bananas's version from 2015-07-20 03:17

Tumor Suppressors and Pro-oncogenes

Question Answer
APC: cancerColorectal cancer (FAP)
BRCA1/BRCA2: cancerBreast and Ovarian cancer
BRCA1/BRCA2: mechanismDNA repair
DCC: cancerColon cancer
DCC: mechanismDeleted in Colon Cancer: Tumor suppressor gene
DPC4/SMAD4: cancerPancreatic cancer
DPC4/SMAD4: mechanismDeleted in Pancreatic Cancer
MEN1: cancerPituitary adenoma
Pancreatic cancer
Parathyroid (Zollinger Ellison, Insulinoma, VIPoma)
MEN1: mechanismMENin, tumor suppressor
NF1: cancerNeuroFibromatosis !
- Cafe au lait
- Pigmented iris
NF1: mechanismRas-GTPase activating protein
NF2: cancerNeuroFibromatosis type 2 (bilateral schwannomas)
NF2: mechanismMerlin (schwannomin) protein
p16: cancerMelanoma
p16: mechanismCDK inhibitor 2A
p53: cancerMost cancers
Li-Fraumeni syndrome
p53: mechanismTranscription factor for p21: Blocks G1→S
Main inducer of apoptosis
PTEN: cancerProstate
PTEN: mechanismTumor suppressor
Rb: CancerRetinoblastoma

Breast adenocarcinoma
Bladder carcinoma
SCC of lung
Rb: mechanismInhibits E2F: Blocks G1→S
Hyperphosphorylate: inactive (too heavy)
Hypophosphorylate: active
TSC1: cancerTuberous sclerosis
- Hamartoma (skin, CNS)
- Angiofibroma
- Ash leaf spots
- Rhabdomyoma
TSC1: mechanismHamartin protein
TSC2: cancerTuberous sclerosis
TSC2: mechanismTuberin protein
VHL: cancerVon hippel LIndau (Chromosome 3P)
- Bilateral RCC
- Hemangioblastoma
- Pheochromocytoma
VHL: mechanismInhibits hypoxia inducible factor 1a (tumor suppressor)
WT1/WT2: cancerWilm's Tumor (Nephroblastoma)
- Large palpable, unilateral mass in children

Markers in Leukemias and Lymphomas

Question Answer
t(8,14)Burkitt's Lymphoma: c-Myc and heavy chain Ig
t(11,14)Mantle cell lymphoma: cyclin D1 and heavy chain Ig
t(14,18)Follicular lymphoma: Bcl-2 and heavy chain Ig
t(12,21)ALL in children: better prognosis
t(15,17)AML M3 (Acute Promyelocytic): RAR
t(9,22)Philadelphia chromosome!! Bcr-Abl
- ALL: Adult form with worse prognosis
MPO+AML M3 (Acute Promyelocytic)
JAK2Myeloproliferative disorders:
- Polycythemia Vera
- Essential thrombocyopenia
- Myelofibrosis
IgG M-spikeMultiple myeloma
IgM M-spikeWaldenstrom's Macroglobulinemia
TRAPHairy cell B cell leukemia
Bcr-AblPhiladelphia Chromosome t(9,22): CML
Bcl-2t(14,18): Follicular lymphoma
Cyclin D1t(11,14): Mantle cell lymphoma
c-Myct(8,14): Burkitt's lymphoma


Question Answer
Auer rods: AML M3 (Acute Promyelocytic)
Smudge cell: CLL
Hairy cell
Acute Leukemia: Punched out vacuoles
<20% blastsAcute Leukemia
Down's <5 y.o.AML t(8,21)
RAR MutationAML t(8,21) M3 t(15,17)
What population is affected with AML?50-60 y.o.
Risk factors for AMLRadiation
Alkylating agents
AML are at risk forDIC
CD13/33 +AML
Down's syndrome >5 y.o.ALL t(12,21)
Bone painALL
Philadelphia chromosome causing LeukemiaB-ALL t(9,22)
Thymic mass in TeenagerT-ALL
<5% BlastsChronic Leukemia
MC Leukemia in adultsCLL
Autoimmune hemolytic anemiaCLL
Prognosis of CLLInsidious but may progress to AML/ALL (Blast crisis)
Signs of CMLSplenomegaly
TRAPHairy cell leukemia
Negative for LAP (Leukocyte Alkaline Phosphatase)CML
Peroxidase +AML
Solid sheets of lymphoblasts in bone marrowALL


Question Answer
Who gets Hodgkin's?Bimodal males (20, 65)
- except Nodular Sclerosing in women too
Low grade fever+night sweats+weight loss+pruritusHodgkin's B symptoms
EBVHodgkin's, Burkitt's
MC Hodgkin'sNodular Sclerosing
Reed-Sternberg: Hodgkin's lymphoma
- More RS cells correlates with worse prognosis
Best prognosis Hodgkin'sLymphocyte rich
Nodular Sclerosing
Worst prognosis Hodgkin'sLymphocyte poor
Mixed cellularity
Lacunar cells: Nodular Sclerosing Hodgkin's lymphoma
Who gets NonHodgkin's20-40 y.o.
Starry nightBurkitt's (NH) Lymphoma T(8,14)
Jaw lesionBurkitt's (NH) lymphoma T(8,14): African
Lymphadenopathy in abdomenBurkitt's (NH) lymphoma T(8,14): Sporadic
EBVBurkitt's (NH) lymphoma: T(8,14)
MC NonHodgkin LymphomaDiffuse Large B-cell Lymphoma t(3,14)
Enlarging mass anywhere in the bodyDiffuse Large B-cell Lymphoma t(3,14)
Marginal lymphoma is associated withH. pylori Maltoma
Hashimoto thyroiditis
Worst prognosis NH LymphomaMantle (NH) lymphoma t(11,14): 3 year survival
IndolentFollicular (NH) lymphoma t(14,18)
Dysregulates D1Mantle (NH) lymphoma t(11,14)
HTLVAdult T cell (NH) lymphoma
Adults (esp Japan/West Africa/Carribean)Adult T cell (NH) lymphoma
Rash, Lymphadenopathy, Lytic lesionsAdult T cell (NH) lymphoma\
Cutaneous rash+NodulesMycosis fungoides
What defines Sezary syndromeHematogenous spread
Sezary cell: Sezary syndrome

Myeloproliferative Disorders and Myelodysplastic Syndromes

Question Answer
Multiple Myeloma: Clock face chromatin plasma cells
Multiple Myeloma: Rouleaux formation
Multiple Myeloma: Lytic bone lesion
Symptoms of Multiple myelomahyperCalcemia
Renal insufficiency
Bone lytic lesions/Back Pain
Multiple myelomaPunched out lytic lesions on X ray/M spike on protein electrophoresis/Ig light chain Bence Jones proteins in urine
What is found on urine analysis of Multiple MyelomaNo proteinuria
Bence Jones proteins
M-spike IgGMultiple Myeloma
M-spike IgMWaldenstroms Macroglobulinemia
1-2% progress to multiple myelomaMGUS/Monoclonal Gammopathy of Undetermined Significance
Langerhans cell histiocytosis: Birbeck granule
Lytic bone lesions+Skin rash in ChildrenLangerhans cell histiocytosis
Myelodysplastic Syndrome: Pelger Huet anomaly
What is myelodysplastic syndromeIneffective hematopoisis, often due to environmental exposures
Which mutation is associated with Myeloproliferative disordersJAK2: RTK is constituitively active
Erythrocytosis with low EPOPolycythemia vera
Symptoms of Polycythemia veraItch after shower
Viscous blood: Erythromelalgia
Thrombocytosis with low ThrombopoietinEssential Thrombocytosis
Symptoms of Essential ThrombocytosisThrombosis and excessive bleeding
Megakaryocyte proliferationMyelofibrosis
Myelofibrosis: Teardrop cell
Myeloproliferative disorders can progress toAML
Myelodysplastic syndromes can progress toAML

Thyroid Cancer

Question Answer
MC Thyroid cancer?Papillary carcinoma
Papillary carcinoma: Orphan Annie nuclei
- Empty nuclei with central clearing

[ Papi like Daddy Warbucks ]
Papillary carcinoma: Psamomma bodies

[Mama and Papi]
RET and BRAF mutationsPapillary
What is the treatment for Papillary?Sorafenib: Kinase inhibitor
2nd MC thyroid cancer?Follicular
How does Follicular carcinoma invade?Through the thyroid capsule
How does Follicular carcinoma metastasize?Hematogenously!!
RAS and PAX8-PPAR1Follicular
Associated with MEN2A and MEN 2B RET mutationsMedullary
Medullary carcinoma is derived from which cells?Parafollicular c cells
Calcitonin: causes HypocalcemiaMedullary: proliferation of parafollicular C cells
Medullary: Sheets of cells in aMyloid stroma
What type of thyroid cancer has the worst prognosis?Undifferentiated / Anaplastic carcinoma
Rock hard thyroid in older patientsUndifferentiated / Anaplastic carcinoma
Which type of cancer is associated with Hashimoto thyroiditis?B Cell Lymphoma
What are common complications of thyroidectomy?1. Hypocalcemia: remove parathyroid glands
2. Hoarseness: damage laryngeal nerves
Activation of receptor tyrosine kinase?Papillary and Medullary