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