HLA, receptors, translocations and markers

Question 1

Type 1 diabetes melitus

Answer 1

HLA-DR3 DR4/DQA1, DQB1

-Coxsackie B4, Rubella, Mumps

Question 2

Crohn’s Disease

Answer 2

HLA-DRB7 & DQ4

Question 3

Ulcerative colitis

Answer 3

HLA-DRB1

Question 4

Harshimoto Thyroiditis

Answer 4

HLA-DR3, DR5

Question 5

Rheumatoid Arthritis

Answer 5

HLA-DRB1 locus- more sever

HLA-DRB4

Question 6

Celiac

Answer 6

HLA-DQ2 and DQ1

Question 7

Chlamydia trachomatis

Answer 7

HLA-B27

Question 8

Seronegative Spondyloarthropathy

Answer 8

HLA-B27

Question 9

Invasive Ductal carcinoma, NOS

• Luminal A
• Luminal B
• Normal
• Basal Like
• Her2 +

Answer 9

• Luminal A (40-55%): ER+, Her2Neu -ve, postmenopausal, slow growing, well to mod diff, responds well to hormonal txt, decreased reponse to chemotherapy
• Luminal B (15-20%): ER+, higher grade, triple positive tumor, express Her2Neu, LN met, may respond to chemo
• Normal Breast Like 6-10%: well diff, ER+, Her2Neu -ve
• Basal like 13-25% Triple negative: BRCA1 (+), younger females, medullary Ca, metaplastic Ca, spindle cell Ca, high grade, agressuve, mets to brain, 15-20% complete response to chemo, cure possib;e in chemo responsive group.
• Her2 + (7-12%): Paget’s disease of the breast
  Ki67 positive
  poorly differentiated, high metastasis to brain (hercpetin can not cross BBB)

Question 10

Multiple ssclerosis

Answer 10

HLA DR2, DR15

Question 11

BRCA 1 gene
BRCA 2 gene
Her2/Neu oncogene

Answer 11

BRCA1-chrom 17q21, 1:800 females–>breast and ovarian cancer

BRCA2-Chrom 13q12 less common, early onset–>brest canccer in men

Her2/Neu oncogene chrom 17q21
-response to herceotin (humanized monoclonal antibody directed against cells that express Her2/neu

Question 12

Ring enhancing brain lesions

Answer 12

Brain abscess

Lymphoma

Question 13

spindle shaped concentrically arranged whorled pattern

Answer 13

leiomyoma

Meningioma

Question 14

Meningioma

Answer 14

Neurofibromatosis II (NF2)

• vestibuloshwanomma (acoustic neuroma CNVIII) + meningioma
• Papillary type most common (has psammoma bodies)

Question 15

extrinsic brain tumor

Answer 15

Pituitary adenoma
schwanommas
meningiomas

Question 16

Brain tumors

-secondary (metastasis)

Answer 16

1. Lung
2. breast
3. Melanoma

rarely see prostate go to brain, stay in bone

Lymphoma in immunocompromised

Question 17

Neuroblastoma

Answer 17

ALK gene mutation famillial
“Blue berry muffin baby”-when it disseminates
40% in adrenal medulla
remaining arise anywhere along the sympathetic chain

Question 18

Granulosa theca cells

Answer 18

Inhibin (inhibits FSH)

histo:
call-exner bodies: cuboidal granulosa cells rapped around a central lumen

Question 19

IgM + c3

Answer 19

FSGS

Question 20

IgG + C3

Answer 20

• Membranous glomerulonephropathy
• Post streptococcoglomerulonephritis (antistreptolysin O Ab or DNAase B)
• RPGN: type I (Good pastures/anti GBM) linear deposit Type II HSN

Question 21

IgA + C3

Answer 21

Mesangioproliferative glomerulonephritis (IgA nephropathy/bergers disease)