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Cellular Pathology > Diseases and conditions > Flashcards

Diseases and conditions Flashcards

1
Q

Pemphigus

A

Autoantibodies against desmoglein 1 - predominates above the stratum sinosum of the epidermis

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2
Q

Pemphigoid

A

Larger lesions than pemphigus, all the epidermis is detached from the basal lamina, autoantibodies against bullous pemphigoid antigen BPAG1/2, a member of the plakin family connecting the basal lamina to the intermediate filaments

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3
Q

Atrophy - physiological and pathological

A

Physiological - Of thymus with age, of ovaries post-menopause, immobilisation of broken limbs
Pathological - Denervation/devascularisation

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4
Q

Hypertrophy - physiological and pathological

A

Physiological - Of uterus in pregnancy, Training
Pathological - Cardiomyocyte hypertrophy

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5
Q

Hyperplasia - physiological and pathological

A

Physiological - Adrenal cortex during stress, breasts in puberty and pregnancy
Pathological - Prostate, adrenal cortex due to ACTH insufficiency(?)

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6
Q

Metaplasia - physiological and pathological

A

Basal cells form a different type of epithelium:
Physiological - To establish simple columnar epithelium inside cervix, stratified squamous epithelium outside cervix, OR Barret’s oesophagus (stratified squamous to glandular)
Pathological - Bronchal metaplasia from inhaled particles, pseudostratified columnar to stratified squamous

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7
Q

Epithelial-mesenchymal transition - physiological and pathological

A

Physiological - Neural tube formation, wound healing
Pathological - Cancer metastasis

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8
Q

H. Pylori infection

A

Gram-negative bacterial infection of gastric atrium, can lead to gastric cancer/lymphoma, accounts for 90% of gastriris patients, breath test for diagnosis, antibiotics can treat lymphoma

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9
Q

Coeliac disease

A

Immune hypersensitivity to gluten - Inflammation damages villi, causes swelling and flattening, absorption becomes inefficient

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10
Q

Diverticular disease

A

Lack of fibre causes outward bulges or ‘diverticula’ in intestinal wall (diverticulosis), which can become inflamed, e.g. if impacted with faeces (diverticulitis)

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11
Q

Diverticulosis/itis

A

Capillaries on the exterior intestinal wall, which supply blood to colon epithelia (through diffusion/BM) cross through the muscle wall through small pores to reside under the intestinal epithelium, large pressures in the colon (obstruction/constipation) can cause the epithelium to bulge out through these pores

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12
Q

IBD - Ulcerative colitis

A

Colon only, autoimmune continous lesion (inflammation) from anus proximally onwards, limited to mucosa - can cause absence of Goblet cells, crypt distortion and abscesses
Symptoms - abdominal pain and bloody diarrhoea
Treat with steroids or foecal transplant

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13
Q

IBD - Crohn’s disease

A

Anywhere in GI tract, typically SI and sometimes LI
Immune, not strictly autoimmune - can be triggered
Inflammation occurs in ‘skip lesions’ and across the whole intestinal wall (transmural)
Diarrhoea not usually bloody
Biopsy - Granulomas, submucosal fibrosis, neuromuscular submucosal hyperplasia
Treat - steroids, lifestyle changes, palliative surgery, antibiotics for infection

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14
Q

Breast cancer - Molecular classification and typing

A

75% of all invasive breast cancers are ductal NST (No Special Type)

Luminal A: ER+ PR+ HER2-
Luminal B: ER+ PR+ HER2- Ki67+
Non-luminal: HER2-enriched and basal-like

80% of basal-like are also TN.

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15
Q

Lung cancer - Genetic factors and testing

A

EGFR (FISH gold standard, can use IHC)
ALK1 (IHC) - RTK, can fuse with TFG (like in Philadelphia Chr.); or inversion inv (2) (p21p23) results in ALK-EML4 gene fusion (NSCLC)
BMP9 binds ALK-1 and Endoglin -> Smad1/5/8 -> ID1/3/… transcription (inhibitor of DNA binding, promotes homologous recombination for DNA repair)
PDL1 (IHC) - Programmed Death Ligand 1 - Binds PD-1 to induce apoptosis in immune cells such as T cells - Mutations contribute to immune evasion in cancer
ROS1 (IHC & FISH)
RTK - can fuse with EZR (Ezrin, regulator of actin cytoskeleton)
Targets PI3K/AKT/mTOR, RAS/RAF/MEK/ERK, JAK/STAT

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16
Q

Colorectal cancer - Molecular patterns

A

CIN (Chromosomal INstability) - Loss of entire chromosomes or large parts of them -> APC underexpression/mutation (adenoma induction) -> KRAS upreg. (adenoma growth), TP53 downreg (adenoma to carcinoma) - Associated with chromosomal segregation genes BUB and MAD, (and DNA repair genes
ATR/ATM, telomeres, 18q LOH?)
CIMP (CpG Island Methylator Phenotype) - Methylated promoters include TIMP3 (MMP inhibitor), MINT1/31 (MINT31 interacts with CDKN1A for cell cycle arrest - CDK inhibition), RUNX3 (TF for EGFR and MMP9), ID4 — CDKN2A and MLH1
MSI (Microsatellite Instability) - Affects genes which are known to dimerise to excise and repair DNA mismatches - MSH2+MSH6, MLH1+PMS2 - Can be inherited (Lynch syndrome/HNPCC - germline mutations in these genes, especially MSH2/6) or sporadic CRC (CIMP-induced MLH1 promoter methylation -> Loss of MLH1 induces MSI in the other MMR genes as well)

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17
Q

Colorectal cancer - Common checkpoint interactions for immunotherapy

A

CD80/CTLA4 and PD-L1/PD1

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18
Q

Symptoms of liver disease

A

Jaundice, malaise, change in stool color, pruritus, advanced - oedema, ascites, bleeding, coma
ALSO:
Gynecomastia - Breast tissue growth in men due to hyperoestrogenism, liver makes some oestrogens and metabolises/clears oestrogen
Bruising/bleeding - clotting factors

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19
Q

Acute liver injury

A

HepA/B/C infection
Alcohol/drugs
Bile duct obstruction
Gallstones -> Biliary colic, obstructive jaundice, pacreatitis (at ampulla), cholangitis
Cholangitis - Inflammatory infiltrate around the portal tract (lymphocytes + some eosinophils) + concentric lamellated periductal fibrosis (onionskin-like fibrosis)

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20
Q

Chronic liver injury

A

HepB/C - Chronic viral hepatitis
Alcoholic liver disease
Autoimmune
Primary biliary cirrhosis - More common in women, destruction of bile ducts due to anti-mitochondrial antibody + Progressive jaundice
Autoimmune hepatitis - More common in women, destruction of liver cells due to anti-nuclear and anti-smooth muscle antibodies
Haemochromatosis, NASH, Wilson’s, a-1-antitrypsin deficiency
Hepatic cirrhosis - Fibrosis, replacement of normal liver tissue with parenchymal nodules -> Portal hypertension, liver failure, hepatocellular carcinoma

21
Q

HepB/C

A

‘Ground glass’ appearance, more homogenous and eosinophilic cytoplasm in infected hepatocytes compared to normal ones

22
Q

Alcoholic liver disease - Histopathological features

A

Fat infiltrate, Mallory’s hyalin (highly eosinophilic, pink - ubiquitinated intermediate keratin filaments), and some immune infiltrate

23
Q

Benign and malignant ‘-omas’

A

Benign - chondroma, lipoma, adenoma, most meningiomas, hemangioma (blood vessels in the skin), papilloma
Malignant - Lymphoma, melanoma, sarcoma, myeloma - especially MM - some can be benign, some gliomas, neuroblastoma, retinoblastoma, carcinoma
Also benign names can be made malignant, e.g. chondrosarcoma, liposarcoma

24
Q

Carcinoma, with example structures

A

Malignant epithelial cell tumour from any of the layers - ectodermal (epidermis), mesodermal (kidney tubules), endodermal (cells lining GI tract)

25
Q

Eponymous tumours

A

Wilms tumour (nephroblastoma), Hodgkin’s lymphoma, Ewings sarcoma, Kaposi sarcoma (autoeponymous if the person naming it had the disease)

26
Q

Germ cell tumour types

A

Teratoma - More embryonic cells
OR
Dermoid cysts - More mature, essentially adult, cells - More cystic

Seminoma
Non-seminomatous germ cell tumours (NSGCT)
Embryonal cell carcinoma
Choriocarcinoma
Yolk sac tumour
Teratoma
Mixed germ cell tumour

27
Q

SRBCTs - Types

A

Usually pediatric malignant neoplasms:
Desmoplastic small-round-cell tumour
Ewing sarcoma/pPNET
Rhabdomyosarcoma
Synovial sarcoma
Carcinoids
Mesothelioma
Medullo-/retino-/neuroblastoma

28
Q

SRBCT - Translocations

A

EWSR1 gene translocations -> Ewing’s sarcoma, clear cell sarcoma, desmoplastic small round cell tumor and myxoid liposarcoma.

-> Ewing sarcoma family - EWSR1-FLI1- >90% of cases - t(11;22)(q24;q12) [OR] EWSR1 to ERG,ETV1,E1AFandFEV
-> Clear cell sarcoma, DSRCT and myxoid liposarcoma - EWS fused toATF1,WT1andCHOP respectively
-> CIC-DUX4 fusion is the most common in EWSR1/FUS-negative undifferentiated SRCTs
-> RMS - PAX3/7-FKHR (FKHR == FOXO1)
-> Synovial sarcoma - SYT-SSX
-> Mesenchymal chondrosarcoma (axial skeleton, craniofacial bones) - HEY1 (exon4)-NCOA2 (exon 13) at mRNA level

29
Q

EWS - “Ewing-like sarcoma”

A

EWS can be confused for other neoplasms with similar immunotypic characteristics, but these lack the pathognomic mark of EWSR1 or FUS fusion with a ETS-family TF gene, for example - cancers involving EWSR1-NFATc2 or FUS-NFATc2 fusion. NFATc2 is not an ETS family member.

30
Q

Philadelphia chromosome

A

In CML

t(9;22)(q34;q11) - BCR (B cell receptor)-ABL1(Abelson murine leukemia virus 1 - Tyr kinase) -> Constitutively active ABL kinase activates growth proteins

31
Q

Lung cancer - Drugs against each mutation

A

EGFR - Erlotinib, Gefitinib
ALK - Crizotinib
PDL1 - Pembrolizumab
ROS1 - Crizotinib, Entrectinib

32
Q

SC lung cancer - Other treatments

A

Most chemotherapies and VEGF/EGFR/c-Kit/c-Src inhibitors so far have been found ineffective
Antibody-drug conjugates are promising - DLL3 delta-like protein fused to pyrrolobenzodiazepine dimer toxin
Immune checkpoint inhibitors
anti-CTLA4: CTLA4 competes with CD28 to bind B7 ligands on activated APCs (co-stimulation), CTLA4 binding inhibits T cell activation -> Ipsilimumab (Yervoy) - Anti-CTLA4 to enhance T cell activity in cancer
PD-1: On surface of T, B, NK cells, interacts with PDL-1 ligands on normal host cells -> T cell apoptosis -> Prevents autoimmunity -> Also enhances immune escape in cancer cells -> Nivolumab (Opdivo), Pembrolizumab

33
Q

Lung cancer - KRAS/TP53 pathways

A

KRAS-GDP -> KRAS-GTP
RAF/MEK/ERK, RAL/NFkB, PI3K/AKT/mTOR
mutant KRAS -> Hyperproliferative stress -> E2F1 -> ARF
Inhibits mdm2, which inhibits TP53 -> TP53 up
TP53 -> 14-3-3-s, CDKN1A, miR-34a for growth arrest
-> Bax, Fas, ig3 for apoptosis
-> Xpc, Ercc5 for DNA repair
-> CDKN1A, Pai1, Pml for Senescence

34
Q

Nicotine and nitrosamines in smoking - Effects, gene alterations

A

Nicotine and tobacco-specific nitrosamines can directly bind and activate Akt and PKA without needing enzymatic activation
Common variants in CHRNA5/3/4 NAChR subunit gene cluster on Chr 15q25 -> More addiction, increased nicotine and NNK carcinogen uptake -> LC risk
CYP2A6 polymorphisms -> Gene for nicotine metabolism catalysis -> significant effect on smoking behaviour and LC risk

35
Q

Tobacco smoke carcinogens

A

Polycyclic aromatic hydrocarbons (PAHs) - All genotoxic carcinogens, enzymatically activated to DNA-reactive intermediates like bay region diol epoxides
NNK - DNA-binding diazohydroxides -> KRAS mutagen
Volatiles - e.g. 1,3-butadiene and ethylene oxide
Cadmium and Po210

36
Q

Breast cancer - DCIS, LCIS and Invasive BC differences (including histopathology)

A

DCIS - Good prognosis usually, lumpectomies tend to be curative, low recurrence
LCIS - Worse prognosis, likely to recur and become bilateral (if unilateral)
Invasive BC - Invasive cells lack E-cadherin for clumping. invade in ‘Indian files’ (almost single-file cells)

37
Q

Breast cancer - Main risk factors

A

Early menstruation, late menopause -> Longer exposure to oestrogen, especially if nulliparous throughout this
Obesity -> More peripheral tissue, and so aromatase conversion of androgens to oestrogen (+ diabetes lowers hepatic SHBG production and secretion)

38
Q

Genes involved in Barret’s oesophagus metaplasia

A

Irritation, especially from bile acids, triggers inflammation in Barret’s. Activation of immune cells like T cells in repeated or chronic inflammation can lead to genetic changes like:

Upreg. of CDX2 - Intestinal differentiation factor
MUC2 - Goblet cell-related gene
And alterations in p16 - 90% of cases (CDKN2A, cell cycle checkpt.)

These changes occurring in stem cells - embryonic-derived or MSC-like in lamina propria of oesophagus - triggers Barret’s metaplasia: STRAT SQUAM -> COLUMNAR (GLANDULAR-LIKE)

39
Q

Gastritis findings and classification

A

Red mucosa, coarser and flatter, inflammatory infiltrate
Sydney classification -
Acute gastritis - Mucosal injury from alcohol/NSAIDs, corrosives, infection (S. aureus), stress (ischemia) - Acute inflammation with or without ulcers
Chronic - Inflammation of lamina propria and mucosal atrophy, often leading to epithelial metaplasia; H. pylori or autoimmune causes (anti-Parietal cells)

40
Q

Heartburn (pyrosis) and dyspepsia

A

Pyrosis - Gastric reflux, alcohol, smoking, large meals, posture… Or oesophagitis?
Dyspepsia/indigestion - Epigastric pain , can be from gastric/duodenal ulcer, usually with nausea

41
Q

Chronic lower GI pain and ischemic bowel

A

Obstruction (tumour), IBD, ischemic bowel (recurrent acute)
Ischemic bowel
Clots in superior (SMA, lower duodenum to 2/3 of trans. colon) or inferior mesenteric artery (IMA, distal 1/3 of trans. colon to rectum)
>75% reduction in flow for 12+ hrs, or collateral circulation will compensate
MI, arrythmia, aneurysm, atheroma, injury-induced thrombosis, coagulopathy

42
Q

GI bleeding causes

A

Inflammation, diverticulitis/osis, polyps, cancer, NSAID overuse(?)

43
Q

Oesophageal cancer

A

Insidious growth, usually well-established at diagnosis; can spread through oesophageal wall
Spread through adventitial tissue indicates poor survival (>20%, in 5 yrs)
Endoscopic mucosal resection if under a few cm in size, otherwise radio/resection

44
Q

Gastric cancer

A

Most common cancer of upper GI
DIET: Nitrates (water, food - from fertilizers) -> Bacterial metabolism -> Nitrites -> Nitrosation of dietary amines -> Carcinogenic N-nitrosamines
Also - smoking, alcohol, asbestos, blood type A

45
Q

Gastric ulcers

A

Occur when acid erodes the mucosa. Can present with epigastric pain, dyspepsia, nausea, hematemesis OR be asymptomatic. About 10% are malignant, or 40% if over 2cm in diameter.

H. pylori can cause ulcers by damaging the mucus lining of the stomach, by (digestion? or) inflammation, then allowing acid erosion of the mucosa.

46
Q

MALToma

A

Mucosa-associated lymphoid tissue lymphoma
In H. pylori infection, chemokines recruit T cells and immune cells for inflammation (ROS) - this can also lead to epigenetic (esp. miRNA) alterations. The CagA antigen of HP can also enter B cells, wherein it upregulates p53, Bcl-2, Bcl-XL and inhibits apoptosis.

47
Q

CRC risk factors

A

Red, processed and fried meats; low vit. D; obesity; T2D; IBD; history of GI surgery or family history of CRC or Lynch syndrome

48
Q

CRC - KRAS mutations in EGFR treatment

A

KRAS mutation can make EGFR treatments futile, as KRAS would be active independent of upstream EGFR activation

Cellular Pathology (4 decks)

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