding?

Soft tissue:
Bone:
GI
Eye

A
  • Desmoid fibromatosis (intrabadominal)
  • Epidermal inclusion cysts
  • Osteoid Osteomas (mandibular and maxillary)
  • Chronic polyps (can have malignant transformation)
  • congenital hypertrophy of the retinal pigmented epithelium
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21
Q

Turcot Syndrome: chromosome? gene?

A

5q21-22, APC ( same as FAP)
Adenomatous colorectal polyps- attenuated FAP

Type 1: GBM with hereditary non-polyposis CRC (HNPCC)
- Mutations in mismatch repair genes (Hpms2; 7p22)
Type 2: Medulloblastomas in patients with familial adenomatous polyposis (FAP)
- Germlines mutations in APC gene (5q21)

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22
Q

Ollier Synd.

A

Multiple endondromatosis

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23
Q

Maffucci Syndrome:

A

Spindle cell hemangio(endothelio)ma + enchondroma

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24
Q

McCune Albright Synd: Mutation?

A

GNAS1 gene mutation with mosaic distribution

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25
Q

McCune Albright Synd: Triad?

A
  • Café au lait skin pigmentation
  • Polyostotic fibrous dysplasia
  • Hyperfunctioning endocrinopathies
    • Cases precocious puberty
    • hyperthyroidism
    • GH excess
    • Cushing syndrome
    • follicular thyroid carcinoma
      • PTC
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26
Q

Mazabraud Synd:

A
  • Multiple cutaneous or IM myxomas

- Polyostotic fibrous dysplasia

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27
Q

Basal cell nevus syndrome, Gorlin Synd: Mutation? inheritance?

A

AD
Germline mutations of PTCH gene (chromosome 9q22.3):
SONIC HEDGEHOG (SSH) PATHWAY

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28
Q

Basal cell nevus syndrome, Gorlin Synd: Assoc.?

Skin
Soft tissue
Bone
Brain:

A
  • Multiple basal cell carcinomas
  • Dyskeratotic pits of the palms/soles
  • fibromas, cardiac/ovary
  • Rhabdomyosarcomas
  • Odontogenic keratocysts (jaw)
  • Bifid ribs
  • Intracranial calcifications
  • Macrocephaly
  • Nodular/desmoplastic medulloblastomas
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29
Q

Li-Fraumeni Syn: mutation?

A

p53

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30
Q

Li-Fraumeni Syn: assoc?

A

osteosarcoma (1000x risk)
medulloblastoma
Unusual thyroid follicular cell tumors with marked nuclear pleomorphism

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31
Q

Carney’s Synd.:

A

NAME : Nevi, Atrial Myxoma, Myxoid Neurofibroma, Ephelides
LAMB: Lentigenes, A, M, Blue nevi

Myxomas : Breast, Gyn, skin
Endocrine overactivity (pituitary adenoma, follicular adenoma, Primary Pigmented Nodular adrenocorital Disease)
Melanocytic schwannomas
Large cell calcifying sertoli cell tumors (multiple, bilateral)

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32
Q

Carney’s Triad:

A

Multiple GIST (with SDH mutation)
Functioning, extra-adrenal paraganglioma
Pulmonary chondromas

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33
Q

Carney Complex: Mutation? inheritance?

A

AD

PRKAR1A mutation on Ch 17q

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34
Q

Cowden dz: Mutation? inheritance?

A

PTEN mutation, 10q

AD

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35
Q

Cowden: Tumors?

Brain

Breast
Thyroid
Uterus

Soft tissue

Skin
Malformation

A
  • Cerebellar dysplastic gangliocytoma (Lhermitte-Duclos lesion): PATHOGNOMONIC
  • Benign and malignant tumors of breast, uterus, thyroid
    • Breast cancer: early onset (38-46 y/o)
    • Follicular adenoma/carcinoma
  • Hamartomas
  • Papillomas
  • Lipomas (lipomatosis)
  • Oral fibromas
  • ganglioneuromas
  • gycogen acanthosis
  • Trichilemmomas
  • Malf of GU tract
  • Palmoplantar keratosis and hyperkeratotic pits
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36
Q

Ataxia telangiectasia:mutation?

A

ATM, chrom 11

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37
Q

Ataxia telangiectasia:assoc?

A 
Cerebellar Ataxia
Oculocutaenous telangiectasia
Sinopulmonary infection
Hypoplasia of thymus, tonsils, adenoids
Combined B and T cell defect
Deficient IgA with high AFP and CEA
Hematolymphoid malignancy (100x)
Increased cancer risk
38
Q

BRCA-1

A 
17q21, Tumor suppressor gene
Medullary breast cancer
Colon 
Ovary
Prostate
39
Q

BRCA-2

A 
13q12-13
Possible role in DNA repair
Male breast
Pancreas 
Ovary
Prostate
40
Q

Lynch Synd (hereditary nonpolyposis colorectal cancer, HNPCC, Synd): Mutation? inheritance?

A

AD
Caused by defects in DNA mismatch repair (MMR) gene
MLH-1, MSH-2, MSH-6, PMS-2

41
Q

Lynch Synd (hereditary nonpolyposis colorectal cancer, HNPCC, Synd): Lesions?

A
  • Progress from sessile serrated adenomas
  • large exophytic mass in right colon
    • often have mucinous differentiation
    • lack central dirty necrosis
    • tumor infiltrating lymphocytes
    • peritumoral “Chronlike” nodular lymphoid
      reaction
    • Pushing tumor margin
42
Q

Klinefelter Syndrome

A

Leydig cell tumors

43
Q

Autosomal Dominant Polycystic Kidney Disease (ADPKD): Mutation? inheritance?

A

AD

Mutations in genes PKD1 (in Ch16) and PKD2 (in Ch4); affecting polycystin-1 and polycystin-2

44
Q

Autosomal Dominant Polycystic Kidney Disease (ADPKD): Lesions?

A 
Multiple renal cysts
Liver cysts (50%) (no dysfxn)
Pancreatic cysts
Cardiac valve abnormalities, MVP (~25%)
Berry aneurysms (5-8%
45
Q

Wiskott-Aldrich Syndrome:

A 
Dense granule disorder
X-linked defects in WASP gene
Increased IgE
Triad:
	- Thrombocytopenia with small platelets
	- Eczema
	- Immunodeficiency
46
Q

Birt-Hogg-Dube Syn

A 
AD
BHD (FLCN) gene on Ch17p11.2, folliculin
Assoc w:
	- RCC (mixed chromophobe/oncocytoma)
	- Cystic pulmonary lesions with recurrent 
           spontaneous pneumothorax
	- Multiple cutaneous fibrofolliculomas
	- Acrochordons
	- Trichodiscomas
47
Q

Muir-Torre Syn

A

Tumors:

- Sebaceous neoplasms:
    - Well differentiated sebaceous carcinoma	
    - Sebaceous adenomas - Higher risk of other hereditary nonpolypopsis CRC-related tumors
48
Q

Peutz-Jeghers Syndrome

Oral:
GI:
Malignancies of the:

A

AD; LKB1/SKT11 gene (19p13.3)
Perioral pigmented macules
GI hamartomatous polyps

Increased risk of benign and malignant neoplasms: (not the polyps themselves)
- Pancreatic Ca (1oo fold increase)
- Breast Ca
- Ovarian sex cord tumor with annular tubules
(SCTAT)
- Less common: adenoma malignum of the uterine
cervix, sertoli cell tumors of the testis

49
Q

WAGR Synd. (WT-1)
How is it acquired?
Stands for?

A

2HITS, germline and a frameshift/nonsense mutation on 11p13 locus: contains WT1 and PAX6 genes

Tumors:

  • Wilms tumor (Nephroblastoma)
  • Aniridia
  • Genital abnormalities
  • Mental Retardation
50
Q

Denys-Drash Synd

A

Germline mutation in the zinc-finger region of WT1 protein

Assoc with:
	Male pseudohermaphroditism
	Diffuse mesangial sclerosis
Tumors:
	Wilms tumor (Nephroblastoma)
	Gonadoblastoma
51
Q

Fanconi anemia

Skeletal:

Heme:

Population:

A

AR Chromosomal breakage syndrome

Absent thumb, microcephaly

Macrocytic anemia –> pancytopenia
AML (600x)
MDS (5,000x)
elevated Hb F

South Africans

52
Q

MEN1 (Wermer syndrome)

A

AD
Chrom 11, MEN1 gene

Pituitary adenoma (majority are prolactinoma)
Hyper parathyroid 
Pancreatic endocrine tumor ( gastrinoma->ZE ,> insulinoma > glucagonoma)
53
Q

Juvenile polyposis

A

SMAD4/DPC4 (40%) Increased risk of CRC

Associated:
Hydrocephalus 
Pulm AVM
Cleft palate 
Polydactyl 
Meckels 
Malrotation
54
Q

Alpha 1 antitrypsin disease

A

SERPINA (SERPINC1 is antithrombin deficiency)
Chromosome 14 AR

PiZZ is the abnormal genotype
PiMM is the normal

55
Q

Men 2a (Sipple syndrome)

A

MTC
Pheo
Parathyroid adenoma/hyperplasia

RET 10q12 EXON 10 & 11

56
Q

MEN2B

A 
MTC
pheo
Mucosal neuromas
"Marfanoid" body 
Medullated corneal nerve fibers
Ganglioneuromatosis

RET 10q12 EXON 16

57
Q

Familial paraganlioma

A

SDH Succinate Dehyrdrogenase

58
Q

Alports

A

COL4A5, Xp22.3
a5 chain of type 4 collagen

Glomerulonephritis, Ocular lesions, sensorinueral hearing loss

59
Q

Name syndrome

Healthy young men, sudden death during sleep
Southeast asia
Mutation in SCN5A

A

Brugada syndrome

8 mutations in total
SCN5A, GPD1L, CACNA1C and others

60
Q

Name syndrome

Healthy young men, sudden death during physical activity
Fibrous and fatty replacement of the right ventricle

A

Arrhtymogenic right ventricular dysplasia

61
Q

Whats that gene/chrom

Long QT
Exercise triggered (especially swimming)
A

LQT1 on 11p15.5 - most common QT

62
Q

Whats that gene/chrom

Long QT
Auditory stimulus or emotional stimmulus triggered arrhythmias

A

LQT2 on 7q35-36

63
Q

Name the syndrome and mutation

Healthy young men, sudden death during physical activity
Heart shows hypertrophy with disproportionate thickening of the ventricular septum

A

Hypertrophic cardiomyopathy : MYH7
AD

MYH7 also seen in AD dilated cardiomyopathy

64
Q

Pulmonic stenosis
Right sided heart defects
prolonged coagulations
PTPN11

A

Noonan syndrome

65
Q 
Cholestasis in the neonatal period
Bile duct paucity 
Heart defects: Pulm artery stenosis, Tetraology, ASD, VSD
Facial dysmporphism
Butterfly vertebrae
JAG1
AD
A

Alagille syndrome

66
Q

Trisomy 21: name the heart defect

A

malformation of the endocardial cushion resulting in the membranous VSD

67
Q

Biscuspid aorta
Coarctation of aorta
lymphangioma
shield chest

A

Turner 45 X

68
Q

Males with hypogonadotropic hypogonadism
anosmia
Xp22.3, KAL1 gene

A

Kallmann syndrome

69
Q

Hirschprung disease seen in

A

Trisomy 21
NF1
MEN 2A

70
Q 
Epistaxis in children
Skin lesions in adolescence
GI bleed in adults
AD
ENG gene or ACVRL1 gene
A

Osler-Weber-Rendu syndrome

hereditary hemorrhagic telangiectasia

71
Q 
Malabsorption in neonates
Paper thin wall of the small bowel
Villus blunting
mucosal atrophy
Apical intracellular inclusions (PAS +)
AR
A

Microvillus Inclusion Disease

72
Q

VACTERL stands for

A 
Vertebral
Anal
Cardiac
Tracheal
Esophageal
Renal
Limb
73
Q

Segmental dilation of the intrahepatic bile ducts
Recurrent stone formation
Bacterial cholangitis

A

Caroli disease

74
Q

Name syndrome and lab finding:

Cirrhosis
pancreatic fibrosis
hypogonadotrophic hypogoandism
Cardiomyopathy
Bronze skin
A

Hemochromatosis , HFE on 6p21.3 with C282Y or H63D mutation
AR
Low hepcidin

Hepcidin degrades ferroportin (an iron chanel needed for Fe absoprtion)

75
Q

Name syndrome and lab finding:

neuropsychiatric disease
hemolysis
kayser-Fleischer rings
Liver bx: glycogenated nuclei with steatosis and inflammation –> cirrhosis

A

Wilsons, AR
ATP7B - allows for copper to bind to Ceruloplasmin

Serum LOW ceruloplasmin and Copper
Urine High ceruloplasmin

Unbound ceruloplasmin is unstable and quickly degraded.

76
Q

Mildly elevated unconjugated bili

Mutation of the 5 TATA box of the promotor UGT1A1 leading to deficient bilirubin glucuronosyltransferase

A

Gilberts

77
Q

Elevated unconjugated bili

No glucuronosyltransferase activity? if <10?

A

Type 1 Crigler Najjar

Type 2 Crigler Najjar has about 10%

78
Q

Elevated conjugated bili
Mutation in the MRP2 gene
Black but normal liver

A

Dubin Johnson

79
Q

Elevated conjugated bili

A

Rotor

80
Q

Name syndrome, gene and mutation

Meconium ileum
Nasal polyps
Male infertility caused by the congenitl bilateral absence of the vas deference
Biliary obstruction --> liver disease
Bronchitis and Pneumonia
A

Cystic Fibrosis
AR
CFTR on chrom 7q31.2
F508 mutation in 66%

81
Q

AD
pancreatitis and marrow failure
chromosomal breakage syndrome affecting mitochondrial DNA
Marrow shows sideroblastic anemia with vacuolization

A

Pearson syndrome

82
Q 
AR
Exocrine pancreatic insufficiency (Fatty metamorphosis)
Aplastic anemia
short stature
reticular dysgenesis
SBDS (7q21)
A

Shwachman-Diamond syndrome

83
Q

Mutation in the MAPT gene that encodes microtuble associated protein tau leads to

A

Familial Pick Disease aka Frontotemporal demntia with parkinsonism

84
Q

mutation in the amyloid precursor protein on chrom 21 leads to ?

A

Alzheimer disease

85
Q

Late or usual Alzhemier disease is associated with?

A

E4 allele of the APOE gene

86
Q

> 40 copies of the CAG repeat in the HTT gene on 4p causes?

A

Huntingtons disease

87
Q

Migraine headaches with TIA
Progress to dementia
MRI: hyperintense lesion in the periventircular white matter
Vessels show granular eosinophilic medial deposits

A

Cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL)

88
Q

AD peripheral neuropathy
duplication of 1.5Mb region of DNA on 17p12 containing PMP22 gene
BX: prominent onion bulb formation

A

Charcot Marie Tooth

89
Q 
X linked Recessive
calf hypertrophy
onset before 5
cardiomyopathy
Bx: scattered hypereosinophilc small rounded fibers with negative staining with dystrophin
A

Duchenne muscular dystrophy

DMD Xp21

90
Q

Muscular dystrophy with AD trinucloetide repeat disorder

A

Myotonic muscular dystrophy MMD

91
Q

Name syndrome

Large for gestational age
Polyhydramnios
Omphalocele
Organomegaly
Renal/adrenal anomalies
Wilms
Hepatoblastoma
A

Beckwith-Wiedmann syndrome chrom 11

Pathology (16 decks)

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