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73 Cards in this Set

  • Front
  • Back
what is gaucher disease
glycolipid storage disorder with deficiency in beta-glucosidase with accumulation of glucocerebroside in cellular lysosomes. Most common genetic lysosomal storage disorder; macrophages with wrinkled tissue paper appearance to cytoplasm
what makes unfavorable histology for wilms tumor
anaplasia (enlarged nuclei 3x tumor nuclei; atypical mits)
what is cystic, partially differentiated nephroblastoma (CPDN) and how different from cystic wilms tumor?
gross identification of solid nodules wihtin cystic neoplasm is cystic wilms vs. microscopically identified (CPDN)
wt1 location
chromosome: 11p13
wt2 location
chromosome 11p15
syndromes associated with wilms
WAGR (wilms, aniridia, growth retardation); Denys-Drash syndrome (Wilms, mesangial sclerosis, gonadal dysgenesis); Beckwith-Wiedemann (Wilms, organomegaly, hemihypertrophy of extremitis, omphalocele), Simpson-Golabi-Behmel (Wilms, facial overgrwoth, congenital anomalies)
factors that alter wilms tumor therapy
age (less than two often less aggressive), stage, anaplasia, accompanying syndromes (more aggressive) and adjacent nephrogenic rests/bilaterality
histologic description of hashimoto thyroiditis
atrophic/small follicles with metaplastic hurthle cells; lymphs and germinal centers, fibrous septa: note: use lymphocytic thyroiditis if lack hurthle cell change
what is riedel thyroiditis
fibrosis of thyroid with extension to surrounding tissues
histologic description of graves
prominent germinal centers, follices are tall, hyperplastic and have scalloped colloid
antibodies commonly seen in hashimoto's
anti-TG and anti TPO (thyroid peroxidase)
does HPV16+ in a head and neck SCC mean better or worse prognosis
better
Carney complex
cardiac and extra-cardiac myxomas, spotty skin pigmentation, endocrinopathy, autosomal dominant; older terms: LAMB, NAME
Carney complex mutations
PRKAR1A or MYH8
IHC for myxomas
S100, vimentin, actin, desmin with variable endothelial markers (CD31, CD34)
IHC/flow for hairy cell leukemia
CD20, CD22 and CD11c
CD103, CD25, CD123, DBA.44
TRAP+
most common estrogen producing ovarian tumor
adult granulosa cell tumor
what are call-exner bodies
hallmark of the microfollicular pattern of adult granulosa cell tumor, microcystic spaces with deeply eosinophilc basal lamina material
ihc for adult granulosa cell tumor
calretinin and inhibin; WT1 (nuclear) and CD99
subtypes of osteosarcoma
chondroblastic, fibroblastic, osteoblastic - interestingly if very malignant looking chondroid, consider this over dedifferentiated chondrosarcoma or mesenchymal chondrosarcoma
results of prognostic markers in lobular carcinoma of breast
ER+, PR+, her2- (true of pleomorphic variant as well)
special marker for pleomorphic lobular ca of breast
GCDFP15
site of e-cadherin (czome)
16q22.1
4 molecular alterations in either endometrial ca of ovary or uterus
PTEN, beta-catenin, KRAS, microsatellite instability
recall grade for endometrial ca (FIGO grade 1, 2, and 3)
1: <5% solid, 2: 5-50; 3: >50%
4 positive markers for endometrial ca
CK7, EMA, ER, PR
carcinoid
Synapto (strongly sensitive), Chromo (strongly specific), Leu7, NCAM
Histologic features of chronic villitis
definited as: lymphocytes, plasma cells. may also have histiocytes, villous stromal necrosis, fibrosis and calc. +/- focal acute inflammation
TORCH organisms
toxo, other (HIV, zoster, syphilis), Rubella, CMV, HSV
specific histologic feature for syphilis related chronic villitis
onion skinning of vessels (along with hypercellular villi)
where can s100 be found
Obvious: melanomas, neuroendocrine, LCH
Less obvious: sustenacular cells of paragangliomas, cartilage, breast, myoepithelial cells
genetics behind FAP
autosomal dominant, germline, APC,
czome location for FAP
5q21
other lesions found in FAP patients
gastric and duodenal polyps (including FGP and adenomas); congenital hypertrophy of the retinal pigment epithelium; dental abnormalities, osteomas, desmoid-type fibromatosis
What risk of malignancy (besides colorectal ca) are FAP patients at risk for
thyroid (most notably - cribriform-morular variant of papillary ca), hepatoblastoma (***), brain, ampullary (***), duodenal (***), pancreatic, nasopharyngeal angiofibroma
what is gardner's syndrome
associated adenomatous polyposis with prominent skin and st lesion (osteomas, epidermal cysts, lipomas, fibromatosis)
what is turcot syndrome
association of adenomatous polyposis and a brain tumor (most commonly medulloblastoma, ependymoma or anaplastic astrocytoma)
what is apc
tumor suppressor gene, modulating wnt pathway and regulating the degradation of beta-catenin. (mutations allow for more beta-catenin)
what does beta catenin bind to
e cadherin
what is attenuated FAP clinically and genetically
clinically: few adenomas (<100), more proximal, delayed age onset, lack family history.lack extraintestinal manifestations. Genetically: most proximal or distal mutations
MYH gene
base excision repair gene on 1p, responsible for preventing mutations by oxidative injury
deal on MYH-associated polyposis
milder phenotype, autosomal recessive
Genetics of Juvenile polyposis syndrome
autosomal dominant, germline, SMAD4 or BMPR1A; various criteria but generally 5 or more JP
systemic manifestations of juvenile polyposis
hypertelorism, macrocephaly, hydrocephalus, cardiac anomalies, hereditary hemorrhagic telangiectasia (Osler-weber-Rendu syndrome)
what is Osler-Weber-Rendu syndrome and what are the genetic mutations
hereditary hemorhagic telangiectasia; mutations in SMAD4 or ENG (endoglin)
Syndromes in which JP syndrome can be associated
Osler-Weber-Rendu; Bannayan-Riley-Ruvalcaba, Cowden, Gorlin, Cronkhite-Canda, Proteus
Two syndromes caused by PTEN mutations
Cowden and Bannayan-Riley-Ruvalcaba
what is bannayan-Riley-Ruvalcab syndrome (clinically)
macrocephaly, MR and genital pigmented macules
What is cowden's syndrome (Clinically)
facial trichilemmomas, acral keratoses, mucosal lesions, macrocephaly and increased risk of breast or thyroid ca
What is Gorlin syndrome clinically and what is an alternative name
basal cell nevoid syndrome, mutliple BCCs, palmar pits, calcification of cerebral falx and rib anomalies
what is Cronkhite-Canada syndrome clinically
polyposis syndrome in adults associated with JPs in GI tract, HPs in stomach, severe malabsorption and hypoproteinemia. Other manifestations are: alopecia, onychodystrophy, macular skin lesions
what is Proteus syndrome
rare congenital hamartomatous disorder with hemihypertrophy, gigantism of extremities, nevia, angiomas and lipomas
what is Peutz-Jeghers syndrome genetically
Hamartomatous polyposis syndrome with autosomal dominant germline mutation in the serine-threonine kinase tumor suppressor gene (STK11/LKB1) on 19p13.3
what is Peutz-Jeghers syndrome clinically
hamartomatous polyps most in SI, also oral pigmented macules, increased risk of ca (breat, pancreatic, SCTAT, calcifying Sertoli cell, adenoma malignum of uterus), similar polyps can be seen in TS
What do tuberous sclerosis polyps look like
liek Peutz-Jergher polyps
what is lynch syndrome clinically
associated with early onset colorectal ca and increased incidence of extraintestinal tumors (endometrial, gastric, urinary tract, ovarian, SI, brain and sebaceous tumors)
what non colonic tumors can you see in lynch syndrome (7)
endometrial, gastric, urinary tract, ovarian, SI, brain and sebaceous tumors
what genetic mutation is found in lynch (4)
mutation in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2)
lab findings in fibrolamellar carcinoma
elevated serum des-carboxy prothrombin, neurotensin and vit B12-binding protein (best for monitoring recurrence)
three histologic criteria for fibrolamella HCC
large polygonal tumor cells, prominent macronucleoli, lamella fibrosis
pale bodies in fibrolamellar HCC are caused by
fibrinogen or albumin
ihc for fibrolamellar HCC (4)
HepPar1+, pCEA (canalicular),+, CK7+, glypican3+(some)
where and in what population does medullary ca of colon occur
older woman, right side
is the prognosis of medullary ca of colon better or worse than conventional adenoca
better
4 genetic mutations that arise in medullary ca of coln
MSI - mlh1, msh2, pms2, msh6 (most common is hypermethylation of mlh1) - ihc detects loss of proteins; note also: calretinin is positive by IHC in medullary ca
where do you find cutaneous angiosarcomas most (2 groups)
1. scalp/forehead of elderly (most common)
2. skin of breast about two years post radiation for ca
ihc for angiosarcoma (3)
CD31, CD34 and FLI1
what 5 lesions can occur in maffucci syndrome
enchondromasa, chondrosarcomas, spindle cell hemangiomas, angiosarcomas, spindle cell hemangioma
what marker is rather specific for Kaposi's sarcoma
HHV8 latency associated nuclear antigen (LANA)
where and in whom is Kaposi's most commonly found
elderly men, legs, often in associated with immunosuppression or AIDS
can ck expression occur in angiosarcomas?
yes, LMW and particularly when epithelioid features
what three syndromes has adrenal cortical carcinomas been associated with
Li Fraumeni, Beckwith-Wiedemann and congenital adrenal hyperplasia
what is the molecular mutation in Li Fraumeni syndrome
mutation in p53 at 17p3