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Syndromes Flashcards

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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
McCune Albright Synd: Triad?
- Café au lait skin pigmentation - Polyostotic fibrous dysplasia - Hyperfunctioning endocrinopathies - Cases precocious puberty - hyperthyroidism - GH excess - Cushing syndrome - follicular thyroid carcinoma - PTC
26
Mazabraud Synd:
- Multiple cutaneous or IM myxomas | - Polyostotic fibrous dysplasia
27
Basal cell nevus syndrome, Gorlin Synd: Mutation? inheritance?
AD Germline mutations of PTCH gene (chromosome 9q22.3): SONIC HEDGEHOG (SSH) PATHWAY
28
Basal cell nevus syndrome, Gorlin Synd: Assoc.? Skin Soft tissue Bone Brain:
- 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
29
Li-Fraumeni Syn: mutation?
p53
30
Li-Fraumeni Syn: assoc?
osteosarcoma (1000x risk) medulloblastoma Unusual thyroid follicular cell tumors with marked nuclear pleomorphism
31
Carney’s Synd.:
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)
32
Carney’s Triad:
Multiple GIST (with SDH mutation) Functioning, extra-adrenal paraganglioma Pulmonary chondromas
33
Carney Complex: Mutation? inheritance?
AD | PRKAR1A mutation on Ch 17q
34
Cowden dz: Mutation? inheritance?
PTEN mutation, 10q | AD
35
Cowden: Tumors? Brain Breast Thyroid Uterus Soft tissue Skin Malformation
- 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
36
Ataxia telangiectasia:mutation?
ATM, chrom 11
37
Ataxia telangiectasia:assoc?
``` 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
BRCA-1
``` 17q21, Tumor suppressor gene Medullary breast cancer Colon Ovary Prostate ```
39
BRCA-2
``` 13q12-13 Possible role in DNA repair Male breast Pancreas Ovary Prostate ```
40
Lynch Synd (hereditary nonpolyposis colorectal cancer, HNPCC, Synd): Mutation? inheritance?
AD Caused by defects in DNA mismatch repair (MMR) gene MLH-1, MSH-2, MSH-6, PMS-2
41
Lynch Synd (hereditary nonpolyposis colorectal cancer, HNPCC, Synd): Lesions?
- 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
Klinefelter Syndrome
Leydig cell tumors
43
Autosomal Dominant Polycystic Kidney Disease (ADPKD): Mutation? inheritance?
AD | Mutations in genes PKD1 (in Ch16) and PKD2 (in Ch4); affecting polycystin-1 and polycystin-2
44
Autosomal Dominant Polycystic Kidney Disease (ADPKD): Lesions?
``` Multiple renal cysts Liver cysts (50%) (no dysfxn) Pancreatic cysts Cardiac valve abnormalities, MVP (~25%) Berry aneurysms (5-8% ```
45
Wiskott-Aldrich Syndrome:
``` Dense granule disorder X-linked defects in WASP gene Increased IgE Triad: - Thrombocytopenia with small platelets - Eczema - Immunodeficiency ```
46
Birt-Hogg-Dube Syn
``` 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
Muir-Torre Syn
Tumors: - Sebaceous neoplasms: - Well differentiated sebaceous carcinoma - Sebaceous adenomas - Higher risk of other hereditary nonpolypopsis CRC-related tumors
48
Peutz-Jeghers Syndrome Oral: GI: Malignancies of the:
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
WAGR Synd. (WT-1) How is it acquired? Stands for?
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
Denys-Drash Synd
Germline mutation in the zinc-finger region of WT1 protein ``` Assoc with: Male pseudohermaphroditism Diffuse mesangial sclerosis Tumors: Wilms tumor (Nephroblastoma) Gonadoblastoma ```
51
Fanconi anemia Skeletal: Heme: Population:
AR Chromosomal breakage syndrome Absent thumb, microcephaly Macrocytic anemia --> pancytopenia AML (600x) MDS (5,000x) elevated Hb F South Africans
52
MEN1 (Wermer syndrome)
AD Chrom 11, MEN1 gene ``` Pituitary adenoma (majority are prolactinoma) Hyper parathyroid Pancreatic endocrine tumor ( gastrinoma->ZE ,> insulinoma > glucagonoma) ```
53
Juvenile polyposis
SMAD4/DPC4 (40%) Increased risk of CRC ``` Associated: Hydrocephalus Pulm AVM Cleft palate Polydactyl Meckels Malrotation ```
54
Alpha 1 antitrypsin disease
SERPINA (SERPINC1 is antithrombin deficiency) Chromosome 14 AR PiZZ is the abnormal genotype PiMM is the normal
55
Men 2a (Sipple syndrome)
MTC Pheo Parathyroid adenoma/hyperplasia RET 10q12 EXON 10 & 11
56
MEN2B
``` MTC pheo Mucosal neuromas "Marfanoid" body Medullated corneal nerve fibers Ganglioneuromatosis ``` RET 10q12 EXON 16
57
Familial paraganlioma
SDH Succinate Dehyrdrogenase
58
Alports
COL4A5, Xp22.3 a5 chain of type 4 collagen Glomerulonephritis, Ocular lesions, sensorinueral hearing loss
59
Name syndrome Healthy young men, sudden death during sleep Southeast asia Mutation in SCN5A
Brugada syndrome 8 mutations in total SCN5A, GPD1L, CACNA1C and others
60
Name syndrome Healthy young men, sudden death during physical activity Fibrous and fatty replacement of the right ventricle
Arrhtymogenic right ventricular dysplasia
61
Whats that gene/chrom ``` Long QT Exercise triggered (especially swimming) ```
LQT1 on 11p15.5 - most common QT
62
Whats that gene/chrom Long QT Auditory stimulus or emotional stimmulus triggered arrhythmias
LQT2 on 7q35-36
63
Name the syndrome and mutation Healthy young men, sudden death during physical activity Heart shows hypertrophy with disproportionate thickening of the ventricular septum
Hypertrophic cardiomyopathy : MYH7 AD MYH7 also seen in AD dilated cardiomyopathy
64
Pulmonic stenosis Right sided heart defects prolonged coagulations PTPN11
Noonan syndrome
65
``` Cholestasis in the neonatal period Bile duct paucity Heart defects: Pulm artery stenosis, Tetraology, ASD, VSD Facial dysmporphism Butterfly vertebrae JAG1 AD ```
Alagille syndrome
66
Trisomy 21: name the heart defect
malformation of the endocardial cushion resulting in the membranous VSD
67
Biscuspid aorta Coarctation of aorta lymphangioma shield chest
Turner 45 X
68
Males with hypogonadotropic hypogonadism anosmia Xp22.3, KAL1 gene
Kallmann syndrome
69
Hirschprung disease seen in
Trisomy 21 NF1 MEN 2A
70
``` Epistaxis in children Skin lesions in adolescence GI bleed in adults AD ENG gene or ACVRL1 gene ```
Osler-Weber-Rendu syndrome | hereditary hemorrhagic telangiectasia
71
``` Malabsorption in neonates Paper thin wall of the small bowel Villus blunting mucosal atrophy Apical intracellular inclusions (PAS +) AR ```
Microvillus Inclusion Disease
72
VACTERL stands for
``` Vertebral Anal Cardiac Tracheal Esophageal Renal Limb ```
73
Segmental dilation of the intrahepatic bile ducts Recurrent stone formation Bacterial cholangitis
Caroli disease
74
Name syndrome and lab finding: ``` Cirrhosis pancreatic fibrosis hypogonadotrophic hypogoandism Cardiomyopathy Bronze skin ```
Hemochromatosis , HFE on 6p21.3 with C282Y or H63D mutation AR Low hepcidin Hepcidin degrades ferroportin (an iron chanel needed for Fe absoprtion)
75
Name syndrome and lab finding: neuropsychiatric disease hemolysis kayser-Fleischer rings Liver bx: glycogenated nuclei with steatosis and inflammation --> cirrhosis
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
Mildly elevated unconjugated bili | Mutation of the 5 TATA box of the promotor UGT1A1 leading to deficient bilirubin glucuronosyltransferase
Gilberts
77
Elevated unconjugated bili | No glucuronosyltransferase activity? if <10?
Type 1 Crigler Najjar | Type 2 Crigler Najjar has about 10%
78
Elevated conjugated bili Mutation in the MRP2 gene Black but normal liver
Dubin Johnson
79
Elevated conjugated bili
Rotor
80
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 ```
Cystic Fibrosis AR CFTR on chrom 7q31.2 F508 mutation in 66%
81
AD pancreatitis and marrow failure chromosomal breakage syndrome affecting mitochondrial DNA Marrow shows sideroblastic anemia with vacuolization
Pearson syndrome
82
``` AR Exocrine pancreatic insufficiency (Fatty metamorphosis) Aplastic anemia short stature reticular dysgenesis SBDS (7q21) ```
Shwachman-Diamond syndrome
83
Mutation in the MAPT gene that encodes microtuble associated protein tau leads to
Familial Pick Disease aka Frontotemporal demntia with parkinsonism
84
mutation in the amyloid precursor protein on chrom 21 leads to ?
Alzheimer disease
85
Late or usual Alzhemier disease is associated with?
E4 allele of the APOE gene
86
> 40 copies of the CAG repeat in the HTT gene on 4p causes?
Huntingtons disease
87
Migraine headaches with TIA Progress to dementia MRI: hyperintense lesion in the periventircular white matter Vessels show granular eosinophilic medial deposits
Cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL)
88
AD peripheral neuropathy duplication of 1.5Mb region of DNA on 17p12 containing PMP22 gene BX: prominent onion bulb formation
Charcot Marie Tooth
89
``` X linked Recessive calf hypertrophy onset before 5 cardiomyopathy Bx: scattered hypereosinophilc small rounded fibers with negative staining with dystrophin ```
Duchenne muscular dystrophy | DMD Xp21
90
Muscular dystrophy with AD trinucloetide repeat disorder
Myotonic muscular dystrophy MMD
91
Name syndrome ``` Large for gestational age Polyhydramnios Omphalocele Organomegaly Renal/adrenal anomalies Wilms Hepatoblastoma ```
Beckwith-Wiedmann syndrome chrom 11

Pathology (16 decks)

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