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61 terms

Translocations, Genes, HLA, Abs, Ags

chromosome translocations important gene mutations & chromosome location HLA associations with disease antibodies antigens, e.g. tumor markers
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t(9;22)
CML (Philadelphia chrom)
t(8;14)
Burkitt's lymphoma
t(14;18)
Follicular lymphoma
t(15;17)
M3 type of AML
t(11;22)
Ewing's sarcoma
t(11;14)
Mantle cell lymphoma
HLA A3
Hemochromatosis
HLA B8
Graves' disease
HLA B27
* "PAIR"
* psoriasis
* ankylosing spondylitis
* inflammatory bowel Dz
* Reiter's syndrome
HLA DR2
* multiple sclerosis
* goodpastures (anti-GBM)
* narcolepsy
* systemic lupus erythematosus
HLA DR3
* type 1 DM
* Sjögren's
* [dermatitis herpetiformis]
HLA DR4
* rheumatoid arthritis
* type 1 DM
* pemphigus vulgaris
HLA DR5
* Pernicious anemia (--> B12 defic)
* Hashimoto's thyroiditis
HLA DQ2
Celiac Dz
del(22.q11.2)
* DiGeorge Syndrome ("CATCH 22")
* Cardiac defects, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia/Hypoparathyroid
* 3rd & 4th pharyngeal pouch formation defects
trisomy 21
* Down Syndrome [MC viable trisomy (1:700)]
- quad screen: decr AFP, incr B-HCG, decr E3, incr inhibin A
- ultrasound: incr nuchal translucency
- mental retardation
- flat facies
- prominent epicanthal folds
- simian crease
- duodenal atresia
- congenital heart dz (MC: septum primum type ASD)
- incr risk of ALL & alzheimer's
trisomy 18
* Edward's Syndrome (2nd MC trisomy)
- micrognathia (small jaw)
- low-set ears
- clenched hands
- prominent occiput
- congenital heart Dz
- severe mental retardation
- rocker-bottom feet
- death by age 1
trisomy 13
* Patau syndrome (3rd MC trisomy)
- polydactyly
- cleft lip/palate
- holoprosencephaly
- micropthalmia (small eyes)
- microcephaly
- congenital heart Dz (cardiac dextroposition, septal defects)
- severe mental retardation
- rocker-bottom feet
- death by age 1
APC gene
* chrom 5 ["polyp" has 5 letters]
* Familial Adenomatous Polyposis
antimicrosomal
hashimotos thyroiditis
antithyroglobulin
hashimoto's thyroiditis
anti-DNA topoisomerase I (anti-Scl-70)
Diffuse scleroderma - more aggressive
anti-centromere antibody
CREST scleroderma - more benign
antinuclear antibodies
SLE - non-specific
sjogren's, scleroderma, polymyositis, dermatomyosystis, arthritis, juvenile arthritis, mixed connective tissue disease
anti-dsDNA, anti-smith
specific for SLE
antihistone
drug-induced lupus
anti-IgG
Rheumatoid factor
(RA)
anti-cyclic citrullinated protein
rheumatoid arthritis - more specific than RF
anti-mitochondrial
primary biliary cirrhosis
anti-gliadin, anti-endomysial, antitransglutaminase
celiac
anti-basement membrane (collagen type IV)
goodpasture's
anti-desmoglein
pemphigus vulgaris
anti-Jo-1
polymyositis, dermatomyositis
anti-SS-A (anti-Ro)
Sjogren's syndrome
ribonucleoprotein
anti-SS-B (anti-La)
sjogren's
anti-U1 RNP (ribonucleoprotein)
mixed connective tissue disease
anti-smooth muscle
autoimmune hepatitis
anti-glutamate decarboxylase
type 1 diabetes mellitus
c-ANCA - central anti-neutrophilic antibody
* Wegener's ("granulomatosis w polyangiitis")
* proteinase-3 enzyme (PR3)
p-ANCA - peripheral
* myeloperoxidase (MPO) enzyme - nonspecific
* vasculitis: Churg-Strauss, microscopic polyangiitis
* ulcerative colitis & primary sclerosing cholangitis (strong association b/w)
thyroid-stimulating immunoglobulin (TSI)
* Grave's
* Ab which activates TSH-R
urine metanephrine
most specific for pheocromocytoma
24 hrs
also catecholamine
gamma glutamyl transpeptidase
cholestatic disease of the liver
alkaline phosphatase will be high also (same as bone dysfunction)
S-100
* melanoma
* schwannoma
CA-125
malignant ovarian epithelial cells in serous, endometriod, and clear cell carcinomas of the ovary
anti-bodies U1ribo-nucleo-protein
mixed connective tissue disease
anti-saccharomyces cerevisiae (ASCA)
Crohn's disease
CEA tumor marker
colorectal cancer
pancreatic adenocarcinoma (CA-19-9 as well)
5-HIAA in urine
Serotonin syndrome
prostatic acid phosphatase
prostate carcinoma
alpha-fetoprotein
hepatocellular carcinomas, nonseminomatous germ cells (testis)
beta-hCG
hydatidiform moles
choriocarcinomas
gestational trophoblastic tumors
alkaline phosphatase
metastases to bone, obstructive biliary disease
paget's disease of bone
bombesin
neuroblastoma, lung, gastric cancer
TRAP
tartrate-resistant acid phosphatase (TRAP) is positive in hairy cell leukemia [also CD103+]
CA-19-9
pancreatic adenocarcinoma
BMPR2 Mutation
* ~ 50% of familial pulmonary artery HTN (PAH)
* ~ 10-15% of idiopathic PAH (IPAH)
* Rare in other types of PAH (eg, anorexigens)
* Modulates vascular cell growth by activating kinases"
ALK1 Mutations
* Pulmonary artery HTN (PAH) assoc/w hereditary hemorrhagic telangiectasia (ie, Osler-Weber-Rendu)"
* Shares same signaling abnormalities as BMPR2
11q23 rearrangements
common in M5 acute monocytic leukemia - infiltrates gums
t(12;21)
acute lymphoblastic leukemia
JAK2 mutation
polycythemia rubra vera, 50% of primary myelofibrosis, & 50% of essential thombocytothemia