AP Questions Part 2 Flashcards
Basal cell carcinomas, OKCs, medulloblastoma, ovarian fibromas, and skeletal deformities - what syndrome? What mutation?
Gorlin syndrome, PTCH gene
(Think Head + skin/st)
Lynch syndrome (GI, endometrial, ovarian ca) + sebaceous adenomas and carcinomas and keratoacanthomas, what syndrome + mutations?
Muir-Torre syndrome, MLH1 and MSH2
(TORRid = fat = sebaceous, eat a KERAT)
Fibrous dysplasia, skin pigmentation, endocrine abnormalities, think what syndrome? Mutation?
McCune Albright syndrome
GNAS1 (GNASh your teeth)
Hamartomas, soft tissue and skin tumors, trichilemmomas, breast cancer, what syndrome? Mutation?
Cowden syndrome (tricheleMOOmas: Cowden, plus basal edges look like udders of a cow)
PTEN
Enchondromas dedifferentiating into chondrosarcomas, hemangiomas dedifferentiating into angiosarcomas, what syndrome?
Maffucci’s syndrome
Enchondromas dedifferentiating into chondrosarcoma, what syndrome?
Ollier’s syndrome
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) health hazard
B) flammability hazard
C) instability hazard
D) special hazards (ie alkalinity, oxidation, radioactivity, rxn with water etc)
What is the most common mutation of adenoid cystic carcinoma? Within what body part is it the most common tumor?
MYB-NFIB fusion (the B’s are gloBules)
The palate
What is the most common EXTRAcranial solid tumor in kids? What 2 places does it metastasize?
Neuroblastoma, to bone marrow and skin
What do you see on cytology with pulmonary alveolar proteinosis?
Little to no inflammation, irregular clumps of PASD+ granular material, necrotic debris, foamy macrophages
What mutation is associated with lymphoplasmacytic lymphoma? What immunoglobulin is elevated?
MYD88
IgM (causes inclusions in nuclei/cytoplasm)
Hairy cell leukemia, what do you see on bone marrow aspirate? what is +IHC?
Aspirate: NOTHING (dry tap!)
CD11c, CD25, CD103, annexin-1
What tumors is INI-1 / SMARCB1 lost in?(6 groups)
Rhabdoid tumors, peripheral nerve sheath tumors, undifferentiated portions of neoplasms, *epithelioid sarcoma, renal medullary carcinoma, SMARCB1 deficient Sinonasal carcinoma
What disease involves mutation of a cAMP activated ATP-gated anion channel?
Cystic fibrosis
What is the difference between Diamond Blackman anemia and Fanconi anemia:
a) clinically
b) genetic inheritance
c) peripheral blood findings
d) marrow findings
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
Under CLIA, certificate of waiver allows an office or lab to perform what kinds of tests?
Low error prone tests, ie U/A, fingerstick glucose, H pylori, cholesterol, etc
Under CLIA, what is the difference between Certificate of Accreditation and Certificate of Compliance?
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
What 2 disorders is Alport’s syndrome associated with?
- Hematologic: megathrombocytopenia and granulocyte abnormalities
- Diffuse leiomyomatosis
What mutation is associated with neuroblastoma? Small cell lung carcinoma?
Neuro: N-myc
SCLC: n-myc and L-myc
Good prognosis factors for neuroblastoma?
a) age
b) mutation
c) location
a) <1 year
2) NO n-myc nut or 1q36 del
3) extra-adrenal
Turcot syndrome - what 2 groups of tumors and what mutation?
Polyposis and CNS tumors
PMS2
Kasabach-Merritt syndrome, think what tumor and what symptoms
Vascular (hemangioendothelioma or tufted angioma)
- Infant with thrombocytopenia, hemolytic anemia, consumptive coagulopathy
What is the difference between smoldering MM and active MM?
Smoldering: no organ impairment
Active: organ impairment (hypercalcemia, anemia, renal impairment, bone lesions)
- both need M protein >3 and BM plasma cells >10%
What is the most common site for granular cell tumor? What are 4 stains to remember?
Oral cavity
S100+, NSE+, Sudan black+, PAS-D+ granules
Disorder of alpha-galactosidase A that causes accumulation of sphingolipids and peripheral neuropathy? Inheritance?
Fabry disease, X-linked (all other lysosomal storage diseases are aut rec)
What disorder with mutation of galactosylceramidase results in accumulation of sphingolipids with fevers, failure to thrive?
Krabbe disease
Translocation (1;13) or (2;13) is seen commonly in what solid tumor?
Alveolar rhabdomyosarcoma
Birt-Hogg-Dube syndrome - what is the mutation and what 3 lesions should you think of?
FLCN (folliculin)
1) chromophobe carcinoma
2) pulmonary cysts
3) skin tumors (fibrofolliculoma, acrochordon, etc)
What kidney tumor is associated with sickle cell anemia?
Renal medullary carcinoma
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) papillary RCC
B) clear cell RCC
What is the cutoff size for papillary adenomas vs papillary RCC
1.5 cm
What 3 findings support diagnosis of adrenal cortical carcinoma over adenoma?
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
Hirschprung’s disease: what is the mutation? What happens to ganglion and nerve fibers on IHC?
RET mutation
Absent ganglion cells: calretinin-, NSE-, RET-
Increased nerve fibers: Acetylcholinesterase+
Causes of methemoglobinemia?
Antibiotics ie sulfonamides, nitrates, quinones
a) What mutations are SSA associated with? b) where are they predominantly located?
A) BRAF, KRAS, microsatellite instability
B) right colon
ASC/SIL ratio should not exceed what ratio to maintain quality assurance?
3:1
What stain differentiates Langerhans cell sarcoma from LCH?
CD56+ (the rest like cd1a, s100, langerin are same)
How is positive amplification of HER2 defined in a) single probe? b) dual probe?
a) >6 signals/cell
b) copy number >=6 OR >=4 + HER2/CEP17 >=2
Tyrosine crystals are seen most commonly in what salivary gland tumor?
Pleomorphic adenoma
What mutation is seen in Hailey Hailey disease and what is it?
ATP2C1 (encodes calcium protein pump causing defect in keratinocyte adhesion)
Benign familial pemphigus
Angiomyolipoma is associated with what condition and mutation?
Tuberous sclerosis, TSC2 mutation
What are the 2 most common causes of eosinophilic pleural effusion?
Malignancy and idiopathic
How does desmoplastic melanoma differ from conventional melanoma on IHC?
Desmoplastic is negative for HMB-45 and melan-A (is positive for S100 and SOX10)
(deSmoplastic)
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) forensics 1 year, non-forensics 3 months
b) forensics indefinitely, non-forensics 10 years
C) 1 year (forensics only)
D) indefinitely (forensics only)
What 2 stains highlight microglandular adenosis?
PAS for globules, S100 for epithelial lining
What is the mutation and main histo findings for autoimmune lymphoproliferative syndrome?
FAS mutation
CD4/8 lymphocyte increase, paracortical hyperplasia, polyclonal plasmacytosis
Endometriosis is associated with what two cancers?
Clear cell adenocarcinoma and endometrioid carcinoma
What is most common site of plasmacytoma outside bone marrow (extramedullary)?
Nasopharynx and oropharynx
How to differentiate partial and complete mole by IHC?
Partial mole: positive p57
Complete mole: negative p57 in villi (fetal tissue)
What happens in primary polycythemia Vera to 1) EPO 2) LAP 3) iron? 4) platelet studies?
1) decreased
2) increased
3) decreased
4) abnormal with thrombosis
(Opposite in secondary)
What disease are Mikulicz cells (large vacuolated macrophages) seen in?
Rhinoscleroma (chronic granulomatous bacterial disease of nose caused by Klebsiella rhinoscleromatis)
What disease are Michaelis-Gutmann bodies (concentric targetoid lamellations) and von Hansemann cells (histiocytes with granular eosinophilic cytoplasm) seen in?
Malakoplakia
What increases grade II (classic oligodendroglioma) to a grade III (anaplastic oligodendroglioma)
Mitosis index and microvascular proliferation
What is the most common benign tumor of the extrahepatic biliary tree?
Granular cell tumor
What does type I, II, and III paroxysmal nocturnal hemoglobinuria show for CD59 expression?
Type I: normal
Type II: partial expression/deficiency
Type III: complete deficiency
What is the most common location of NUT midline carcinomas?
Mediastinum
What salivary duct neoplasms have a) abundant mitochondria? B) antimitochondrial antibodies? C) amylase and anti-chymotrypsin?
A) Oncocytoma and warthin tumor
B) mucoepidermoid carcinoma
C) Acinic cell carcinoma
What is embryonal carcinoma positive for? Name 5 IHCs
CD30, PLAP, OCT3/4, SALL4, SOC2
What is the difference between Carney triad and Carney complex syndrome?
Carney triad: GIST, extra-adrenal paraganglioma, pulmonary chordoma
Carney complex: aut dom multiple endocrine neoplasia with myxomas, endocrine hyperactivity, blue nevus, and schwannoma
What tumors are associated with Garner syndrome?
Osteomas, fibromas, colon adenomas, Desmoid tumor