AP Questions Part 3 Flashcards
What do each of these classifications of dissecting aortic aneurysm entail?
A) Stanford A
B) Stanford B
C) DeBakey I
D) DeBakey II
E) DeBakey IIIA
F) DeBakey IIIB
A) ascending +/- descending
B) descending
C) ascending and descending
D) ascending
E) descending, extends proximal and distal
F) descending, extends distal
What is the mutation associated with a) AML and b) CML?
A) 15;17 most common, but
8;21 RUNX1 (good prognosis) vs inv3, t(3;3) or t(6,9) poor prognosis
B) 9;22 BCR-ABL1
How do muscle cells differ in atrophy patterns in neurogenic atrophy vs myopathies?
Neurogenic: early polygonal atrophy, nuclear clumping, grouped
Myopathy: round atrophy mixed with hypertrophy, scattered, necrosis/fibrosis, increased nuclei
What are the pertinent IHC for basaloid SCC?
UEA-1+, AE1/3+
But Ber-EP4-, MOC-31-
(Unlike BCC)
What mutation and what variant of PTC is seen with FAP?
APC mutation, cribriform morular variant (which histologically has squamoid metaplasia)
*APC mutation is also in Gardner’s and Turcot
What defines the following categories of AML, NOS: 1) AML with minimal differentiation 2) AML without maturation 3) AML with maturation?
1) <3% of blasts stain for Sudan black or MPO
2) >3% of blasts stain for Sudan black or MPO, <10% granulocytes
3) granulocytes >=10% of blast cells
What mutation is seen in a) adamantinomatous craniopharyngioma and b) papillary craniopharyngioma?
A) beta-catenin
B) BRAFV600E
What mutation is seen in pilocytic astrocytoma, and what IHC is positive?
KIAA1549::BRAF
GFAP+, Olig2+, SOX10+
What is CD5 and CD10 in marginal zone B cell lymphoma?
CD5-, CD10-
What is the difference between dermatofibroma and DFSP?
DFSP is CD34+ and infiltrates adipose tissue
Dermatofibroma is factor XIIIa+
What is Meigs syndrome?
Ovarian fibroma, ascites, right pleural effusion
What is the most common mutation in a) lung adenocarcinomas and specifically mucinous? B) micropapillary lung? C) solid/cribriform with signet cell features?
a) KRAS
B) EGFR
C) ROS1 and ALK
What is the thymoma classification (A, B1, B2, B3, AB, C)?
A: spindled
B1: epitheloid < lymphocytes
B2: epithelioid = lymphocytes
B3: epitheloid > lymphocytes
AB: spindled + lymphocytes
C: carcinoma
What IHC stains for fibromatosis / what part of the cell?
Nuclear beta-catenin
What mutation is seen in In Fragile X Syndrome?
FMR1 methylation from CGG trinucleotide repeat
(Fragile Male)
What excess cell type does granular cell tumor contain? Oncocytoma?
GCC: lysosomes
Onco: mitochondria
What tumors are most specific for calretinin+, inhibin+, melanA+?
Adrenal cortical tumors
What is the specimen type reccommended for urothelial carcinoma DNA ploidy analysis and how should it be collected?
Bladder washings (barbatoge)
Second void of day, 30 mL, delivered within 12 hrs (>12: fix in ethanol)
How to distinguish squamoid eccrine ductal carcinoma from SCC on IHC?
CEA+, EMA+ (typically + in glandular tissue like Adnexal, not squamous), p63
What are the most common materials used as a bullet’s primer (3)? Cartridge?
Bullet: BAL: barium, antimony, and lead
Cartridge: brass (alloy of zinc and copper)
What do you see in histology for gynecomastia?
DUCTAL proliferation with prominent rims of edematous stroma
What is seen on histology with diabetic mastopathy?
Fibrotic/sclerotic stroma and lymphocytic infiltrate of blood vessels and lobules
What are the 3 hormonal breast marker findings in invasive lobular breast carcinoma?
ER+, PR+, Her2- (also E-cad-)
What is the IHC staining for fibromatosis (beta catenin, CD-34, SMA)? How to differentiate from fibromatosis-like metaplastic carcinoma?
Beta-catenin+, CD34-, SMA+
Cytokeratins+ in metaplastic carcinoma
What percentages qualify “MDS with single or multi lineage dysplasia” vs “MDS with excess blasts 1” vs “MDS with excess blasts 2”?
A) blasts in peripheral blood
B) blasts in bone marrow
A) <1% vs 2-4% vs 5-19%
B) <5% vs 5-9% vs 10-19%
What ringed sideroblast percentage/mutation qualifies “MDS with ringed sideroblasts, single lineage dysplasia” vs “MDS with single lineage dysplasia?
> =15% ringed sideroblasts, or >=5% if SF3B1 mutation is present
What tumor is the mutation NR4A3-EWS found in?
Extraskeletal myxoid chondrosarcoma
When is expedited treatment (going straight from cytology/HPV screening to treatment/excision without colposcopy) recommended?
Non-pregnant patients 25+ years old that have HPV+ HSIL, high risk HPV+ patients who have rarely /never screened, or immediate risk of CIN3+ is >60%
What is the defining cell type to remember for each of the following inflammatory lymph node diseases?
A) Cat scratch disease
B) Toxoplasmosis
C) kikuchi’s syndrome
D) Kimura’s disease
E) autoimmune lymphoproliferative syndrome
A) necrosis/neutrophils
B) epithelioid histiocytes
C) necrosis/histiocytes with crescent shaped nuclei
D) eosinophils
E) plasma cells
What type of genetic changes is Comparative genomic hybridization useful for and how does it work?
Gain or loss of DNA
Reference DNA is fluorescently labeled one color, test subject DNA is labeled another color. If signal from test DNA is stronger/same color, it means gain of DNA. If signal from reference DNA is stronger, loss of DNA.
What are the main differences between parosteal and periosteal osteosarcoma?(grade, location)
Parosteal: low grade, metaphysis on back of knee
Periosteal: intermediate/high grade, diaphysis of femur/tibia
How do you calculate, a) MCV b) MCH c) MCHC?
a) MCV = Hct / RBC count
b) MCH = Hgb / RBC count
c) MCHC = Hgb / Hct x 100
What is the mutation associated with MALT lymphoma?
API2-MLT
Which IHC marker is most commonly positive in mycosis fungoides?
CD4
What is salpingitis isthmica nodosa and what do you see on histology?
Diverticular disease of the Fallopian tube associated with infertility, ectopic pregnancy
- see smooth muscle hypertrophy / fibrous tissue and underlying normal glandular epithelium
What is the most common glycogen storage disease and what is deficient?
Von Gierke’s disease, glucose-6-phosphatase deficiency
(Hypoglycemia, lactic acidosis, hyperlipidemia, hyperuricemia)
What is a hierarchical database vs a flat file database vs a relational database?
Hierarchical: parent-child tree-like model
Flat file: single table without primary key (ie spreadsheet)
Relationship: most widely used, data in tables and each row has unique primary key, can relate to another table through key
What are two IHC that are positive in endometriosis? What mutations are common in endometriosis associated with clear cell carcinoma?
CD10+, IFITM1+
ARID1A, ER, PR mutation with their loss
How do the following stain for CD5, CD10, CD23?
A) mantle cell lymphoma
B) CLL
C) follicular lymphoma
A) CD5+
B) CD5+, CD23+
C) CD10+
What 4 stains are positive for Ewing sarcoma/PNET and what is the mutation?
CD99+, NSE+, SYN+, PAS+
11;22 FLI1-EWS mut
What is the difference in IHC between primary Paget’s disease and secondary Paget’s (with underlying carcinoma)?
Primary: GCDFP+, CK20-
Secondary: GCDFP-, CK20+
(Note: Both are CK7+ while SCC is CK7-, CK5+)
What is the most common form of glomerulonephritis?
IgA nephropathy (Berger disease)
What mutation is most commonly seen in a) invasive PTC, follicular type and b) noninvasive PTC, follicular type?
A) BRAF
B) RAS
Spindle cell lesion that is CD117+, DOG1+, CD34+, vimentin+? What is the treatment?
GIST
Tyrosine kinase inhibitors, ie Gleevec
What mutation is seen with hereditary leiomyomatosis and renal cell cancer? What is the inheritance?
Fumarate hydratase, autosomal dominant
(Reed’s syndrome)
What conditions are fundic gland polyps associated with? What is mutated?
FAP, Zollinger-Ellison syndrome, tuberous sclerosis, PPI use
Beta catenin (APC)
What stain is positive in angiomyolipoma?
HMB45
What tumors have TFE3 rearrangement?
Alveolar soft part sarcoma, PEComa, MiT family RCC, epithelioid hemangioendothelioma
What 2 conditions is follicular cervicitis most commonly associated with?
Chlamydia infection, post-menopausal atrophy
What 3 mutations are most common in GIST?
KIT, PDGFRA, and SDH-deficient (last is most common in Carney syndrome)
What mutation is common in epithelioid hemangioma?
FOS/FOSB
A) What kind of placental membrane most commonly leads to twin twin transfusion syndrome?
B) What kind has highest rate of twin loss?
A) Monochorionic diamniotic
B) mono mono
Which of the following systems are for EMR transfers, medical terms, imaging, lab data:
A) SNOMED
B) LOINC
C) DICOM
D) HL7
A) medical terms
B) lab data
C) imaging
D) EMR
What’s the difference between an f test, t test, and chi square test?
F test measures variability between 2 tests/treatments(F for fluctuation)
T test examines difference between means of 2 groups
chi square test measures categorical variables (not numerical)
What syndrome encompasses hemihypertrophy, macroglossia, hypoglycemia, and “blastomas” of childhood?
Beckwith-Wiedemann syndrome
What syndrome encompasses Wilms tumor, gonadal dysgenesis/gonadal blastoma, and nephropathy from diffuse mesangial sclerosis, and what mutation is seen?
Denys-Drash syndrome
WT-1 mutation
What does WAGR syndrome entail?
WT-1/Wilms tumor
Aniridia
GU malformation
Retardation
Which of the 4 classic melanocytic markers are positive in granular cell tumor?
S100+, SOX10+
(melanA and HMB45 are negative)
What mutation is seen in mesenchymal chondrosarcoma?
HEY1-NCOA2
(“HEY” stop “mesen” with my “COA”L)
ChondrOsarcomA)
What mutation do tropomyosin kinase inhibitors target, and what are some examples of tumors with those mutations?
ETV6-NTRK
Congenital infantile fibrosarcoma, congenital mesoblastic nephroma, AML, glioblastoma, some lung and breast cancers
What 2 conditions besides Kaposi sarcoma is HHV-8 associated with?
Primary effusion lymphoma (also with EBV), multicentric Castleman’s disease
Positive DAT (direct antiglobulin test) indicates what anemia?
Autoimmune hemolytic anemia
What 3 conditions present with sinusoidal lymphocytosis?
EBV, hep C with mixed cryoglobulinemia (plus granulomas), hepatosplenic T cell lymphoma (plus atypia)
What blood disorder has ITGB2 (CD18) mutation and presents with chronic neutrophilia but no neutrophils at the site of infection? What is the inheritance?
Leukocyte adhesion molecule deficiency, autosomal recessive
What 5 sarcomas spread through lymphatics?
Rhabdomyosarcoma
Clear cell sarcoma
Angiosarcoma
Synovial sarcoma
Epithelioid sarcoma
What is the difference in IHC between fibrosarcoma and synovial sarcoma?
FS: p53, vimentin, collagen, reticulin+
SS: TLE+, CK7+
What hemoglobin disease is:
A) 2 alpha and 2 gamma subunits
B) four beta subunits
C) four gamma subunits
A) HbF
B) HbH (alpha thalassemia)
C) Hb Barts (alpha thalassemia)
What mutation is seen in desmoid fibromatosis?
CTNNB1
What mutations are common in endometrioid carcinoma? What are risk factors?
PTEN, microsatellite instability
Estrogen exposure (nulliparity, obesity), caucasians, hyperplastic endometrium
What mutation is common in serous and clear cell endometrial carcinoma? What population?
P53
Black, thinner, multiparity, atrophy
What mutations are common in SSA?
BRAF, DNA hypermethylation, MSI instability
What finding is associated with worse prognosis in follicular lymphoma?
High beta-2 microglobulin
What is the correct sequence of hemoglobin on a) alkaline gel and b) acid gel?
A) + AFSC- (“alkaline Academy of Forensic SCIences)
B) +CSAF-
What is the most common pediatric testicular tumor?
Yolk sac tumor
What are the 3 tumor grades for teratoma of a) ovarian and b) testicular?
A) immature: grade 1, 2, and 3 with increasing amount of immature neuroectoderm
B) prepubertal, postpubertal (c12p amplification and germ cell neoplasia in situ) and termatoma with somatic type malignancy
What type of cells in a Pap smear are increased for a) newborns and b) lactation?
A) intermediate cells (because of progesterone from mother)
B) parabasal cells (atrophic state)
What is “Rosen’s triad” of the breast?
Tubular carcinoma, LCIS, and columnar cell change/FEA
What is the common mutation of ameloblastoma?
BRAF V600E
How to differentiate basal cell carcinoma from basaloid SCC?
BCC: MOC31+, Ber-Ep4+, UEA1-
SCC: MOC31-, Ber-Ep4-, UEA1+
What are capital items?
Items that last at least a production cycle (1 year), meet a minimum price, and serve a purpose (ie computers)
What mutation is seen in aneurysmal bone cyst AND giant cell tumor of bone?
USP6-CDH11
What kind of pancreatic neoplasms (neuroendocrine, ductal, mucinous, serous) are associated with the following mutations?
A) RNF43
B) KRAS
C) VHL
D) tp53
A) mucinous (IPMNs, mucinous cystic neoplasms)
B) ductal
C) serous (cystic)
D) ductal and neuroendocrine
What is the cutoff size for papillary adenoma vs papillary RCC?
1.5 cm (only if grade 1 or 2)
Are these following levels increased or decreased in hemophagocytic lymphohistiocytosis:
A) CD25
B) NK cell activity
C) triglycerides
A) increased
B) decreased
C) increased
What 3 syndromes is angiofibroma (adenoma sebaceum) found in?
Tuberous sclerosis, Birt-Hogg-Dube, MEN1
What screening test is used for G6PD deficiency and what does it show?
Fluorescent spot test: decreased fluorescence at 340 nm from decreased NADPH
(As opposed to pyruvate kinase deficiency where there’s increased fluorescence)
How to differentiate leiomyoma and endometrial stromal nodule, histo and IHC?
Leiomyoma has thick-walled blood vessels and ES nodule has more of a proliferative endometrium stromal appearance
Leiomyoma: desmin+, caldesmon+
ES nodule: CD10+, beta-catenin+, CK+
What type of RCC has the worst prognosis?
Clear cell RCC
What mutation is associated with congenital nevus?
NRAS mutation
What do you see on histology for necrotizing sialometaplasia?
Squamous metaplasia of ducts, inflammation, coagulative necrosis of acini, pseudoepitheliomatous hyperplasia
What melanocytic tumor are kamino bodies (pink globules) seen in?
Spitz Nevus
What mutation is frequently seen in fetal type lung adenocarcinoma?
Beta catenin
What syndrome and what IHC is seen associated with clear cell RCC, clear cell variant of pancreatic neuroendocrine tumor, and endolymphatic sac tumor?
Von Hippel Lindau syndrome
CAIX expression
What mutation is seen with inflammatory myofibroblastic tumor? What disease is inflammatory pseudo tumor associated with?
IMT: ALK rearrangement
IPT: IgG-4 disease
What (DNA, RNA, or protein) are the following used on:
A) rtPCR
B) southern blot
C) western blot
D) northern blot
A) RNA
B) DNA
C) protein
D) RNA
What is the largest yeast organism?
Coccidioidomycosis (also contains multiple endospores)
What lymphoma is most commonly the cause of multiple lymphomatoid polyposis, and what is the IHC profile?
Mantle cell lymphoma
CD5, CD19/20, cyclin D1, and FMC-7
What is the mutation found in epithelioid hemangioendothelioma?
WWTR1-CAMTA1
What is the difference between endomyocardial fibrosis and endocardial fibroelastosis?
both are restrictive cardiomyopathies in kids
Endomyocardial fibrosis: more common in tropical areas, with hypereosinophilia
Endocardial fibroelastosis: no eosinophilia
What mutation is seen in endometrial stromal sarcoma?
JAZF-JJAZ1
(“ESS JAZZ!”)
What mutation is seen in tenosynovial giant cell tumor and what is it’s difference from giant cell tumor of soft parts?
CSF1
Is in joints/tendon sheets of fingers and often has foamy histiocytes, cholesterol clefts, more reactive change
What are the definitions of lupus nephritis classes I-VI?
I: normal on H&E(only see mesangial deposits in IF/EM)
II: mesangial proliferation
III: focal (<50%) endocapillary proliferation
IV: diffuse (>50%) endocapillary proliferation
V: membranous changes (subepithelial deposits, spikes)
VI: advanced glomerulosclerosis
What are the 2 most commonly seen lymphomas in HIV patients?
Diffuse large B cell lymphoma and Burkitt lymphoma
A) Cardiac fibromas and B) atrial myxomas are linked to what gene?
A) PTC
B) PRKAR1-alpha
What mutation is seen in a) arrythmogenic right ventricular hypertrophy and b) long QT syndrome ?
A) RyR2, aut dom
B) KCNQ1, aut dom
What are the 3 main types of sex cord stromal tumors?
Fibromas, thecomas, granulosa cell tumors
Tumor with epithelioid and spindled cells in myxoid/collagen PUA stroma, slow growing, with EMA+, pankeratin+, S100+, SMA+, diagnosis?
Myoepithelioma (unlike myxoma as well as malignant tumors, epithelial markers and keratin +)
What microorganisms are most likely responsible for infective endocarditis in person a) with no medical or social history b) with prosthetic valve?
A) HÁČEK organisms
B) s. Epidermidis
What mutation in paraganglioma is best predictor of malignant behavior?
SDHB (if hereditary! NF1, RET, etc are not as likely malignant and come from sporadic mutations)
Astrocytoma and PNETs - what syndrome?
Li-Fraumeni
What IHC is useful for differentiating trichoepitheliomas from basal cell carcinomas?
CD34 (+ stroma in trichoepitheliomas)
Name 3 IHC that express monocyte markers
CD11c, CD14, CD36, CD64
How to differentiate reactive urothelium from flat urothelial CIS by IHC?
Reactive: diffusely CD44+
CIS: diffusely CK20+, p53+
Primary effusion lymphoma is associated with what infectious agent?
HHV8 (is also called HHV8 associated large B cell lymphoma )
What are 2 lymphomas associated with hepatitis C?
Lymphoplasmacytic lymphoma and splenic marginal zone lymphoma
What viruses are most likely to infect the a) frontal/temporal lobe, b) ependymal lining of the ventricles?
A) herpes
B) CMV/VZV
What congenital disease is associated with autosomal recessive poly cystic kidney disease and what do you see histologically?
Congenital hepatic fibrosis: neonatal liver with fibrosis around portal reacts and dilatation of bile duct structures
What mutation in AML is associated with an adverse prognosis and what mutations with a favorable prognosis?
A) adverse: FLT3 (FLighT away)
B) favorable: NPM1, CEBPA
How to differentiate Wilms tumor and Desmoplastic small round cell tumor and Ewing’s sarcoma?
Wilms: has 3 types of cells(triphasic), WT1+
Ewings: WT1-, CD99+, 11;22 (also pseudorosettes aka cells around blood vessels)
Desmoplastic small round cell tumor: WT1+, CD99-
What type of amyloid is seen with long term dialysis, depositing in joint capsules and ligaments?
Beta-2-microglobulin
What histologic pattern of lung cancer is seen with ALK translocations?
Mucinous cribriform and/or signet ring cell, esp in non-smokers
What mutation is seen in Sturge Weber syndrome and what findings?
GNAQ
Macrocephaly and port-wine stain on face, angiomas
What mutation is seen with alpha-1-antitrypsin deficiency?
SERPINA
What mutations are seen with the a) adenoma-carcinoma sequence pathway and b) MSI pathway?
A) APC/beta-catenin ->KRAS/BRAF -> tp53, chromosomal instability, SMAD4
B) BRAF/CpG hypermethylation
*KRAS mutation means EGFR inhibitors won’t be effective
What other B/ST tumor occurs in the epiphysis besides giant cell tumor?
Chondroblastoma (immature chondroid cells in chondroid matrix, chicken wire calcifications)
What is pathognomonic for pancreatoblastoma?
Squamoid nests (within mostly acinar tumor)
What mutations are positive in Desmoplastic melanoma?
SOX10 and S100
What syndrome in a neonate is associated with pulmonic stenosis, vertebral body abnormalities, and paucity of intrahepatic bile ducts?
Alagille syndrome
What 2 features lend to poor prognosis of neuroblastoma?
Age >2 years, serum ferritin > 150
What mutation is associated with Crohn disease
CARD15/NOD2
CROhN
What is the most specific marker for synovial sarcoma? What mutation has a better prognosis?
TLE1
Better prog: SYT/SSX2 (1 is worst)
A) What two stains GENERALLY are looked at in germ cell tumors? what is rest of IHC profile of PLAP, OCT3/4, and CD30 for B) yolk sac tumor and C) embryonal carcinoma?
A) CK+, EMA-
B) PLAP+, OCT3/4-, CD30-
C) PLAP+, OCT3/4+, CD30+
PAX-8 is positive in what organs?
Thyroid, ALL kidney, mullerian system
How to differentiate BCC and trichoepithelioma?
Horn cysts in trichoepithelioma, more mitoses/apoptoses in BCC
BCC: BCL-2 diffuse+, CK20-
Trichoepithelioma:Bcl-2+ only in outermost layer, CK20+(many Merkel cells)
What types of germ cell tumors are present in prepubescent boys? What germ cell tumor metastasizes via hematogenous route?
Yolk sac tumor and teratoma
Hematogenous: choriocarcinoma
What IHC is positive in SFT?
STAT6, CD34
What is seen on histology of thyroid with amiodarone treatment?
Distended thyroid follicles filled with colloid and FOAMY macrophages
A) Where in pancreas is mucinous cystic neoplasms most commonly and what is the mutation?
B) where in pancreas is IPMN and what is the mutation?
A) Tail, KRAS (unique feature in MCN: ovarian stroma!)
B) head, GNAS
What mutation is associated with pilocytic astrocytoma?
BRAF
What is the target antigen in epidermolysis bullosa acquisita and bullous SLE?
Type VII collagen
What do thymomas stain for?
What about thymic carcinomas?
1) Epithelial cell markers (CK, 34BetaE12 which is HMWK, CAM5.2 Which is LMWK), p63, p40
2) T cell markers (CD3, CD1a, CD99, TdT)
Thymic carcinomas: CD5, KIT
What two mutations cause activation/loss of regulation of kinase activity of tyrosine kinases?
KIT, EGFR
What kind of molecular tests detect gains and deletions (not normally detected by standard sequencing assays?
Cytogenomic arrays (detect copy number changes)
What are the 4 minor criteria for systemic mastocytosis?
1) spindled appearance of >25% of mast cells
2)aberrant CD2/CD25 expression
3) increased tryptase
4) KIT mutation
*Need 3 fulfilled
Soap bubble appearance on radiology for bone tumor, think what disease? What is the mutation?
Aneurysmal bone cyst
USP6
What are 4 IHCs positive In Burkitt lymphoma?
CD10, CD20, bcl6, CD43
What 2 variants of penile SCC are most aggressive?
Basaloid and sarcomatoid
What age should colonoscopy begin for Lynch syndrome & how often should it be performed?
Age 20 (or 10 years before 1st diagnosis in family member) then every 2 years
What is the Most common translocation in endometrial stromal sarcoma?
JAZF1/SUZ12 fusion
What type of thyroid carcinoma is associated with Werner syndrome? With FAP?
Werner: anaplastic
FAP: papillary, cribriform morular variant
