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Fellowship and boards study > Boards Facts > Flashcards

Boards Facts Flashcards

1
Q

Genetic syndromes with increased risk of rhabdomyosarcoma

A

li-fraumeni syn
costello syn
NF1
beckwith-wiedemann syn

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2
Q

Two most useful stains for rhabdomyosarcoma

A

desmin +

myogenin +

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3
Q

positive stains in leiomyosarcoma

A

desmin, h-caldesmon, SMA, MSA

need positivity of at least 2

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4
Q

angiosarcoma risk factors

A

radiation, vinyl chloride, coal dust

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5
Q

pathognomonic feature histologically for angiosarcoma

A

intracytoplasmic lumina

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6
Q

What % of malignant peripheral nerve sheath tumors occur in NF1 patients

A

25-30%

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7
Q

Most common nerves affected by MPNST

A

vagal and vestibular cranial nerves

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8
Q

malignant triton tumor components

A

MPNST and rhabdomyosarcoma

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9
Q

recurrent PAX3-MAML3 gene fusion is seen in

A

Biphenotypic sinonasal sarcoma

t(2;4)

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10
Q

PAX3-FOX01 and PAX3-NCOA1 can be found in what two neoplasms

A

alveolar rhabdomyosarcoma

biphenotypic sinonasal sarcoma

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11
Q

most common non-rhabdomyosarcoma soft tissue sarcoma in children, adolescents and young adults is?

A

synovial sarcoma

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12
Q

greatest risk factor for synovial sarcoma

A

prior radiotherapy

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13
Q

What mutation is associated with sporadic cases of desmoid-type fibromatosis

A

CTNNB1 (85%) of sporadic cases

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14
Q

severe oncogenic osteomalacia has been reported in association with what lesion?

A

sinonasal glomangiopericytoma

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15
Q

What region of the beta-catenin gene is specifically implicated in glomangiopericytoma

A

GSK3beta region

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16
Q

3 risk factors (or associated factors) for development of hemangiomas

A

injury
hormonal factors
drug (vemurafenib)

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17
Q

Hemangiomas have a greater association with what genetic syndromes

A

sturge-weber syndrome

von hippel lindau disease

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18
Q

T/F angiosarcomas may arise within hemangiomas

A

false- angiosarcomas arise de novo

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19
Q

What is Horner syndrome and what lesion may cause this presentation

A

oculosympathetic palsy- decreased pupil size, a drooping eyelid and decreased sweating on the affected side of your face
“miosis, ptosis, anhidrosis”
-Caused by many things, one being tumors in the area and particularly a sinonasal schwannoma

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20
Q

What tumor of the sinonasal tract has a left sided predominance

A

meningioma

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21
Q

chondromesenchymal hamartoma may be the presenting sign for what genetic syndrome

A

pleuropulmonary blastoma-associated DICER1 familial tumor susceptibility syndrome

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22
Q

third most common sinonasal malignancy

A

sinonasal lymphoma

1. SCC 2. adneocarcinoma

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23
Q

What populations are more greatly affected by sinonasal extra nodal NK/Tcell lymphoma

A

east asian

indigenous populations of mexico, central and south america

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24
Q

two most common hematolymphoid tumors of the sinonasal region

A

extranodal NK/T cell lymphoma

DLBCL

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25
Q

what gene and polymorphism indicates increased susceptibility to NK-T Cell lymphoma

A

lymphotoxin alpha (LTA) +252 (AG) polymorphism

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26
Q

CIC-DUX4 fusion has been identified in what tumor?

A

ewing
**this may end up being a distinct tumor entity in the future as these tumors are also not diffusely positive with CD99 (they show membranous CD99 positivity)

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27
Q

what heritable tumor may predispose patients to ewing sarcoma

A

heritable retinoblastoma

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28
Q

What staging system is used for ewing sarcoma?

A

intergroup rhabdomyosarcoma study group staging system (IRSG)

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29
Q

What structure is nearly always involved in olfactory neuroblastoma

A

cribriform plate

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30
Q

Classic radiographic features of olfactory neuroblastoma

A
  • dumbbell shaped mass extending across the cribriform plate
  • peripheral tumor cysts
  • speckled calcifications
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31
Q

What staging system is most appropriate for olfactory neuroblastoma

A

OLD: Kadish system and/or with Morita modification
CURRENT: Hyams et al (grade 1- most differentiated to grade 4= least differentiated)

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32
Q

What mutation is most common in mucosal type melanomas

A

KIT mut/amp

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33
Q

Populations at highest risk for nasopharyngeal carcinoma

A

chinese from southeast asia
inuit
northern africans

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34
Q

risk factors for non-keratinizing nasopharyngeal carcinoma

A

-high consumption of salted and fermented foods with high nitosamine content (non-keratinzing, endemic subtype)
“salted fish”
-EBV

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35
Q

Risk factors for keratinizing subtype of nasopharyngeal carcinoma

A

similar to other areas of keratinizing SCC- tobacco and alcohol

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36
Q

most common site of origin for nasopharyngeal carcinoma

A

pharyngeal recess (fossa of rosenmuller)

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37
Q

most common palpable node at presentation with nasopharyngeal carcinoma

A

jugulodigastric

*generally involves the posterior chain more freq than other head and neck carcinomas

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38
Q

What HLA types are associated with high risk of NPC

A

In chinese populations: HLA-A02 and HLA-B46

HLA-A*0207

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39
Q

Diagnostic serology tests used to aid in the diagnosis of nasopharyngeal carcinoma

A

IgA to EBV viral capsid
IgG/IgA to early EBV antigens
-Can use circulating plasma levels of EBV to monitor disease control

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40
Q

most common salivary gland malignancy affecting the nasopharynx

A

adenoid cystic carcinoma

-comprise 1/4 of all adenocarcinomas at this site

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41
Q

Population affected by salivary gland anlage tumor

A

INFANTS

male predilection

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42
Q

What is the presenting sign for SGAT

A

respiratory distress due to nasal airway obstruction (in an infant)

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43
Q

You suspect a pituitary adenoma, what stains would be positive

A

synapto, some combo of hormones (GH, LH, prolactin, ACTH, TSH, FSH)

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44
Q

anterior pituitary tumors/pituitary adenomas are a component of what diseases/syndromes

A
  • gigantism (producing GH)
  • acromegaly (producing GH)
  • can be a cause of hyperthyroidism if producing TSH
  • cushings (producing ACTH)
  • MEN1
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45
Q

Sheehan syndrome

A

postpartum necrosis of the anterior pituitary

-during pregnancy ant pituitary enlarges for prolactin production

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46
Q

craniopharyngioma originates from what structure

A

remnants of rathke cleft

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47
Q

What nasopharyngeal tumor contains brown “machine-oil” fluid

A

craniopharyngioma

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48
Q

Paragangliomas should be distinguished from what malignant tumors and by what stains

A

DDX depends on the location of the tumor: middle ear, carotid body(neck), laryngeal, metastatic (usually bone, liver, lung)

Generally nothing else stains positive for neuroendocrine markers with the specific pattern of S100+ sustentacular cells in the typical zellballen morphology

Can additionally R/o

  • metastatic renal cell carcinoma: PAX8+
  • medullary thyroid carcinoma: calcitonin +
  • Alveolar soft part sarcoma: neuroendocrine marker negative, TFE3+
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49
Q

syndromes associated with paragangliomas

A 
Hereditary paragangliomatosis
NF1
MEN2A
MEN2B
von hippel lindau
carney stratakis syndrome
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50
Q

What ancillary test (after imaging) could be helpful in the diagnosis of nasopharyngeal angiofibroma

A

angiography- considered diagnostic

shows the feeding vessel: typically internal maxillary artery

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51
Q

The stromal cells of nasopharyngeal angiofibroma are positive for what two stains (typically)

A

AR

beta-catenin

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52
Q

Few reports of nasopharyngeal angiofibroma arising in association with what syndrome

A

familial adenomatous polyposis

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53
Q

Stains and expected pattern of staining for nasopharyngeal angiofibroma

A

AR+, nuclear b-catenin + stromal cells

CD31, CD34 + vessels

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54
Q

What 4 features are evaluated at the invasive front of a SCC as part of the total malignancy score

A

degree of keratinization
nuclear polymorphism
pattern of growth
inflammatory response

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55
Q

church spire keratosis has been used to describe the surface features of what neoplasm

A

verrucous carcinoma

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56
Q

What neoplasm does a chordoma histologically resemble? How can you differentiate these two entities

A

myoepithelioma

  • brachyury + chordoma
  • chordoma classic locations: clivus, sacrum
  • chordoma foamy/bubbly cells: physaliferous cells
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57
Q

neoplasms of pericytes

A

myopericytoma

glomus tumor

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58
Q

pleomorphism in general like in undifferentiated pleomorphic sarcoma are a sign of what genetic aberration

A

anueploidy

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59
Q

Most neuroendocrine carcinomas of the larynx are _____ differentiated and have a _____ predilection

A 
moderately differentiated (second most common poorly-diff)
male
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60
Q

Other than medullary thyroid carcinoma, what malignancy may express calcitonin and thus create a diagnostic pitfall (especially in cases of lymph node involvement)

A

well-mod neuroendocrine carcinoma

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61
Q

greatest risk factor for neuroendocrine carcinoma of the larynx

A

smoking

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62
Q

DNA coating of vessel walls in a poorly differentiated neuroendocrine carcinoma (or other malignancy) is termed?

A

azzopardi phenomenon

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63
Q

Adenoid cystic carcinoma developing in the trachea may mimic the symptoms of?

A

asthma

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64
Q

most common salivary gland malignancy of the larynx, hypopharynx, trachea

A

adenoid cystic carcinoma

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65
Q

cell of origin for oncocytic papillary cystadenoma

A

minor salivary duct cell

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66
Q

soft tissue granular cell tumors show ______ cell differentiation

A

schwann

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67
Q

What population is most affected by tracheal granular cell tumors

A

black
female
* other sites do not show this predilection

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68
Q

What two markers are positive in >90% of well-diff(atypical lipomatous tumor) and dedifferentiated liposarcoma

A

MDM2

CDK4

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69
Q

SMA+ spindle cell tumor with plump spindle cells with open chromatin, can have prominent nucleoli numerous lymphocytes, plasma cells, +/- eosinophils and neutrophils, is characteristic of what tumor?
-Helpful molecular testing?

A

inflammatory myofibroblastic tumor

ALK- IHC ctyoplasmic staining

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70
Q

What population and location is most common for IMT

A

children and young adults in the abdomen or pelvis

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71
Q

ALK positivity can be seen in what neoplasms

A
  • IMT
  • Lung adeno
  • Anaplastic large cell lymphoma
  • Epitheliod histocytoma
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72
Q 
WEll circumscribed
lesion smaller than 3 cm
pockets of myxoid mucinous degeneration
areas of thick fibrous tissue
spindle cells in short fascicles
scattered extravasated RBCs
common mitoses
keloidal collagen
A

Nodular fascitis

*random bizarre appearing cells that are hyperchromatic are actually atrophic muscle cells with multiple nuclei

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73
Q

tram-track pattern of staining with SMA in a spindle cell neoplasm is classic of what entity?

A

nodular fasciitis

**though immunohistochemistry typically not needed

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74
Q

most common site fir laryngeal chondromas

A

cricoid cartilage

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75
Q

What population is most affected by chondromas and chondrosarcoma

A

white»black 7:1

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76
Q

Predisposing factors for chondrosarcoma

A

radiotherapy, polytetrafluoroethylene injection (teflon), repeated trauma

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77
Q

What is the typical size cut off for chondroma

A

typically <2cm

chondrosarcomas tend to be larger (3.5-12cm)

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78
Q

What do chondroid cells stain positive for

A

D240, s100

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79
Q

Oral cancer rates are higher in males in every country except

A

India

THailand

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80
Q

Which types of SCC have a worse prognosis when compared to conventional SCC

A

spindle cell, adenosquamous carcinoma

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81
Q

Syndromes that increase the risk of oral SCC

A

li fraumeni syndrome
fanconi anemia
dyskeratosis congenita

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82
Q

Chromosomal losses typical of OSCC

Chromosomal gains typical of OSCC

A

losses: 3p, 9p, 8p, 17p
gains: 3q, 11q

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83
Q

Genes reported to have a role in OSCC

A

TP53, CDKN2A, PTEN, HRAS, PIK3CA

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84
Q

Prevalence of leukoplakia in western countries, prevalence globally?

A

1-4%

2-3%

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85
Q

Prevalence of oral erythroleukoplakia

A

0.02-.83%

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86
Q

Erythroplakia is most common at what sites

A

soft palate, FOM, buccal mucosa

87
Q

Mean transformation rate for leukoplakia

A

1-2%

88
Q

Mean transformation rate of cases with diagnosis epithelial dysplasia

A

12%

89
Q

Prognostic markers for malignant transformation of oral potentially malignant disorders

A

Additional factors associated with increased risk for malignant transformation
○ Female gender
○ Older age
○ Nonsmoking status
○ Lesion persistence for several years
○ Extensive lesion size
○ Involvement of ventrolateral tongue or FOM16 - 39% rate of malignant transformation, 47% in females
○ Loss of heterozygosity (LOH) of chromosomes arms 3p and 9p
○ Additional LOH at 4q, 8p, 11q, 13q, and 17p
○

90
Q

15 year transformation rates for mild, moderate, and severe dysplasia

A

mild: 6%
mod: 18%
severe: 39%

91
Q

Homozygous inactivation of what gene is implicated in PVL

A

CDKN2A (aka P16INK4a, P14ARF)

gene codes for tumor suppressor proteins p16 and p14ARF

92
Q

Mortality rate of PVL

A

30-40%

93
Q

most common hpv lesion of the skin

A

verruca vulgaris

types 2,4,40,57

94
Q

neumann tumor is another name for

A

congenital granular cell tumor

95
Q

rod shaped cytoplasmic crystals also called jack straws are characteristic of what neoplasm

A

adult rhabdomyoma

96
Q

Strap cells are seen in what neoplasm

A

adult rhabdomyoma

-eosinophilic cytoplasm, with occasional striations

97
Q

Aberrations in what gene have been reported in fetal rhabdomyoma

A

PTCH1

98
Q

Most common site for lymphangiomas intraorally

A

dorsum of the tongue

99
Q

Malformations of lymphatic vessels and vascular anomalies are common in what syndrome? What somatic activating mutation is responsible for this syndrome?

A

Proteus syndrome

AKT1

100
Q

Genetic disorders associated with lymphangiomas

A

Proteus syndrome
Turner syndrome (45,X syndrome)
Trisomy 21

101
Q

Most common benign tumor of the oral cavity in peds population

A

hemangioma

102
Q

Hemangiomas are frequently associated with what genetic abnormality

A

full or partial polysomy 13

103
Q

“shredded carrots” appearance of the collagen bundles is characteristic of what lesion

A

Neurofibroma

104
Q

What % of HIV infected individuals develop oral kaposi sarcoma

A

20%

105
Q

Checkerboard-like infiltration of adjacent voluntary muscle by a cellular spindle cell population with atypical hyperchromatic nuclei, variable SMA+, desmin+, calponin+, CD34+ describes what neoplasm?

A

Myofibroblastic sarcoma

106
Q

Most common head and neck site for involvement by myeloid sarcoma

A

oral cavity

107
Q

Most immunodeficiency associated lymphomas are _____+

A

EBV+

108
Q

What cell is characteristic of anaplastic large cell lymphoma

A

Cells with horseshoe / kidney / embryo shaped nuclei

109
Q

What stains typically mark the T cells of CD30-positive t cell lymphoproliferative disorder

A

CD30+ diffuse

-Cytotoxic t cell markers: TIA1, granzyme B, perforin

110
Q

What may also be on your differential on a biopsy specimen of suspected CD30 positive T cell lymphoproliferative disorder

A

TUGSE (though there should not be the population of clear tumor cells)

  • EBV+ mucocutaneous ulcer (EBER positive)
  • Anaplastic large cell lymphoma (due to some of the cells appearing like hallmark cells) but this is almost always ALK positive
111
Q

EBV infection is none to cause a surge in what type of cell population

A

plasmablasts

112
Q

MYC aberrations occur in half of the cases of what type of lymphoma

A

plasmablastic lymphoma

burkitt lymphoma

113
Q

Genetics associated with extramedullary myeloid sarcoma

A

monosomy 7
trisomy 8
t(8;21) peds patients

114
Q

Oropharyngeal SCC arises from what type of epithelium?

A

crypt

115
Q

what somatic mutation is unique to OPSCC-HPV related

A

TRAF3

PIK3CA is more common in OPSCC-HPV+ than OPSCC-HPV-

116
Q

Most common extranodal head and neck site for lymphoma

A

waldeyers ring

117
Q

Elevation of what product in the serum is associated with poorer prognosis in patients with lymphoma

A

lactate dehydrogenase

118
Q

Stains for Hodgkin lymphoma

A

positive: PAX5, CD30, CD15
negative: CD20, CD79a

119
Q

Stains for DLBCL

A

CD20, CD10, BCL6, MYC

120
Q

Mantle cell lymphoma is characterized by what translocation? resulting in over expression of what?

A

CCND1 translocation

cyclin D1 overexpression

121
Q

Stains for mantle cell lymphoma

A

positive: CD20, CD5, SOX11, cyclin D1
negative: Cd10, CD23, BCL6

122
Q

Most common anatomical site for follicular dendritic cell sarcoma

A

head and neck region, specifically cervical lymph nodes > waldeyers ring

123
Q

Features of unicentric castleman disease

A

more common than multicentric, benign, limited to one lymph node

124
Q

Features of Multicentric castleman disease

A

systemic process, often associated with infection (HIV, HHV-8), malignancy (lymphomas and Kaposi sarcoma) and plasma cell disorders (POEMS syndrome and amyloidosis)

125
Q

15% of follicular dendritic cell sarcomas arise in the setting of what (typically benign) disorder

A

Castleman disease

126
Q

Positive markers in follicular dendritic cells (such as in follicular dendritic cell sarcoma)

A

CD21, CD23, CD35, clusterin, CXCL13, podoplanin

127
Q

Merkel cell carcinoma arises in association with what other malignancies in as many as 36% of cases

A

CLL/SLL

128
Q

positive staining by CD30, CD15, and PAX5 is helpful in identifiying

A

hodgkin lymphoma cells

129
Q

The international prognostic index for NHL consists of what criteria

A 
clinical stage
serum lactate dehydrogenase
patient age
performance status
involvement of extranodal sites
130
Q

chicken wire calcifications are a classic feature of

A

chondroblastoma

131
Q

storiform pattern is typical of

A

fibrous histiocytoma

DFSP

132
Q

Hemangiopericytic vessels are common in

A 
SFT
Monophasic synovial sarcoma
biphenotypic sinonasal sarcoma
mesenchymal chondrosarcoma
nasopharyngeal angiofibroma
DFSP
133
Q

Invasive spindle cell neoplasm with entrapped epithelial proliferations. Arising in the nasal cavity. Stains positive: actin, S100. Diagnosis?

A

Biphenotypic sinonasal sarcoma

134
Q

A reported case of ghost cell odontogenic carcinoma demonstrated a novel mutation in _____ gene, suggesting a possible link between this neoplasm and what syndrome

A

APC gene

Gardner syndrome

135
Q

Most common site affected by osteosarcoma

A

metaphysis of long bones of children and adolescents (femur, tibia, humerus)

136
Q

What stains may help distinguish low grade osteosarc from fibro-osseous mimics

A

MDM2
CDK4
amplification

137
Q

syndromes increasing the risk for osteosarcoma

A

li-fraumeni
werner syndrome (adult progeria)
retinoblastoma
rothmund-thompson(poikiloderma atrophicans with cataract)

138
Q

Molecular findings in DFSP

A

COL1A1 PDGFB fusion

t(17;22)

139
Q

Classic location for chondroblastoma

A

epiphysis of long bones

140
Q

multiple CGCGs should raise suspicion for

A

Noonan syndrome
LEOPARD syndrome
NF1
**they separate out cherubism from this condition in WHO

141
Q

CGCGs arising in the setting of NF1, Noonan, or LEOPARD are more likely to demonstrate germline mutation in what pathway

A

RAS/MAPK

142
Q

cupping or shallow indentation of the bone is a characteristic finding of what gingival lesion

A

PGCG

143
Q

One third of simple bone cysts have been found in association with what condition

A

florid osseous dysplasia

144
Q

Minimal bone marrow involvement in a case of solitary plasmacytoma of bone is defined as

A

10%

> or = 10% clonal is BM qualifies as multiple myeloma

145
Q

Predominant etiology of pinna associated carcinoma

A

frost bite

actinic overexposure

146
Q

Suggested etiologies for carcinomas of the external auditory canal and middle ear

A

radiation exposure and chronic inflammation

147
Q

ceruminous glands are located?

A

external auditory canal

wax producing glands of the ear

148
Q

Which malignant salivary gland neoplasms have an analogous counterpart that develops in the ceruminous glands of the external auditory canal

A

adenoid cystic carcinoma
mucoepidermoid carcinoma

-if you see adenocarcinoma of the ear that does not fit either of these definitions it is diagnosed as just adenocarcinoma or ceruminous adenocarcinoma

149
Q

Distinguishing feature between: Ceruminous adenocarcinoma vs ceruminous adenoma

A

ceroid pigment- present in adenoma absent in adenocarcinoma

150
Q

predominant location and population for middle ear SCC

A

left ear of elderly men

151
Q

Patients with sporadic endolymphatic sac tumor in the temporal bone should be evaluated for what genetic finding

A

VHL gene mutation

von-hippel lindau

152
Q

acquired cholesteatoma is thought to be caused by

A

recurrent infections, blast injury to tympanic membrane

153
Q

vestibular schwannomas arise in what part of the ear

A

internal auditory canal or labyrinth

154
Q

most common tumor of the temporal bone

A

vestibular schwannoma

155
Q

meningiomas are well described in what genetic disorder

A

NF2

156
Q

tumor of the middle ear with duct-like structures that stains positive for neuroendocrine markers including ISL1(aberrant neuroendocrine marker)

A

middle ear adenoma

157
Q

what lesion has the highest degree of heritability among human neoplasms

A

paragangliomas

158
Q

risk factors for carotid body paraganglioma

A 
high altitude (chronic hypoxia)
female gender (8:1 at high altitudes)
159
Q

two cell types of paragangliomas and the corresponding stains to highlight them

A

chief cells: chromo, synapto, CD56, somatostatin

sustentactular cells: S100

160
Q

3 genes associated with inheritance of paraganglioma (but only when inherited from the father)

A

SDHD, SDHAF2, MAX

161
Q

SDHC mutation is associated with

A

single head and neck paragangliomas

162
Q

SDHD mutation is associated with

A

multiple paragangliomas, 85% have carotid body paraganglioma

163
Q

What is the 3 P association of SDH gene defects

A

paraganglioma, pituitary adenoma, pheochromocytoma

164
Q

Carney-Stratakis syndrome

A

SDH(succinate dehydrogenase) mutations

paraganglioma and gastrointestinal stromal tumor

165
Q

Carney triad

A

paraganglioma
GIST
pulmonary chondroma

166
Q

Syndromic associations to paragangliomas

A

MEN2
NF1
von hippel lindau
paraganglioma syndromes 1-5

167
Q

What paraganglioma mutation yields highest rate of recurrence and highest mortality

A

SDHB

168
Q

Accessory tragus is associated with what syndrome

A

Goldenhar

oculoauriculovertebral dysplasia

169
Q

second most common benign salivary gland tumor

A

warthin tumor

170
Q

CYLD cutaneous syndrome is a new name for what? What are the characteristic features

A

brooke spiegler syndrome

-trichoepitheliomas, dermal cylindromas, spiradenomas, AND membranous basal cell adenomas

171
Q

Mitral valve prolapse is commonly seen in what conditions and syndromes

A 
Down,
Marfan,
Ehler-­‐Danlos
syndromes
and
Rheumatic
heart
disease
172
Q

most common salivary gland tumor in the pediatric population

A

hemangioma

173
Q

What autoantibody is implicated in hashimotos thyroiditis

A

Auto-­‐antibody is anti-­‐thyroidal anti-­‐microsomal antibody
(ATAMAB)

174
Q

Cholesteatomas are predominantly found in what part of the ear

A

middle ear

175
Q

Mitral valve prolapse is commonly seen in what conditions and syndromes

A 
Down,
Marfan,
Ehler-­‐Danlos
syndromes
and
Rheumatic
heart
disease
176
Q

what cells secrete calcitonin

A

parafollicular aka C cells of the thyroid

177
Q

What autoantibody is implicated in hashimotos thyroiditis

A

Auto-­‐antibody
is anti-­‐thyroidal anti-­‐microsomal antibody
(ATAMAB)

178
Q

What serum tests would be helpful in monitoring treatment effects for medullary thyroid carcinoma

A

calcitonin

CEA- carcinoembryonic antigen

179
Q

Cause of graves disease

A

autoantibody against TSH receptor

180
Q

What syndromes result in an increased risk of papillary thyroid carcinoma

A

Cowden

Gardners

181
Q

medullary thyroid carcinoma is a component of what syndromes

A

MEN2A, 2B, familial MTC syndrome

182
Q

What serum tests would be helpful in monitoring treatment effects for medullary thyroid carcinoma

A

calcitonin

CEA- carcinoembryonic antigen

183
Q

Characteristic background element present in medullary thyroid carcinoma

A

amyloid- 80% of cases

184
Q

staining panel for medullary thyroid carcinoma

A

Positive: TTF1, CK7, PAX8, Calcitonin, Chromo, synapto
Negative: thyroglobulin

185
Q

most common tumor of the appendix

A

carcinoid- usually incidental

186
Q

Volvulus definition

A

bowel obstruction with twisting of a loop of bowel

187
Q

HLAs most strongly associated with celiac disease

A

HLA-DQ2 and DQ8.

188
Q

Mallory-Denk body

A

Mallory-Denk body, and Mallory’s hyaline, is an inclusion found in the cytoplasm of liver cells. Mallory bodies are damaged intermediate filaments within the liver cells.
Associated with multiple causes of chronic liver disease

189
Q

most common benign tumor of the female breast

A

fibroadenoma

190
Q

malakoplakia is a rare inflammatory condition thought to be caused by ______?

A

bactericidal defect in macrophages

191
Q

What organ undergoes liquefactive necrosis rather than coagulative necrosis when faced with ischemia/infarct

A

brain

192
Q

most important risk factor for renal cell carcinoma

A

smoking

193
Q

case of a child with abdominal pain and a fever– what is the most likely diagnosis they are going for

A

wilms tumor

194
Q

malakoplakia is a rare inflammatory condition thought to be caused by ______?

A

bactericidal defect in macrophages

195
Q

conditions with increased risk of leukemia

A 
Down syndrome
bloom syndrome
NF1
Klinefelter
fanconi anemia
schwachman(diamond) syndrome
ataxia-telangiectasia
wiskott-aldrich syndrome
196
Q

What is the rule of 10s pertaining to pheochromocytoma

A

10% bilateral
10% extra-adrenal
10% malignant (defined by metastasis)
10% not associated with HTN

197
Q

MAGIC syndrome features

A

Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome refers to a condition in which features of Behcet’s disease (BD) and relapsing polychondritis (RP) occur in the same individual.

198
Q

erythema nodosum causes

A

Lofgren syndrome
valley fever
behcets

199
Q

port wine stain is a features of what syndromes

A

sturge weber
beckwith-wiedemann
hemihyperplasia

200
Q

Causes of leonine facies

A 
leprosy
pagets
amyloiodosis
mycosis fungoides
lipoid proteinosis
201
Q

benign nodules of the skin that cause pain

A 
angiolipoma
neuroma
glomus tumor
eccrine spiradenoma
leiomyoma
202
Q

Pheochromocytomas are a feature of what syndromes

A 
men 2a
men 2b
NF1
Sturge-weber
von hippel lindau
203
Q

port wine stain is a features of what syndromes

A

sturge weber
beckwith-wiedemann
hemihyperplasia

204
Q

syndromes with seizures

A

sturge weber
tuberous sclerosis
incontinetia pigmenti
mucopolysaccharidosis

205
Q

what cell surface molecule on epithelial cells can bind to EBV

A

CD21

206
Q

HPV strains in butcher warts

A

7, 32

207
Q

Most common bone affected by adamantinoma

A

tibia

  • presents as a painful mass
  • low grade malignancy
  • highlight epithelial type cells in the bony stromal background with CKs (fibrous dysplasia or osseous dysplasia should not have CK positive background cells)
  • osteofibrous dysplasia-like stromal component with small, often inconspicuous epithelial nests.
208
Q

Supernumerary teeth are a feature of what syndromes

A 
cleidocranial dysplasia
gardners
sturge weber
apert
crouzan
209
Q

sunburst radiographic change can be seen in:

A

osteosarc
chondrosarc
hemangioma
MNTI

210
Q

clear cell neoplasm of the jaw DDX

A

clear cell odontogenic carcinoma
ameloblastoma (must find some peripheral palisading)
mucoep (mucicarmine stain)
CEOT- amyloid stain
met- renal (PAX8), breast(GATA3), melanoma(HMB45)

211
Q

Most common bone affected by adamantinoma

A

tibia

  • presents as a painful mass
  • low grade malignancy
212
Q

most common salivay gland tumor in the pediatric population

A

PA (benign)
Mucoep (malignant)

213
Q

Syndromes associated with pituitary adenoma include:

A

multiple endocrine neoplasia (MEN) syndromes MEN1 and MEN4, Carney complex(rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin and endocrine system), McCune-Albright syndrome, X linked acrogigantism (XLAG), hereditary pheochromocytoma and paraganglioma syndrome related to succinate dehydrogenase (SDH) genes

Fellowship and boards study (8 decks)

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