Deck 1 Flashcards
Acquired factor deficiency in patients with systemic amyloidosis?
Factor X
McCune-Albright Syndrome and mutation?
Polyostotic fibrous dysplasia, cutaneous spots, and endocrinopathy. Mutation in GNAS1.
Viral cause of hemorrhagic cystitis?
Adenovirus type 11
Most common cause of traveler’s diarrhea?
ETEC
Most common cause of bacterial enteritis?
Campylobacter jejuni
What is a Phase II citation?
Requires documented corrective action within 30 days.
What is a Phase I citation?
Must be corrected by the next internal inspection.
What 3 groups of patients qualify for medicare?
- Age 65 and older
- Permanently disabled
- ESRD
What does medicare part A cover?
inpatient care excluding physician services
What does medicare part B cover?
Outpatient services and inpatient physician services
Technical charges for an inpatient are reimbursed under?
DRG
Causes daisy head orangophillic structures on Pap?
Tyrosine crystals of pleomorphic adenoma.
IHC profile of GI inflammatory polyps?
The spindle-shaped stromal cells are positive for CD34 and vimentin, while they are negative for CD117. A variable number are focally positive for smooth muscle actin and CD68.
MUC staining in intestinal adenomas?
MUC2 positive
MUC1 and MUC5ac negative
MUC staining in pancreatobililary adenocarcinomas?
MUC2 negative
MUC1 and MUC5ac positive
Recurrence rate for Pleomorphic Adenoma with positive margin?
Up to 1/3 of cases (old data), better now.
Poorly circumscribed dermal tumors composed of irregularly shaped islands and cords of basaloid cells that fit together like the pieces of a jigsaw puzzle.
Cylindromas
Adult classic seminomas, nonseminomatous, and mixed germ cell tumors are characterized by these two features?
intratubular germ cell neoplasia and i(12p).
IHC profile of medullary thyroid carcinoma?
- Thyroglobulin negative
- Calcitonin, carcinoembryonic antigen (CEA), chromogranin, synaptophysin, and thyroid transcription factor 1 (TTF-1).
What virus causes molluscum contagiousum and what is the inclusion called?
Pox-virus (molluscum contagiosum virus)
Henderson-Patterson bodies
What is the hallmark alteration in oligodendrogliomas?
Concurrent deletion of chromosomal arms 1p and 19q
Persistence of amyloid beyond 5 days is suggestive of?
Pancreatic Pseudocyst
Amylase or lipase is most specific for pancreatitis?
Lipase
Increased Amylase
Normal CEA
Increased CA 19-9
Indicative of which pancreatic cyst?
Pseudocyst
Decreased Amylase
Decreased CEA
Decreased CA 19-9
Indicative of which pancreatic cyst?
Serous cystadenoma or Solid pseudo papillary tumor
Normal Amylase
Increased CEA
Increased CA 19-9
Indicative of which pancreatic cyst?
Mutinous cystadenoma
Increased Amylase
Increased CEA
Normal to increased CA 19-9
Indicative of which pancreatic cyst?
IPMN
What are Heinz bodies and what stain is used to observe them?
- Denatured hemoglobin
- Supravital stains
How long must cytology slides retained?
5 years
Translocation observed in nodular fasciitis and aneurysmal bone cyst?
t(17;22) - MYH9-USP6
What stain is specific for infantile hemangioma?
GLUT-1
What is the most common post-radiation sarcoma?
Undifferentiated pleomorphic sarcoma
Alicia blue at pH 2.5 stains which cells?
Goblet cells
Microscopic colitidies are more prominent in which portions of the colon?
Right and transverse colon
Duret hemorrhages result from?
Uncal herniation
True or false: MelanA stains the adrenal cortex?
True
Characteristics of IgG and IgM in regards to complement fixation and hemolysis pattern?
IgM - readily fixes complement and result in intravascular hemolysis
IgG - doesn’t as readily fix complement and results in extravascular hemolysis
What proportion of cases of arrhythmogenic cardiomyopathy are inherited in an AD manner?
Approximately half of cases of arrhythmogenic cardiomyopathy are autosomal dominant
What is lymphomatoid granulomatosis?
Epstein-Barr virus-positive pulmonary lymphoma of B-cell origin. Lymphomatoid granulomatosis is a nodular pulmonary process characterized by vasculocentric necrotic nodules. The vessels can often show lifting of endothelium by the invading lymphocytes. The skin and CNS can also be involved.
What is the most common malignant salivary gland tumor overall?
Mucoepidermoid carcinoma
What is the most common malignant salivary gland tumor of the parotid?
Mucoepidermoid carcinoma
What is the most common malignant salivary gland tumor of the submandibular and sublingual glands?
Adenoid cystic carcinoma.
Name two syndromes associated with fibrothecoma?
Meigs syndrome (fibroma, ascites, and right hydrothorax) and Gorlin (basal cell nevus) syndrome.
What are the characteristic histopathologic findings of lupus erythematous skin involvement?
vacuolar (hydropic) alteration of the basal layer of the epidermis, a thickened basement membrane zone, interstitial mucin deposition in the dermis, and a lymphocytic inflammatory infiltrate
CD34 staining in DFSP.
Positive
CD34 staining in DF?
Negative
What is the most common lymphoma of the thyroid?
DLBCL
t(15;17) is seen in?
Acute promyelocytic leukemia
Age associated with good and poor prognosis in neuroblastoma?
Good <1 yo
Poor >5 yo
MKI index considered intermediate in neuroblastoma?
100-200
MKI index considered high in neuroblastoma?
> 200
Anti–Saccharomyces cerevisiae antibody (ASCA) test is associated with which type of IBD?
Crohn’s disease (65% of patients, only 15% in UC)
What rheumatologic condition may have organizing pneumonia?
RA
When are glycjogenated hepatocytes seen?
Diabetics with poor glucose control.
What is the commonest and second most common locations for rhabdomyosarcoma?
- head and neck (50%)
2. GU (30%)
The top three locations of GI carcinoid tumor?
- Small intestine
- Appendix
- Rectum
IHC profile of carcinoid tumor (and one additional stain in rectal carcinoids)?
positive for synaptophysin, chromogranin, and neuron-specific enolase
Rectal carcinoids are positive for PAP, but not PSA
Basophilic stippling can be found in which conditions?
lead intoxication, thalassemias, hemoglobinopathies, myelodysplasias, and megaloblastic anemia.
PFA-100 result:
• ADP normal and EPI normal =
Normal
PFA-100 result:
• ADP normal and EPI abnormal =
aspirin, nonsteroidal anti-inflammatory drugs (NSAIDS)
PFA-100 result
• ADP abnormal and EPI abnormal =
Bernard Soulier (BS) syndrome, Glanzmann thrombasthenia, von Willebrand disease, and so on.
In regards to pathophysiology, HSP is considered a systemic form of?
IgA nephropathy
HSP symptoms include
Purpura (predominantly involving the lower extremities), arthralgias, abdominal pain, and hematuria.
What is the finding in skin in patients with HSP?
Leukocytoclastic vasculitis with IgA deposition.
Immunohistochemically, clear cell renal cell carcinoma is positive for?
epithelial membrane antigen (EMA)+, Pan CK/Cam 5.2+, CK7/20 -, Carbonic Anhydrase 9 (CA-9+, Vimentin+, CD10+, RCC+, Pax-2+, and Pax-8+.
Loss of short arm of chromosome 3 is seen in?
Clear cell RCC associated with VHL.
What molecule is the receptor for EBV entry into the cell?
CD21
What are the genes associated with MHC 1
HLA-A, -B, -C
What cells have MHC-1 on their surface?
All nucleated cells.
MHC-1 presents what peptides?
Internal self-peptides and viral peptides
Cytotoxic CD8+ T cells recognize which MHC?
MHC-1
What are the genes associated with MHC 2
HLA-DR, -DP, -DQ
What cells have MHC-2 on their surface?
APCs
MHC-2 presents what peptides?
Exogenous
CD4+ T cells recognize which MHC?
MHC-2
A differentiating characteristic of A. fumigatus is its ability to grow at XX°C.
45°C
Cysticercosis is caused by?
pork tapeworm, Taenia solium
Virus most commonly implicated in endocervical neoplasia?
HPV-18
Virus most commonly implicated in squamous cervical neoplasia?
HPV-16
Fibrous dysplasia does or does not have osteoblast rimming?
Does not have
What is Kasabach-Merritt Syndrome?
Angiomatosis resulting in thrombocytopenia and consumptive coagulopathy.
What jaw tumor is associated with nevoid basal cell carcinoma syndomre?
Odontogenic keratocyst.
How do Erhheim-Chester disease histiocytes stain in regards to S100 and CD1a?
Variable S100 positivity, negative for CD1a.
What infection is associated with pulmonary alveolar proteinosis?
Nocardia
The most common cause of lymphocytic myocarditis?
Viral myocarditis.
Aggregates of large histiocytes with basophilic cytoplasm, vesicular nuclei, and a central bar of chromatin in the myocardium represent a?
Aschoff body
What cells make up the Aschoff body?
Anitschow
EM finding associated with anthracycline cardiotoxicity?
sarcotubular dilatation
Liver findings in AD and AR PKD?
AD: hepatic cysts
AR: congénital hepatic fibrosis
Klippel-Trenaunay syndrome is associated with what kidney tumor?
Hemangioma
Tuberous sclerosis is characterized by?
AML of the kidney, cardiac rhabdomyoma, and adenoma sebaceum
What is the most common germ cell tumor in prepubescent boys?
Yolk sac tumor
How much blood is usually collected at a donation and what volume constitutes a short filled unit?
Normal: 450 +/- 50
Short filled: 300-404
A receiving blood bank must complete what testing on blood units?
ABO and Rh typing
Anti-B test reagent color
Yellow
Anti A test reagent color
Blue
How many antigens must be tested on an antibody panel?
at least 18
How long can infant blood need not be crossmatched?
4 months
What may happen if LR is transfused in the same line as blood products?
Thrombosis
What may happen if Dextrose or hypotonic solutions are transfused in the same line as blood products?
hemolysis
Most common cause of community acquired pneumonia?
S. pneumoniae
Common pathogens causing pneumonia in patients with COPD?
H. influenzae, M. catarrhalis, Legionella
Most common cause of croup?
Parainfluenza virus
Most common cause of bronchiolitis in children?
RSV
Platelet adhesion is mediated by?
GP1b - vWF receptor
GB1a-IIa - collagen receptor
Platelet aggregation mediated by?
GBIIb-IIIa - fibrinogen receptor
What activates GBIb in vivo and in vitro?
In vivo - shear forces
In vitro - ristocetin
What do platelet alpha granules contain?
Fibrinogen, PDGF, vWF, P-selectin, PF-4
What do platelet dense granules contain?
ADP, ATP, Ca2+, and 5-HT
How is the extrinsic coagulation cascade “linked” to the intrinsic cascade?
Factor VIIa is capable of activating IX to IXa
What markers are on the lymphoid stem cell?
CD34+, TdT+, HLA-DR+
Pro-B cell immunophenotype?
CD34+, TdT+, HLA-DR+
CD19+, CD10+
Pre-B cell immunophontype?
CD34-, TdT-, HLA-DR+
CD19+, CD10+, CD20+
B cell immunophonotype?
CD34-, TdT-, HLA-DR+
CD19+, CD10+, CD20+, CD21+, CD22+ surface Ig
Plasma cell phenotype?
CD34-, TdT-, HLA-DR+
CD19-, CD10-, CD20-, CD21-, CD22- cytoplasmic Ig
Pro-thymocyte immunophyenotype?
CD34+. TdT+, CD7+
Immature/common thymocyte immunophenotype?
CD34-, TdT+, CD7+
CD1+, CD2+, cCD3+, CD3-, CD5+. CD4+. CD8+
Mature thymocytre/T cell immunophynotype?
CD34-, TdT-, CD7+
CD1-, CD2+, CD3+, CD5+. CD4 or CD8+
What immunoglobulins are on the surface of B cells?
IgM and IgD
What percentage of the peripheral blood lymphocytes are T cells?
65%
Normal CD4 to CD8 ratio?
2:1
95% of T cells carry this receptor while the other 5% this receptor?
95% - alpha beta
5% - gamma delta
TCR expressed in association with this CD molecule?
CD3
What is the major and minor normal adult hemoglobins?
HbA and HbA2
What makes up hemoglobin A?
alpha2 beta2
What makes up hemoglobin A2?
alpha2 delta2
What makes up hemoglobin F?
alpha2 gamma2
What is the incidence of HbS trait in african americans?
10%
What is hemoglobin S?
Beta chain allele with encodes valine in place of glutamate at position 6
What does hemoglobin SA electrophoresis look like?
35-45% HbS, 50-65% HbA, <3% HbA2
How long do red cells survive in HbSS?
17 days
What does hemoglobin SS electrophoresis look like?
> 80% HbS, 1-20% HbF, 1-4% HbA2, 0% HbA
What is hemoglobin C?
Beta chain allele with encodes lysine in place of glutamate at position 6
What is the second most common abnormal hemoglobin after S and what is its structure?
Hemoglobin E - beta26 (glu-lys)
Which hemoglobins run with S on alkaline gel?
HbD and HbG and Lepore
15% hemoglobin S is questionable for?
Hemoglobin Lepore
What is Hb Lepore and how does it present clinically?
Fusion of delta and beta genes
It presents with thallasemic indices
What abnormal hemoglobin is characterized by a mutation in the alpha gene which produces an abnormally long transcript?
Hb constant springs
What shifts the oxygen dissociation curve to the left?
Alkalosis
Hypothermia
Decreased 2,3 DPG
What shifts the oxygen dissociation curve to the right?
Acidosis
Hyperthermia
increased 2,3-DPG
What is methemoglobin and how is it treated?
Hemoglobin with Fe3+ instead of Fe2+, cannot bind O2
Tx: Methylene blue
What level of Hi can cause cyanosis?
10%
What level of SHb can cause cyanosis?
3-4%
What bacterial infection is associated with sulfhemoglobin?
C. perfringens bacteremia
What HbCO level is expected in a smoker?
2-6%
Symptoms of carboxyhemoglobin start at this level and become fatal at this level?
Symptoms: 10-20%
Fatal: 50%
What is DNA methylation and what is its effect?
Methylation affects cysteine moieties location in CpG island which leads to decreased transcription - basis of epigenetic modification
Histone acetylation has what effect on DNT?
increased DNA transcription
Most common cause of hospital acquired endocarditis?
Enterococcus
Most common genetic abnormalities in CMML?
trisomy 8, monosomy 7
CD34 and BCL-2 staining in solitary fibrous tumor?
Positive
What is the two most common genetic alterations in BE?
- inactivation of the p16 INK4A/CDKN
- loss or mutations of p53
What is the risk of cancer in patients with BE with and without dysplasia?
- without dysplasia, is approximately 2%.
- high-grade dysplasia ranges from 16% to 59%.
How is the anion gap calculated?
Anion gap = Na+–(Cl– + HCO3–)
How is the standard deviation index calculated?
SDI = (lab result – peer group mean)/peer group standard deviation.
What is accuracy?
How close a value is to the true value?
What is precision?
How reproducible is the value?
What is the immunophenotype of MF?
CD2+, CD3+, CD4+, CD5+, and CD8− T-cell infiltrate. Lesions often show an absence of CD7
MF with CD30+ cells indicates?
Poor Prognosis.
Immunophenotype of CLL/SLL
CD19 positive, CD20 positive (dim), CD5 positive, CD23 positive, CD43 positive/negative, FMC7 negative to dim, and dim surface light chain immunoglobulin expression.
Howell-Jolly Bodies represent ______ and are seen in patients with _________?
DNA, asplenia
AML with in(16) results in this morphology, is associated with this genetic abnormality, and portends a better or worse prognosis?
Prominent eosinophils are seen
CBFB-MYH11 fusion protein
Good prognosis
Typical staining of adenoid cystic carcinoma of the breast?
ER, PR, Her2 negative
CD117+
Patients with adenoid cystic carcinoma of the breast have a _______ prognosis?
Good
Invasive cribriform carcinoma of the breast has a favorable or unfavorable prognosis?
Favorable
The low grade neoplasia pathway in breast pathology is associated with this genetic aberration?
loss of 16q
Which one of the following is most commonly associated with transfusion-transmitted sepsis after transfusion of red blood cells (RBCs)?
Yersinia enterocolitica
APC gene mutations are associated with these syndrome?
FAP, Gardner Syndrome, Turcot Syndrome
Genetic mutation seen in Putz-Jegher Syndrome?
STK11
How do you calculate a likelihood ratio?
Sensitivity/(1-specificity)
How do you calculate post-test probability?
post-test odds = pretest odds × likelihood ratio
How do you calculate pre-test odds?
pretest odds = [pretest probability/(1 – pretest probability)]
or
pretest odds = [disease prevalence/(1 – disease prevalence)]
According to the Clinical Laboratory Improvement Amendments of 1988 (CLIA’88), point-of-care testing (POCT) programs must keep their records of all quality control activities for at least ____________.
2 years
Hyperleukocytosis has what effect on potassium levels?
Pseduohyper or hypokalemia?
What causes primary hyperparathyroidism in 85% of patients?
A single parathyroid adenoma.
Postinfantile giant cell transformation (PIGCT) of the liver is seen in?
autoimmune hepatitis, HCV infection with or without HIV confection, drug hepatotoxicity
Immunoprofile of HCC?
CK7/20 - HepPar1 + polyclonal CEA + Glypican3 + HSP70+
Typical IHC profile of chromophobe carcinoma?
CK7+, CK20-
KIT+
PAX2-
Colloidal iron+
Typical genetics of chromphobe carcinoma?
Loss of multiple chromosomes
Flow cytometric diagnosis of PNH relies on identification of decreased levels of these two red cell surface proteins?
CD55, CD59
grading of endometrioid adenocarincoma?
Grade 1: <5% solid
Grade 2: 5-50% solid
Grade 3: >50% solid
Fusobacterium nucleatum is ________ for indole reactionn and _________ for lipase reaction?
Positive for both
What is the most frequent translocation in Endometrial stromal sarcoma?
t(7;17)(p15;q21) resulting in a JAZF1/SUZ12 fusion product.
p16 staining in micro glandular hyperplasia?
negative
IgA IF pattern in dermatitis herpetiformis?
Granular
Order engraftment time from shortest to longest amounts these HPSC collection techniques: cord-derived, peripheral blood-derived, marrow-derived?
peripheral blood
marrow
cord
Order risk of GVHD from greatest to least regarding these HPSC collection techniques: cord-derived, peripheral blood-derived, marrow-derived?
Peripheral blood
marrow
cord
Classify these cytogenetic aberrations in CLL/SLL as either good or bad prognostic indicators: del13q, del TP53(17p13), monosomy 13, and deletion ATM (11q22)?
- deletion 13q or monosomy 13 predict a good prognosis.
- TP53 (17p13) and ATM (11q22) deletions individually, or in combination, predict a poor response to treatment.
IHC profile of DSRCT?
variable positivity for several keratins, EMA, desmin, NSE, and vimentin and shows consistent nuclear expression of WT1-C
Fusion partners in DSRCT t(11;22)?
EWS and WT-1
Neutrophils are activated mostly by this cytokine?
IL-8
Eosinophilic inflammation is driven by this cytokine?
IL-5
The complement factor acts as an opsonin and leads to phagocytosis of the foreign substance?
C3b
These complement members make up the membrane attack complex?
C5-C9 (C5b6789)
These two complement proteins promote the release of histamine from basophils and are referred to as anaphylatoxins?
C3a and C5a
What is the genetic locus of the MHC?
Chromosome 6p
What is typical in thalassemia regarding: Hemoglobin and Hematocrit: RBC Count: MCV: Peripheral Smear:
Hemoglobin and Hematocrit: low
RBC Count: normal to elevated
MCV: lower than in IDA
Peripheral Smear: microcytosis, target cells, basophilic stippling
The type of antibody in WAIHA is a ______ typically with broad reactivity against ___________
IgG, Rh antigens
The type of antibody in CAD/CAIHA is a ______ typically reactivity against ___________
IgM, I antigen
CAIHA with anti-I or Anti-i can be caused by these viruses?
Anti-I: mycoplasma pneumonia
Anti-i: EBV
Peripheral blood neutrophils with phagocytosed RBCs is seen in?
Paroxysmal cold hemoglobinuria
What is the Donath-Landsteiner Antibody?
IgG biphasic hemolysin with anti-P specificity
What are cryoglobulins?
Immunoglobulins that precipitate reversibly at low temperatures
What is type 1 cryoglobulinemia?
Monoclonal immunoglobulins seen in multiple myeloma of Waldenstroms macroglobulenemia
What is type 2 cryoglobulinemia?
Monoclonal IgM and polyclonal IgG
IgM has RA activity (anti-IgG)
What is type 3 cryoglobulinemia?
Mixture of w polyclonal immunoglobulins
Mutations in this gene are associated with PNH?
PIG-A
LAP score in PNA?
Low
Translocation and fusion partners in PNET/Ewing’s sarcoma
t(11;22)(q24;q11) - FLI-1 and EWS
translocation in Clear Cell Sarcoma?
t(12;22)
translocation in secretory carcinoma of the breast and mammary analog secretary carcinoma of the salivary gland?
t(12;15) ETV6-NTRK3
t(11;19) - CRCT1-MAML2 is seen in which head and neck malignancy?
Mucoepidermoid carcinoma.
Mutations in this protein lead to hereditary hemochromatosis?
HFE
Bacteria commonly found with T. vaginalis infection?
Leptothrix
Quad screen results expected in trisomy 18?
All normal or decreased
What cell is used to culture C. trachoma’s?
McCoy
What are Donovan bodies?
Bipolar stained rods in macrophages or monocytes in Donovan’s disease
Appearance of V. cholerae on TCBS agar and what does that colony color indicate?
Yellow, sucrose fermentation
The most common translocation and partners seen in ALCL?
t(2;5) - NPM-ALK
ALK rearrangement in lung adenocarincomas is associated with these fusion gene?
ALK/EML4
Expected normal platelet aggregometry response to ristocetin 0.8 mg/mL and 1.2 mg/mL?
- 8 - little response
1. 2 - aggregation
A poor response to all agonists except ristocetin is indicative of?
Glanzmann thrombasthenia
A response to everything but ristocetin is indicative of?
vWD or Bernard-Soulier Syndrome
The majority of immunodeficiencies affect ________ as they are typically inherited in this manner?
boys, x-linked
Recurrent bacterial infections, especially of the upper aerodigestive tract, as well as chronic G. intestinalis infection may indicate?
And immunoglobulin or B cell defect
Increased susceptibility to viral or fungal opportunistic infections can be seen with defects in?
T cells
Defects in this system lead to infection with catalase positive organisms?
Phagocyte system
Defects in this portion of the innate immune system leads to infection with encapsulated bacteria?
Terminal complement disorders
Staining profile of PLGA?
S100 and EMA - strong and diffuse
CEA - variable
CKIT - weak positive
Staining profile of adenoid cystic carcinoma of the salivary gland?
S100 - variable
EMA and CEA - luminal cells
CKIT - strongly positive
t(8;21) results in this morphology in AML?
Myeloblasts with neurtophillic differentiation
What are the fusion partners in t(8;21) AML?
RUNX1-RUNX1T1
Myelomonocytic or monocytic differentiation in AML may be due to this translocation?
t(9;11)
Gliomas may stain with this cytokeratin?
AE1/AE3 due to cross reactivity with GFAP
Desmoplastic melanomas stain for these melanoma markers?
S100 and SOX10
These coagulation factors of the intrinsic pathway does not result in clinically significant bleeding when deficient?
prekallikrein, factor XII, and high-molecular-weight kininogen
Immunoreactivity of meningiomas?
EMA and vimentin positive
T. whippeli gram stain?
gram+, classified as an actinomycete
Where do atypical fibroxanthomas occur and who gets them?
atypical fibroxanthomas (AFXs) occur in the dermis of the sun-damaged skin of older individuals
IHC profile of atypical fibroxanthoma?
CD34 negative, and express myofibroblastic markers, such as smooth muscle actin (SMA)
Number of cells required in a conventional pap?
8,000-12,000
Number of cells required in a thin-prep pap?
5000
Triad observed in toxoplasma lymphadenitis?
follicular hyperplasia
clusters of epithelioid histiocytes
infiltration of monocytoid B cells
FDA irradiation requirements for blood products?
15 Gy to periphery of unit, 25 Gy to center of unit
Group A has this added to its carbohydrate moiety to make it group A.
N-acetylgalactosamine
Group B has this added to its carbohydrate moiety to make it group B.
Galactose
Homocysteine and methymalonic acid levels in B12 and folate deficiency?
B12: elevated MMA and Homocysteine
Folate: normal MMA and elevated homocysteine
MEN2B consists of?
medullary thyroid carincoma, pheochromocytoma, and multiple ganlglioneuromas.
MEN1 consists of?
pancreatic neuroendocrine tumors
pituitary adenomas
parathyroid hyperplasia
MEN2A consists of?
medullary thyroid carincoma, pheochromocytoma, parathyroid hyperplasia
What syndrome has multiple colon polyps and brain tumors?
Turcot syndrome
either associated with FAP or Lynch syndrome
What syndrome is characterized by multiple colon polyps, jaw tumors, and fibromatosiss?
Gardner’s syndrome
associated with APC gene
The most common malignant sarcoma primary to the heart is?
Angiosarcoma
t(x;17) is seen in?
ASPS TFE-ASPL
Myelomonocystic leukemia would be positive for these markers?
CD11c CD64, CD33 and CD13.
What happens to hepcidin levels when a patient has hemochromatosis.
levels are low
• Microcytosis + normal iron studies + normal hemoglobin fractionation pattern (no variants; hemoglobin A, A2, and F within the reference range) is a presumptive diagnosis of?
α-thalassemia trait.
• Microcytosis + normal iron studies + elevated hemoglobin A2 is a presumptive diagnosis of?
β-thalassemia trait.
Transient abnormal myelopoeisis observed in trisomy 21 is associated with myeloid proliferation typically of this lineage?
Megakaryocytic
Mutations in this gene are seen in patient’s with trisomy 21 with myeloid neoplasms?
GATA-1
cytokeratins expressed in clear cell rcc?
CK8, CK18
Thiamine deficiency can lead to this gross finding in the brain?
atrophy of the mammillary bodies
Serum ceruloplasmin levels and urinary copper levels in Wilson’s disease?
Ceruloplasmin - low, urine Ca2+ elevated
Mutations in this gene cause Wilson’s disease?
ATP7B
Flow cytometric diagnosis of Glanzmann thrombasthenia is done by identifying loss of either of these markers?
GPIIb (CD41) and GPIIIa (CD61)
What are the acrocentric chromosomes?
13, 14, 15, 21, and 22
Tumor marker of ovarian carcinoma?
CA-125
CEA is a tumor marker of?
Pancreatic and gastrointestinal cancers
CA-19-9 is a tumor marker of?
Pancreatic adenocarinocma.
Salivary duct carcinoma resembles this neoplasm and has this immunoprofile?
IDC of the breast AR+ GCDFP+ HEr2Neu+ PSA (50%) PR (6%) ER (1%)
Renal papillary necrosis occurs in these four settings?
obstructive pyelonephritis, diabetic nephropathy, sickle cell anemia, and analgesic abuse
Pilomatrixoma is also known as?
Malherbe calcifying epithelioma
Most common Rh-positive Weiner haplotype in whites?
R1
Most common Rh-positive haplotype in blacks?
R0
The most common Rh-negative Rh haplotype?
r
infantile precursor B-cell lymphoblastic leukemia is associated with this gene and translocation.
MLL gene on 11q23
t(4;11).
Immunohistochemical staining for YST?
YST is positive for α-fetoprotein (AFP) and cytokeratin. CEA, vimentin, and PLAP show variable positivity. EMA, CD30, and CD99 are negative.
What non-GI tumors are seen in Peutz-Jegher Syndrome?
Women: adenoma malignum and SCTAT
Men: Sertoli cell tumors
What GI polyp is associated with hypokalemia?
villous adenoma
Genetic alteration seen in hibernoma?
11q13
Genetic alteration seen in myxoid liposarcoma?
t(12;16)
Genetic alteration seen in well-differentiated liposarcoma?
Ring chromosome 12
Genetic alteration seen in lipoblastoma?
8q11-13
Genetic alteration seen in spindle/pleomorphic lipoma?
16q13
Microglandular adenosine has myoepithelial cells, true or false?
false
Describe myxofibrosarcoma?
Grossly MFS is a multinodular neoplasm composed of gelatinous or fibrous nodules. Microscopically the tumor nodules are lined by fibrous septa and are composed of myxoid to fibrous matrix in variable proportions. The myxoid areas contain curvilinear vessels with perivascular tumor cell condensation.
Autoantibody seen in primary biliary cirrhosis?
Anti-mitochondrial
Enzyme important to the development of HDL?
LCAT
HTLV-1 is the causative agent of?
ATLL as well as tropical spastic paraparesis.
What is the immunophenotype of ATLL?
CD2+, CD3+, CD5+, CD7–, CD4+, CD25+, ±FoxP3+
The diagnosis of CLL requires an absolute lymphocyte count of at least ______ for _______ months?
5 × 109/L, 3 months