AP Questions Part 2 Flashcards

1
Q

Basal cell carcinomas, OKCs, medulloblastoma, ovarian fibromas, and skeletal deformities - what syndrome? What mutation?

A

Gorlin syndrome, PTCH gene
(Think Head + skin/st)

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2
Q

Lynch syndrome (GI, endometrial, ovarian ca) + sebaceous adenomas and carcinomas and keratoacanthomas, what syndrome + mutations?

A

Muir-Torre syndrome, MLH1 and MSH2
(TORRid = fat = sebaceous, eat a KERAT)

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3
Q

Fibrous dysplasia, skin pigmentation, endocrine abnormalities, think what syndrome? Mutation?

A

McCune Albright syndrome
GNAS1 (GNASh your teeth)

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4
Q

Hamartomas, soft tissue and skin tumors, trichilemmomas, breast cancer, what syndrome? Mutation?

A

Cowden syndrome (tricheleMOOmas: Cowden, plus basal edges look like udders of a cow)
PTEN

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5
Q

Enchondromas dedifferentiating into chondrosarcomas, hemangiomas dedifferentiating into angiosarcomas, what syndrome?

A

Maffucci’s syndrome

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6
Q

Enchondromas dedifferentiating into chondrosarcoma, what syndrome?

A

Ollier’s syndrome

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7
Q

What do each of the colors of a health hazard Diamond on safety lab labels indicate? A) blue B) red C) yellow D) white

A

A) health hazard
B) flammability hazard
C) instability hazard
D) special hazards (ie alkalinity, oxidation, radioactivity, rxn with water etc)

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8
Q

What is the most common mutation of adenoid cystic carcinoma? Within what body part is it the most common tumor?

A

MYB-NFIB fusion (the B’s are gloBules)
The palate

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9
Q

What is the most common EXTRAcranial solid tumor in kids? What 2 places does it metastasize?

A

Neuroblastoma, to bone marrow and skin

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10
Q

What do you see on cytology with pulmonary alveolar proteinosis?

A

Little to no inflammation, irregular clumps of PASD+ granular material, necrotic debris, foamy macrophages

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11
Q

What mutation is associated with lymphoplasmacytic lymphoma? What immunoglobulin is elevated?

A

MYD88
IgM (causes inclusions in nuclei/cytoplasm)

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12
Q

Hairy cell leukemia, what do you see on bone marrow aspirate? what is +IHC?

A

Aspirate: NOTHING (dry tap!)
CD11c, CD25, CD103, annexin-1

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13
Q

What tumors is INI-1 / SMARCB1 lost in?(6 groups)

A

Rhabdoid tumors, peripheral nerve sheath tumors, undifferentiated portions of neoplasms, *epithelioid sarcoma, renal medullary carcinoma, SMARCB1 deficient Sinonasal carcinoma

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14
Q

What disease involves mutation of a cAMP activated ATP-gated anion channel?

A

Cystic fibrosis

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15
Q

What is the difference between Diamond Blackman anemia and Fanconi anemia:
a) clinically
b) genetic inheritance
c) peripheral blood findings
d) marrow findings

A

a) Diamond:abnormal thumbs, Fanconi:cafe au lait spots
b) Diamond: AD or de novo, Fanconi: aut rec
c) Diamond: elevated HbgF and increased erythrocyte adenosine deaminase (both have macrocytic anemia)
d) Diamond: increased lymphoid precursors and decreased erythroblasts (bc it’s a red cell aplasia), Fanconi: AML, myelodysplasia

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16
Q

Under CLIA, certificate of waiver allows an office or lab to perform what kinds of tests?

A

Low error prone tests, ie U/A, fingerstick glucose, H pylori, cholesterol, etc

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17
Q

Under CLIA, what is the difference between Certificate of Accreditation and Certificate of Compliance?

A

Accreditation: issued if another accrediting agency of equal or more stringent requirement as CLIA (ie CAP, Joint Commission) are met
Compliance: issued if inspection by CLIA itself meets requirements by CLIA

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18
Q

What 2 disorders is Alport’s syndrome associated with?

A
  • Hematologic: megathrombocytopenia and granulocyte abnormalities
  • Diffuse leiomyomatosis
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19
Q

What mutation is associated with neuroblastoma? Small cell lung carcinoma?

A

Neuro: N-myc
SCLC: n-myc and L-myc

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20
Q

Good prognosis factors for neuroblastoma?
a) age
b) mutation
c) location

A

a) <1 year
2) NO n-myc nut or 1q36 del
3) extra-adrenal

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21
Q

Turcot syndrome - what 2 groups of tumors and what mutation?

A

Polyposis and CNS tumors
PMS2

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22
Q

Kasabach-Merritt syndrome, think what tumor and what symptoms

A

Vascular (hemangioendothelioma or tufted angioma)
- Infant with thrombocytopenia, hemolytic anemia, consumptive coagulopathy

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23
Q

What is the difference between smoldering MM and active MM?

A

Smoldering: no organ impairment
Active: organ impairment (hypercalcemia, anemia, renal impairment, bone lesions)
- both need M protein >3 and BM plasma cells >10%

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24
Q

What is the most common site for granular cell tumor? What are 4 stains to remember?

A

Oral cavity
S100+, NSE+, Sudan black+, PAS-D+ granules

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25
Q

Disorder of alpha-galactosidase A that causes accumulation of sphingolipids and peripheral neuropathy? Inheritance?

A

Fabry disease, X-linked (all other lysosomal storage diseases are aut rec)

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26
Q

What disorder with mutation of galactosylceramidase results in accumulation of sphingolipids with fevers, failure to thrive?

A

Krabbe disease

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27
Q

Translocation (1;13) or (2;13) is seen commonly in what solid tumor?

A

Alveolar rhabdomyosarcoma

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28
Q

Birt-Hogg-Dube syndrome - what is the mutation and what 3 lesions should you think of?

A

FLCN (folliculin)
1) chromophobe carcinoma
2) pulmonary cysts
3) skin tumors (fibrofolliculoma, acrochordon, etc)

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29
Q

What kidney tumor is associated with sickle cell anemia?

A

Renal medullary carcinoma

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30
Q

What renal tumors are a) associated with trisomy 7 and 17 or loss of chromosome Y, and b) associated with loss of 3p/VHL gene?

A

A) papillary RCC
B) clear cell RCC

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31
Q

What is the cutoff size for papillary adenomas vs papillary RCC

A

1.5 cm

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32
Q

What 3 findings support diagnosis of adrenal cortical carcinoma over adenoma?

A

1) High serum DHEA-S
2) size >6 cm
3) 3 points of 7 including <25% clear cytoplasm and other typical malignant features ie invasion

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33
Q

Hirschprung’s disease: what is the mutation? What happens to ganglion and nerve fibers on IHC?

A

RET mutation
Absent ganglion cells: calretinin-, NSE-, RET-
Increased nerve fibers: Acetylcholinesterase+

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34
Q

Causes of methemoglobinemia?

A

Antibiotics ie sulfonamides, nitrates, quinones

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35
Q

a) What mutations are SSA associated with? b) where are they predominantly located?

A

A) BRAF, KRAS, microsatellite instability
B) right colon

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36
Q

ASC/SIL ratio should not exceed what ratio to maintain quality assurance?

A

3:1

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37
Q

What stain differentiates Langerhans cell sarcoma from LCH?

A

CD56+ (the rest like cd1a, s100, langerin are same)

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38
Q

How is positive amplification of HER2 defined in a) single probe? b) dual probe?

A

a) >6 signals/cell
b) copy number >=6 OR >=4 + HER2/CEP17 >=2

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39
Q

Tyrosine crystals are seen most commonly in what salivary gland tumor?

A

Pleomorphic adenoma

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40
Q

What mutation is seen in Hailey Hailey disease and what is it?

A

ATP2C1 (encodes calcium protein pump causing defect in keratinocyte adhesion)
Benign familial pemphigus

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41
Q

Angiomyolipoma is associated with what condition and mutation?

A

Tuberous sclerosis, TSC2 mutation

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42
Q

What are the 2 most common causes of eosinophilic pleural effusion?

A

Malignancy and idiopathic

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43
Q

How does desmoplastic melanoma differ from conventional melanoma on IHC?

A

Desmoplastic is negative for HMB-45 and melan-A (is positive for S100 and SOX10)
(deSmoplastic)

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44
Q

How long should the following be stored for forensic autopsy vs non-forensic autopsy:
a) wet stock tissue
b) slides, blocks, reports
C) body fluids and tissues for tox
D) tissue for DNA analysis

A

a) forensics 1 year, non-forensics 3 months
b) forensics indefinitely, non-forensics 10 years
C) 1 year (forensics only)
D) indefinitely (forensics only)

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45
Q

What 2 stains highlight microglandular adenosis?

A

PAS for globules, S100 for epithelial lining

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46
Q

What is the mutation and main histo findings for autoimmune lymphoproliferative syndrome?

A

FAS mutation
CD4/8 lymphocyte increase, paracortical hyperplasia, polyclonal plasmacytosis

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47
Q

Endometriosis is associated with what two cancers?

A

Clear cell adenocarcinoma and endometrioid carcinoma

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48
Q

What is most common site of plasmacytoma outside bone marrow (extramedullary)?

A

Nasopharynx and oropharynx

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49
Q

How to differentiate partial and complete mole by IHC?

A

Partial mole: positive p57
Complete mole: negative p57 in villi (fetal tissue)

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50
Q

What happens in primary polycythemia Vera to 1) EPO 2) LAP 3) iron? 4) platelet studies?

A

1) decreased
2) increased
3) decreased
4) abnormal with thrombosis
(Opposite in secondary)

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51
Q

What disease are Mikulicz cells (large vacuolated macrophages) seen in?

A

Rhinoscleroma (chronic granulomatous bacterial disease of nose caused by Klebsiella rhinoscleromatis)

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52
Q

What disease are Michaelis-Gutmann bodies (concentric targetoid lamellations) and von Hansemann cells (histiocytes with granular eosinophilic cytoplasm) seen in?

A

Malakoplakia

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53
Q

What increases grade II (classic oligodendroglioma) to a grade III (anaplastic oligodendroglioma)

A

Mitosis index and microvascular proliferation

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54
Q

What is the most common benign tumor of the extrahepatic biliary tree?

A

Granular cell tumor

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55
Q

What does type I, II, and III paroxysmal nocturnal hemoglobinuria show for CD59 expression?

A

Type I: normal
Type II: partial expression/deficiency
Type III: complete deficiency

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56
Q

What is the most common location of NUT midline carcinomas?

A

Mediastinum

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57
Q

What salivary duct neoplasms have a) abundant mitochondria? B) antimitochondrial antibodies? C) amylase and anti-chymotrypsin?

A

A) Oncocytoma and warthin tumor
B) mucoepidermoid carcinoma
C) Acinic cell carcinoma

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58
Q

What is embryonal carcinoma positive for? Name 5 IHCs

A

CD30, PLAP, OCT3/4, SALL4, SOC2

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59
Q

What is the difference between Carney triad and Carney complex syndrome?

A

Carney triad: GIST, extra-adrenal paraganglioma, pulmonary chordoma

Carney complex: aut dom multiple endocrine neoplasia with myxomas, endocrine hyperactivity, blue nevus, and schwannoma

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60
Q

What tumors are associated with Garner syndrome?

A

Osteomas, fibromas, colon adenomas, Desmoid tumor

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61
Q

Essential thrombocytopenia- what are the two most common mutations?

A

1: JAK2 V617F

#2: CALR (calreticulin)

62
Q

What are the two most malignant vascular tumors?

A

Angiosarcoma and epithelioid hemangioendothelioma

63
Q

What is the mutation seen in Hemoglobin C trait and disease? What do you see on peripheral smear?

A

Glutamate to lysine mutation at position 6 of beta chain (lySIne like “C”, while sickle cell is valine)
RBC crystals, microcytic anemia

64
Q

What are the mutations for a) posterior fossa ependymoma, group A b) supratentorial ependymoma, and b) spinal cord ependymoma?

A

a) loss of H3K27me3 expression, EZHIP overexpression (remember K27 is bad and so this has poor prognosis in infants with cerebellar invasion)
b) ZFTA or YAP-1 (Zinger Tatyana YAPs off the top of her head)
c) presence or absence of MYCN amplification

65
Q

What diseases in the mother commonly cause a) villous hyper maturity and b) villous immaturity in the placenta?

A

A) hypertension (ie eclampsia)
B) diabetes

66
Q

What autoantibodies (and to what) do you see in a) pemphigus foliaceus b) pemphigus vulgaris c) paraneoplastic pemphigus d) bulbous pemphigoid?

A

a) IgG and C3 to desmoglein 1 (chicken wire, intercellular bridges)

b) “ to demoglein 1 and 3 (“)

c) IgG to multiple antibodies (intercellular bridges AND basement membrane)

d) IgG and C3 to BP-Ag1 (desmoplakin: hemidesmosome) and BP-Ag2 (collagen 17) (linear basement membrane)

67
Q

What’s the difference between type I and type II papillary RCC?

A

Type I: small hyperchromatic nuclei with pale cytoplasm, inconspicuous nucleoli
Type II: large pseudostratified nuclei with abundant eosinophilic cytoplasm, prominent nucleoli

68
Q

What virus is associated with: a) Angioimmunoblastic T-cell lymphoma b) Adult T cell lymphoma?

A

A) EBV (Blastic)
B) HTLV-1 (adulT)

69
Q

What IHC is associated with a) Angioimmunoblastic t-cell lymphoma, b) Anaplastic large cell lymphoma, including breast implant associated, c) Sezary syndrome?

A

A) CD10+
B) CD30+ for all, ALK+ for some (but breast implant is ALK-)
C) cd7-, cd26-

70
Q

What lab finding does T cell large granular lymphocytic leukemia typically present with?

A

Neutropenia

71
Q

What mutation is associated with juvenile myelomonocytic leukemia?

A

NF-1

72
Q

What 4 cancers besides retinoblastoma is the mutation Rb associated with?

A

Osteosarcoma, breast, lung, and colon carcinomas

73
Q

What mutation is seen in Wilson disease? What lab finding and what stain can you use to diagnose?

A

ATP7B (copper transporting ATPase)

Low ceruloplasmin; rhodanine/orcein/Victoria blue stain

74
Q

What is the most common cause of angiosarcoma?

A

Radiation therapy

75
Q

How to tell apart endometrial endometrioid from serous from clear cell carcinoma by IHC?

A

Endometrioid: PAX8, ER, PR, vimentin, CK7
Serous: p17, p53
Clear cell: AMACR, CK7, napsin-A, HNF1-B

76
Q

What is the differentiating size for diagnosing metaphyseal fibrous defect vs non-ossifying fibroma? What is on the radiology and histology for both?

A

3 cm
Surrounding sclerotic scalloped edges on imaging, metaphysis. Spindled stroma cells in storiform pattern, foamy macrophages, giant cells (but not as many giant cells as in giant cell tumor which is also on epiphysis not metaphysis and is in older not younger patients)

77
Q

What are MOC31 and Ber-EP4 useful for distinguishing?

A

Adenocarcinoma (positive) vs mesothelioma (negative)

78
Q

What 3 stains stain for plasma cells?

A

CD138, CD38, and CD79a (other B cell markers are negative)

79
Q

What 3 stains stain for histiocytes?

A

CD163, CD63, CD68

80
Q

What 3 stains stain for erythrocytes?

A

CD43, CD245, CD35

81
Q

What are the requirements for satisfactory sample for a) liquid based cytology smears and b) conventional smears?

A

a) 5000+ squamous cells, <75% obscured
b) 8000+ squamous cells, <75% obscured

82
Q

What is the mutation for Dermatofibrosarcoma protuberans (DFSP)?

A

COL1A1 and PDGFB (collagen and platelet derived growth factor)

83
Q

Stomatocytosis is caused by what 4 causes?

A

Drugs, alcohol/liver disease, Rh null phenotype, or inherited aut dom Na+/K+ permeability with increased sodium which increases MCV

84
Q

What 3 things besides CD1a, S100 does Langerhan Cell Histiocytosis stain?

A

CD207 (Langerin), fascin, CD68

85
Q

IDH mutant astrocytoma shows what by IHC? IDH wild type shows what by IHC?

A

Mutant: ATRX loss
Wild type: EGFR, c7 gain/c10 loss, TERT

86
Q

What is the genetic syndrome which has cyanotic heart disease, abnormal facies, thymus aplasia, cleft palates, and hypoparathyroidism(decreased calcium)?

A

22q11 syndrome (aplasia of 3rd and 4th brachial pouches >thymus and parathyroid aplasia)

87
Q

What mutation is present in polymorphous adenocarcinoma of salivary glands?

A

PRKD

88
Q

What is the common cytogenetic findings in myelolipoma?

A

X-chromosome inactivation (so, more common in females)

89
Q

What is the difference between perineuroma and neurofibroma?

A

Same histologically, but perineuroma is S100-, EMA+

90
Q

What are the differences between NF1 and NF2?

A

NF 1: neurofibromin mut on c17, pigmented hamartomas (Lisch nodules) on iris, cafe au lait spots

NF2: merlin mut on c22, vestibular schwannomas, meningiomas, gliomas, cataracts

91
Q

In lab proficiency testing, a) how many times per year does it need to be done b) how many challenges performed per analyte c) what percent of results need to fall within limits?

A

a) 3
b) 5
c) 80%

92
Q

How to distinguish CLL and mantle cell lymphoma by IHC?

A

CD23 (positive in CLL, negative in mantle), cyclinD1 (positive in mantle, negative in CLL)

93
Q

What genetic conditions is HbF elevated in and which is it not?
From list: alpha-thalassemia trait, beta-thalassemia, HbH disease

A

Increased HbF in beta thalassemia (>50%)
Deceased in alpha-thalassemia (“trait”: 2 alpha chains missing, “HbH”: 1 alpha chain missing)

94
Q

What are the 4 criteria specific for prostatic carcinoma?

A

Glomeruloid intraglandular projections, perineural invasion, collagenous micronodules (mucinous fibroplasia), LVI

95
Q

What is the difference between real time PCR and touchdown PCR?

A

Real time: QUANTITATIVE - measures amount of DNA/RNA via fluorescence at beginning of synthesis

Touchdown: higher annealing temperature used earlier in the process and lower annealing temperature used later in the process

96
Q

What age group and treatment for each of the following:
A) osteosarcoma
B) chondrosarcoma

A

A) younger; radiation and chemo (following amount of necrosis)
B) older; resection only

97
Q

Young patient with bone tumor with pain that is responsive to aspirin and NSAIDs, what’s the diagnosis?

A

Osteoid osteoma

98
Q

How to tell apart adenoid cystic carcinoma and invasive cribriform carcinoma of breast?

A

ACC: Triple negative; myoepithelial markers outline all lumina

Cribriform: usually ER/PR/Her2+; myoepithelial markers only outline periphery of nests

99
Q

What is the mutation for adenoid cystic carcinoma of breast?

A

MYB and MYBL1 (“MYoepithelial Basal cells”)

100
Q

What do tissues look like from minoxycline antibiotic therapy, and what organs/tissues?

A

Black discoloration of skin, bones, teeth, and thyroid

101
Q

What is the most common breast carcinoma in young people?

A

Secretory carcinoma (aka “juvenile carcinoma”)

102
Q

What type of melanoma are KIT mutations more common in?

A

Acral-lentiginous / mucosal

103
Q

What type of gene alteration is most common in BRAF wild type melanoma?

A

NRAS

104
Q

What is the most common HPV subtype associated with A) small cell carcinoma of cervix and B) HSIL, SCC, AC of cervix?

A

A) 18
B) 16

105
Q

How is a) superficially invasive carcinoma of cervix defined(depth and width)? b) superficially invasive SCC of vulva(depth)?

A

A)<5 mm depth or <7 mm width
B)<1 mm from uppermost dermal papillae

106
Q

What is the difference between Kimura’s disease and Kikuchi’s syndrome?

A

Kimura’s disease: young Asian men, increased IgE, lymph nodes with hyperplastic germinal centers and interfollicular eosinophilia

Kikuchi’s syndrome: young women, lymph nodes with necrosis and apoptotic debri, crescent shaped histiocytes

107
Q

Autoimmune lymphoproliferative syndrome is associated with what mutation?

A

FAS

108
Q

What syndrome is associated with overgrowth of nearly every tissue type and increased thrombosis? What mutation?

A

Proteus syndrome, AKT1

109
Q

What grade is tanycytic ependymoma and what is the histologic pattern?

A

Grade II, spindle cells

110
Q

What type of ependymoma is most common in cauda equina of young adult males? What grade?

A

Myxopapillary ependymoma

Grade I

111
Q

What type of glomerular disease has subepithelial “spike and dome” deposits and PLA2R1+?

A

Membranous glomerulonephritis

112
Q

What mutation is associated with focal segmental glomerulosclerosis?

A

APOL1

113
Q

What do each of the following pancreatic enzymes elevated mean/in what neoplasms are they elevated?
A) amylase
B) CEA
C) CA19-9

A

A) pancreatic duct blockage (ie pseudocyst, IPMN)
B) mucinous (ie IPMN, mucinous cystadenoma)
C) mucinous (ie IPMN, mucinous cystadenoma)

114
Q

how many peripheral blood blasts and how many bone marrow blasts are in 1) MDS with excess blasts 1, and 2) MDS with excess blasts 2?

A

1) PB: 2-4%, BM: 5-9%
2) PB: 5-9%, BM: 10-19%, or Auer rods

*both have excess blasts that don’t meet the criteria for leukemia (20%)

115
Q

Thymic carcinoma - what 3 stains to remember are positive?

A

CD5+
CD117+
p40+ if squamous differention

116
Q

What tumor is associated with Kasabach-Merritt syndrome, and what mechanism does this syndrome entail?

A

Kaposiform hemangioendothelioma

Platelets trapped by tumor -> thrombocytopenia, hemolytic anemia

117
Q

What nephropathy is associated with a) solid tumors? B) Hodgkin’s lymphoma?

A

A) membranous nephropathy
B) minimal change disease

118
Q

What is the mutation for Acute Promyelocytic Leukemia and what is the treatment?

A

t(15;17) PML-RARA
All Trans-Retinoic Acid

119
Q

What is the difference in IHC staining between clear cell renal cell carcinoma and endometrial clear cell carcinoma?

A

CD10+, PAX2+ in clear cell renal cell (but both are PAX8+)

120
Q

What is the histologic difference between atypical lipomatous tumor and pleomorphic / spindle cell lipoma?

A

Pleomorphic / spindle cell lipoma has more ropy collagen in the fibrous parts

121
Q

What are the two standard risk mutations in multiple myeloma?

A

1) hyperploidy with gain of odd number chromosomes

2) IgH mutation including c6;14

122
Q

What is the difference between AA and AL amyloidosis?

A

AA: most common worldwid, w/ autoimmune / chronic inflammatory states, so IHC will show protein amyloid A

AL: most common in US, w/ plasma cell dyscrasias /LPLs, so w/ kappa or lambda light chains

123
Q

Name 5 cancers associated with EBV in the head/neck

A

Oral hairy leukoplakia, nasopharyngeal carcinoma, extranodal NK/T cell lymphoma, Burkitt’s lymphoma, lymphoepithelial carcinoma

124
Q

Autoimmune hepatitis - what antibodies are positive in type 1 and type 2?

A

Type I: ANA, anti-SMA+
Type II: anti-LKM, anti-LC1

125
Q

What 3 cancers are associated with SMARCA4 mutations?

A

1) Small cell carcinoma of ovary, hypercalcemic type
2) SMARCA4 deficient undifferentiated uterine sarcoma
3) SMARCA4 deficient thoracic sarcoma

126
Q

Name 3 cancers associated with SMARCB1 loss

A

SMARCB1 = INI1
1) teratoid/rhabdoid tumor
2) renal medullary carcinoma
3) epithelioid sarcoma

127
Q

Name 4 cancers associated with ETV6-NTRK3 mutation

A

1) infantile fibrosarcoma
2) cellular congenital mesoblastic nephroma
3) secretory carcinoma of breast
4) secretory carcinoma of salivary gland

128
Q

What is the only neuroblastoma without MYC amplification?

A

Olfactory neuroblastoma

129
Q

What tumor has IL6ST mutation?

A

Inflammatory adenoma
(Think IL as in interleukin)

130
Q

What two IHC stains help differentiate neurofibroma and schwannoma?

A

CD34 (positive in NF, neg in Schwannoma)
S100 (positive in both but diffusely in Schwannoma)

131
Q

What does adenomatoid tumor stain positive for? Where is it the most common benign tumor?

A

D2-40, calretinin, WT-1, thrombomodulin (think: it’s a tumor of mesothelial origin)

Fallopian tube

132
Q

What are germinal centers positive for in reactive germinal centers of benign lymph node vs follicular lymphoma?

A

Reactive: BCL-6
Follicular: BCL-2
(Both: HGAL)

133
Q

What sex and age group is Langerhans cell histiocytosis common in?

A

Males, 5-15 (young)

134
Q

What is furcate insertion on the umbilical cord?

A

When Wharton’s jelly is absent at insertion of the umbilical vessels so they’re unprotected

135
Q

What is the maximum depth for calling something micro invasive for the following carcinomas: a) ovary b) salivary carcinoma ex PA c) pulmonary ACA

A

a) 3 mm (and <10 mm area)
b) 1.5 mm
c) 5 mm D (and <3 cm size, lepidic growth)

136
Q

What is the mutation and findings for hereditary pyropoikilocytosis?

A

Spectrin (it’s a type of elliptocytosis)
Autosomal recessive
Heat sensitive (“pyro”) poikilocytes (microspherocytes: “poika dots”) and elliptocytes

137
Q

What is the relationship between gonadoblastoma and dysgerminoma?

A

Dysgerminoma = Seminoma, so is the malignant transformation of gonadoblastoma (in situ lesion)

138
Q

What lab findings and what IHC (One of the CD markers) would you find in hemophagocytic lymphocytosis?

A

Cytopenia, increased ferritin and triglycerides, decreased fibrinogen and NK cell activity (therefore increased CD25)

139
Q

What mutation is seen in hereditary spherocytosis? What test should you do?

A

Ankyrin
(Autosomal dominant)
Osmotic fragility test (will be positive)

140
Q

What 4 test markers are different in thalassemia and iron deficiency anemia?

A

RBC count(low in IDA, normal in thalassemia)
RDW (high in IDA, normal in thalassemia)
Iron(low in IDA, normal in thalassemia)
Ferritin (low in IDA, normal in thalassemia)

141
Q

What 3 diseases are associated with cryoglobulinemia?

A

SLE, chronic hep C, SLE
(Associated with anti-IgG Ab Rh)

142
Q

Paroxysmal nocturnal hemoglobinuria: a) what is the associated gene expression b) what are the findings c) what are 3 flow cytometry findings to remember?

A

A) decreased PIGA
B) decreased LAP score, intravascular hemolytic anemia, sometimes progresses to aplastic anemia/AML
C) decreased CD55, CD59, FLAER

143
Q

What is the autoantibody and what are the diseases associated with paroxysmal COLD hemoglobinuria?

A

igG anti-P
Viral and syphilis infections

144
Q

Each class of of fire extinguishers (A, B, C, D) are used to eliminate what type of fires?

A

A: pAper fires (paper, wood, cloth)
B: BBQ (flammable liquid, ie gasoline)
C: eleCtriCal
D: combustible meDal/metals (Na, K, Mg, etc)

145
Q

Dark mucocutaneous lesions, hamartomatous polyps, sex cord tumor(female), large calcifying Sertoli tumor(male), and adenoma malignum of cervix - what syndrome?

A

Peutz-Jeghers

146
Q

What is the most specific test for lead poisoning?

A

Serum erythrocyte zinc protoporphyrin (elevated)

147
Q

Monoclonal IgM serum paraproteinemia and hyperviscosity syndrome, think what disease? What is it associated with?

A

Waldenstrom macroglobulinemia

Lymphoplasmacytic lymphoma

148
Q

What is a) Carney syndrome/complex and b) Carney’s triad?(what are their mutations and associated tumors/disease)

A

a) PRKAR1A
Myxomas, pigmented lentiginosis, blue nevi, schwannomas, pituitary adenomas

b) SDHC hypermethylation
GIST, pulmonary chordoma, extra-adrenal paraganglioma

149
Q

How to differentiate Merkel cell carcinoma from neuroendocrine tumors (IHC)?

A

Both will have synapto, chromo; but Merkel cell carcinoma will be NF+ and PERINUCLEAR CK20+

150
Q

What is the difference between leukocytoclastic vasculitis and Sweet’s syndrome?

A

both have perivascular and dermal neutrophilic inflammation, but LCV has fibrinoid necrosis of vessels as well