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