Lecture 2 - Lung Cancer

Epidemology Overview

  • Lung cancer is the leading cause of cancer-related deaths worldwide

  • Eastern Asia & Eastern Europe > higher incidence & higher mortality rates from lung cancer

Mortality and Lifestyle Factors

  • Regions with higher mortality > higher smoking rate, limited access to early detection or effective treatment

Epidemeology Overview — on Australia

  • A need for early detection and intervention to improve survival rates

Rankings in Cancer Incidence

  • Lung cancer ranks fourth among cancers in terms of cases but maintains the highest mortality rate.

Lung Anatomy and Cancer Development

  • Lung Structure Overview:

    • Sponge-like organ necessary for gas exchange.

    • Right lung has three lobes; left lung has two due to the heart's positioning > assymetrical > allows the heart to fit

    • Left

  • Airway Pathway:

  • Gas exchange:

    • Air enters through the trachea, travels to bronchi, and reaches alveoli

    • When cancer cells start growing > mess with this delicate system of gas exchange

    • Cancer begins in the airway — where the air flows through trachea, bronchi, brinchioles & alveoli > this is why it’s linked with smoking

    • Lung cancer disrupts the gas exchange mechanism, beginning often in the airway

    • Lung cancer — irritates & damages lung tissue > increases risk of mutations in the cells, cell lining & airway of lung

    • Cancer cell may first grow in bronchi > then spread & block the airway

    • Pumera > causes pain & makes it a lot harder to breathe

  • Lung protection & support

    • Pleura — double layered membrane that surrounds the lung > allows it to expand & contract without any friction

    • Diaphragm — big muscle underneath the lung > moves down when inhaling

    • Mediastinum — where the heart & vital organs are sitting > when the cancer spreads to lungs where the lymph nodes are > this is where the lung cancer cells will be growing > do not get diagnosed in early stage > when they get to this area > already late stage > it is only when it spreads that it will get picked up

  • Lung cancer — aggressive compared to other cancer types > ranked as #1 in mortality rate > infiltrates a lot of surrounding tissue & affect a lot of important structures — e.g. diaphragm & blood vessels

  • As the cancer continues to grow > block the airway > make it a lot harder to breathe > fluid buildup > affect the further lung function

Hallmarks of Lung Cancer

  • Genetic mutations influenced by carcinogen interactions lead to uncontrolled cell growth.

    • Formation of DNA adducts from environmental exposures (e.g., smoking).

    • Key Hallmarks:

    1. Sustaining proliferation signaling.

    2. Evasion of growth suppressors.

    3. Genomic instability.

    4. Resistance to cell death.

  • Emphasis on the need for understanding genetic factors in preventing and treating lung cancer.

  • Mutation & genomic alterations

    • When carcinogens do the damage > cause the mutation in key genes that are essential for controlling cell growth

      • Oncogenes — genes that promote growth

      • Tumour suppressor genes — genes that normally stop the cells from growing

Lung carcinogenesis

  • 3 hallmarks that are important:

    1. Sustaining proliferation signalling

    2. Evading growth suppressor

    3. Genomic instability

      • Will look at how medications will be targeting them in order to stop the growth of cancer

Risk Factors and Screening Procedures

  • Risk Factors:

    • Smoking, air pollution, familial history, and occupational exposures.

History of

  • sputum cytology — mucus under microscope

    • However, chest X-rays didn’t help reduce lung cancer deaths > only can see the tumour when in advanced stage > can’t see it in early stage

  • Screening Tools:

    • Historically involved chest X-rays; current recommendation favors low-dose computed tomography (CT).

    • National lung cancer screening programs implemented, emphasizing the importance of early detection.

    • Challenges:

    • False positives and potential for overdiagnosis.

    • Psychological burdens on patients.

Diagnostic Strategies

  • Common Symptoms:

    • Persistent cough, chest pain, weight loss, hemoptysis (coughing blood).

  • Diagnostic Procedures:

    • Chest X-rays, CT scans, PET scans for detail.

    • Various biopsy methods for confirming diagnosis.

Molecular Testing

  • Biomarkers are location-specific — matches with both type of the cancer & genetic mutation

  • Distribution of lung epithelial cells across the proximal & distal parts of the lung > tells how the cancer develops > the genetic material changes depending on where the cancer starts

Molecular Testing — PDL-1 Testing [NSCLC]

  • PDL-1 — sits on cancer cells > helps cancer cells to hide

  • PDL-1 > binds to PD-1 receptor on T cells > tells T cells to not attack the tumour growth > allows the cancer cell to keep growing without any checkpoint to stop it

  • higher PDL-1 expression > checkpoint inhibitors — e.g. nivolipomab & pembolucimab — are very well placed to counteract it

  • Immunotherapy — works by taking the brake off the immune system & tell the normal healthy T cells to destroy the tumour

  • Immunotherapy > gives the healthy T cells extra boost so that they know what to do

Molecular Testing — Driver Mutations

  • Squamous cell carcinoma — common in smokers, lives in central airway > PDL-1 testing is extremely important when it comes to it

  • Non-squamous histology — includes adenocarcinaoma& required a genetic teting to identify that

    • EGFR, ALK, KRAS & ROS live there

      • Look to where these mutations are > to have targeted therapy

Lung Cancer — Types

  • 2 types of lung cancer:

    • Small cell — 10-15% of lung cancer cases

      • More aggressive than non-small cell > Moves very quickly to different parts of body > Metastisis in the brain

      • Strong link to smoking

      • Survival rate — low

    • Non-small cell — accounts for 80-85% of lung cancer

      • Adenocarcinoma — most common lung cancer

        • Happens to non-smokers, women, asian & young people

        • Starts from outer part of lung & then continues to move into the tiny airsacs which are responsible for gas exchange

        • Mutations involved — EGFR & KRAS

        • Normally leads to a positive outcome > have a medication that targets EGFR & KRAS inhibitors

        • Has better prognosis compared to the other types of lung cancer > can be detected earlier

      • Squamous cell carcinoma

        • Linked to smoking

        • Lives around central bronchi of lungs close to trachea

        • Highly aggressive > grow & spread extremely fast

        • Lead to fast blockage of airway > symptoms of shortness of breath, constant coughing

        • Therapies — radiotherapy & chemotherapy

      • Large cell carcinoma — undifferentiated

        • Rare

        • Highly aggressive form of lung cancer > quickly moves to different places in the organ > metastasis a lot faster & earlier >

        • Happen anywhere in the lung

        • Undifferentiated > cancer cells can go into the lung cells, but because they are undifferentiated > body will not have the system in place to kick it out

Lung Cancer — SCLC Staging

  • 2 stages

    • Limited stage — more confined to one side of the chest

    • Extensive stage — already spread beyond the lung

Goals of Therapy

  • Treatment selection criteria:

    • Patient preference — willingness to undergo specific treatment

    • Tumour characteristics — type, size & stage of lung cancer

      • Small tumour > suitable for surgical resection

      • Larger tumour > chemotherapy, radiotherapy

      • Stage 1 tumours — surgically removed

      • Stage 4 tumours — require a combination of chemotherapy, immunotherapy or targeted therapy

    • Mutation status — when it comes to molecular testing for genetic mutations — e.g. EGFR, ALK, KRAS & RAS1 > crucial in determining whether the targeted therapy or immunotherapy will be effective > allows personalised treatment that targets the specific genetic alteration & driving the tumour

      • EGFR mutations — can be targeted with EGFR inhibitors

Treatment Options

  • Surgery — recommended for early-stage lung cancer > when the tumour is localised & has not spread to other parts of body

    • In stage 1 & 2 of lung cancer > surgical recession is one of the primary treatment options, especially when the cancer is confined one lung & can be surgically removed

    • One of the common surgery procedures — labectomy > removal of lobe of lung > or wedge resection — removal of some isolated portion of the lung

    • If surgery is not feasible because they are of advanced stage, or if cancer has spread to distant organs or vital structure > systemic therapies — e.g. chemotherapy, radiotherapy, immunotherapy may be more appropriate

  • Radiotherapy — used in situations where surgery cannot be used for tumour > to shrink down tumour or control tumour growth

    • Alleviates symptoms in advanced stages — e.g. pain or difficulty breathing > tumours can cause obstruction of airway

    • May sometimes be done before surgery > to reduce the risk of recurrence

  • Chemotherapy — involves the use of drugs to destroy cancer cells

    • Used when surgery is not an option, or when cancer has spread beyond the lungs

    • Can effectively target any rapidly dividing cancer cell, but it also affects the healthyc cells > lead to common side effects — e.g. fatigue, nausea, hair loss

  • Immunotherapy — key treatment for advanced stage lung cancer, especially though PD1/PDL-1 inhibitors

    • Useful in advanced non-small cell lung cancer

    • Its use is determined by the tumour PDL-1 expression levels or tumour mutational burden

    • These drugs work by blocking PD1/PDL-1 pathway > cancer cells use to evade the immune system

      • By enhancing the immune response > will help the immune system target & destroy the cancer cell

  • Molecular targeted therapies — designed to target specific genetic mutation or molecular pathways that drive tumour growth in non-small cell lung cancer > more personalised approach

    • EGFR inhibitior example — oscimitib > used for EGFR mutation

  • Supportive care — focuses on managing the symptoms & improving quality of life

  • Palliative care — aims at comfort, knowing the cancer won’t be curable > aim is to manage the symptoms & provide psychosocial support

Overview

  • Targeted therapy > allows for personalised therapy

  • EGFR mutation positive — mutations that are effective in inital stage before resistance develops

  • BRAF V600E positive — rare in lung cancer

    • Dabrafenib + Trametinib combination therapy — block MCP pathway > abnormally activated in tumours for BRAF V600E mutations

1st Line Therapy

  • Immunotherapy > tells the T cells to attack the tumour cells

  • 1st line treatment > want some of the mutations to be present

  • Patients that should be considered — those that have poor performance starters > already have extensive metastisis in either side of the organ, have significant comorbidities, older age > lead to prognosis to be worse

  • …. potential rechallenge upon progression may occur if the disease progresses after initial treatment, where the patient may benefit from resuming treatment after a period of remission

  • Atypical responses:

    • Pseudoprogression — where tumour will initially appear to grow, will be detected by imaging, but later will shrink down > common for patients using immunotherapy, especially for PD-1 & PDL-1 inhibitors

      • Different to actual tumour growth > have time limit to growth before starting to shrink

    • Hyperprogression — where the disease will worsen very rapidly than expected after the start of treatment

      • Related to genetic mutations or immune system responding > require a treatment plan to be adjusted

  • Immunotherapy — effective in patients with high PDL-1 expression > one of the central treatment strategy for advanced or metastatic non-small cell lung cancer

  • Whether a patient needs monotherapy or combination therapy depends on the presentation or expression of some of the targeted treatment

    • If patient has high PDL-1 expression > monotherapy with PD1/PDL-1 inhibitors is recommended

      • Effective in controlling any tumour growth while having fewer side effects compared to chemotherapy

    • For combination therapies for patients with lwoer PDL-1 expression > combination of PDL-1 inhibitors with chemotherapy is effective

      • Works by leveraging the immune system’s ability to target cancer cells while using chemotherapy to shrink tumours & prevent further spread

        • Combiantion therapy improves response rates & survival in patients who might not respond well to monotherapy alone

Immunotherapy

  • Checkpoint inhibitors — one of the class of immunotherapy > used for non-small cell lung cancer

  • PD1/PDL-1 inhibitors > evade immune detection

    • By blocking this interaction > checkpoint inhnibitors will allow the T cells to recognise & attack cancer cell > enhance the body’s natural ability to fight the tumour

  • PDL-1 inhibitors > block PD1 receptor on T cells > stopping it from interacting with PDL-1 — ligand on tumour cell > this will reactivate the T cells > allowing them to recognise & attack cancer cells that will otherwise evade the detection

    • These inhibitors have become standard therapy for advanced non-small cell lung cancer, espeically in patients with high PDL-1 expression

    • Work by preventing PDL-1 ligand on tumour cells fromm binding to PD1 receptor on T cells

      • By blocking this interaction, PDL-1 inhibitors will enable T cells to stay active & continue targeting & destroying cancer cells

    • Used in patients with high PDL-1 expression

    • Can be used alone or in combination with chemotherapy

  • CDLA4 inhibitors — normally enhance T cell activation at the earliest stage in the immune response

    • Example — Epilipumab

      • → Stimulates T cells to become more effective at targeting the cancer cell

      • Often used in combination with PD1 inhibitors, to boost the immune system & increase the chance of durable response

Immunotherapy for early stages NSCLC

  • Early stage > often do surgery first & then immunotherpay, or opposite

  • Immunotherapy is done as an additional treatment approach to either neoadjuvant (before surgery) or adjuvant (after surgery)

  • This is normally in combiantion with chemotherapy

  • Neoadjuvant immunotherapy — involves the administration of PD1/PDL-1 inhibitors — e.g. pembrolizumab or nivolumab — before surgery > to shrink down the tumour & making it more amenable to surgical resection

    • By reducing the tumour side before surgery > can potentially improve surgical outcomes & leadd to better long term survival

  • Adjuvant immunotherapy — after surgery

    • PD1/PDL-1 inhibitors can be used as adjuvant therapy > to prevent recurrence & can eradicate micrometastasis that may have spread during the early stages of cancer

      • This is crucial for reducing the risk of relapse, especially when it comes to high risk patients who may have more extensive disease or higher likelihood of cancer coming back

  • Benefit of combining immunotherapy with chemotherapy, either before or after surgery — will reduce the tumour size & make it easier to resect & prevent any recurrence of cancer after surgery by targeting any microscopic cancer cells that may still be remaining in body

Immunotherapy for late stages NSCLC

  • Late stage > won’t be able to do the surgery anymore > have already spread to other organs

  • Chemotherapy — first-line of treatment for stage 3 or 4 lung cancer

  • Mostly uses combination — chemotherapy with radiotherapy

    • Goal to shrink down tumour > to decrease symptoms & improve overall survival

  • PDL-1 inhibitors > will normally be used as adjuvant therapy > used in combination with chemotherapy for any lung cancer cases that can’t be performed by surgery

    • Examples — pembuluzimab, tenluzumab

      • Help to boost the immune system > enabling it to recognise & attack the cancer cells more effectively

    • Their use has shown to improve progression-free survival & overall survival, especially in patients who may not respond to conventional chemoradiotherapy alone

  • Benefit of combination — will be able to control the disease, reduce tumour size & improve survival outcome

  • Advanced stage 4 — has already spread to any distant organs — e.g. liver, bones & brain

    • → Incurble

    • Treatment options will be focusing on extending survival & improving quality of life

    • Pembulizumab, nivolupimab & etisoluzumab > used as either monotherapy or in combiantion with chemotherapy > to target cancer cells & enahance immune response

  • In cases where the patients have a higher PDL-1 expression > then the monotherapy with PD1/PDL-1 inhibitors is effective > better response rate & survival

  • For combination therapy for patients with a lower PDL-1 expression, or non-responder s to monotherapy > combination therapy with chemotherapy or CTL4 inhibitors — e.g. ipilupumab — may be used > to boost immune activation & improve treatment efficacy

    • By combining chemotherapy with immunotherapy > enhance immubne system’s ability to attack the cancer while also directly shrinking the tumours through chemotherapy

    • Important for treatment of metastatic stage of non-small lung cancer & helping with quality of life

Personalised Therapy Based on Mutation Status

New Standards

  • Depending on the stage of lung cancer > use monotherapy or combination

  • Combination therapy — either immunotherapy + standard systemic chemotherapy; or 2 immunotherapies

  • Pembrolizumab + Platinum-based chemotherapy > used when the patient needs the checkpoint inhibitors to boost the immune system & allows to have a better target at attacking the cancer cells

  • The choice of combination therapy depends on the patient’s tumour type, PDL-1 expression & tumur mutation

Immunotherapy — Personalised Therapy: Side Effects

  • Study the whole website on eviQ

  • Immunotherapy, especially for checkpoint inhibitors, carry a risk by triggering immune related adverse events

    • These side effects happen becuase the immune system is being reactivated & starts attacking the normal healthy tissue in the body > leading to inflammation & damage

  • Pneumonitis — inflammation of the lungs — one of the most common adverse effects for patients with immunotherapy > symptoms are shortness of breath, cough & fever

  • Hypothyroidism — underactive thyroid > occurs when the immune system attacks the thyroid gland > leading to fatigue, weight gain & cold intolerance

  • Colitis — inflammation of colon > can cause diarrhoea, abnormal pain & intestinal perforation

  • Hepatitis — inflammation of liver > can cause elevated liver enzymes, jaundice & fatigue

  • Dermatitis — inflammation of skin > rash, itching or more severe skin reaction

  • Management — Cortcicosteroids & immunosuppressants

    • By suppressing the overactive immune system

      • Corticosteroids — 1st line treatment to reduce inflammation & control symptoms

  • The specific type of toxicity determines the choice & dose of immunosuppressive therapy

    • E.g. colitis may be managed with high dose steroids, while hepatitis may require corticosteroids with additional liver support therapies

  • Pseudoprogression — refers to tumurs may appear to grow on imaging studies, before they shrink as the immune system mounts an attack on the tumour

Molecular Targeted Therapy — EGFR Tyrosine Kinase Inhibitors (TKIs)

  • T79M mutation — common mutation that happens in EGFR domain, especially in patients who develop resistance after initial treatment with 1st & 2nd generation of EGFR

    • This mutation will alter ATP binding pocket of EGFR receptor & preventing EGFR inhibitors from effectively binding to receptor & inhibiting its activity

      • Because of that, a 3rd generation EGFR TK1 has been developed — oscimiumneb

        • Specifically designed to target T97M > providing solution for patients with resistant EGFR mutations

          • However, when it comes to 3rd generation resistance > it is called C797S mutation > developed during the treatment of osciminub

            • This mutation alters ATP binding site > leading to resistance to osciminub & blocking its ability to bind to EGFR receptor > leadint to a continuation of tumour growth despite therapy being used

  • EGFR amplification — occurs when cancer cells increase in number of copies of EGFR gene

    • This can lead to overexpression of EGFR protein > make EGFR TK1 less effective

    • This amplification of EGFR gene will increase the numebr of recpetors on cancer cell surface

      • It will also lead TKI drugs to compete with a higher number of receptors

        • → Diminish the effectiveness of blocking the tumour growth

  • Upregulation of other EGFR family members > can restimulate tumour growth & overcome block induced by EGFR inhibitors

  • EGFR pathway bypass

    • Activation of other ….

      • These pathways are involved in promoting cell survival & growth > their activation allows cancer cells to continue to divide despite of EGFR blockade

      • Cells ….

      • Cross mutations are known to bypass EGFR signalling pathway > rendering EGFR targeted therapy ineffective

  • Histological tranformation

    • Some ….

    • These …..

    • This transformation may occur because of genertic alteration or epigenetic changes that reprogram the cancer cells into a more aggressive phenotype

Molecular Targetted Therapy — EGFR Tyrosine Kinase Inhibitors (TKIs)

  • EGFR mutation — major driver of non-small cell lung cancer

    • → Leading to activation of ERK MAPK pathway …..

      • → These mutations can cause EGFR receptor to become more constantly active & driving the tumour growth & metastasis

  • 1st Gen — used if there is resistance developed

Molecular Targetted Therapy — EGFR Tyrosine Kinase Inhibitors (TKIs)

  • 1st Gen EGFR — resistance develops quickly — within 9-14 months

  • 2nd Gen EGFR — resistance develops, but not as quickly as for 1st Gen

  • Once the acquired resistance is happened > go to 3rd Gen

EGFR Acquired

  • EGFR > have a problem with resistance > major challenge for non-small cell lung cancer

  • Strategy > use combination therapy, with chemotherapy or targeted therapy to counter or bypass the mechanism > to allow the patient to stay on EGFR inhibitors for a bit longer

ALK-EML4 Translocations

  • Mutations in the chromosome

  • Chromosome shuffle > lead to tumour growth

  • ALK/EML4 genes are separated on chromosome 2

    • Important in non-small cell lung cancer

      • Because they swap places in genetic rearrangement

        • Creates ALK/ML4 fusion gene

          • Creates abnormal fusion protein

            • → Oncogenetic driver

              • → Drives uncontrolled cell growth

                • → Contributed to tumour formation

                  • → Activates the signalling pathway that helps cancer cells to grow, survive & spread

  • Activates

    • RAS — promotes cell growth & survival

    • STAT — helps with cell proliferation & immune evasion

    • PI3K — encourages cancer cells to survive & evade surrounding tissues

      • These pathways are like highways for cancer cells > enabling them to grow & spread, while also avoiding being detected by immune system

        • This is why the tumour is more aggressive & difficult to treat

ALK-EML4 Translocations

  • Tyrosine ……. (TKI)

    • TKI — targeted therapy used for ALK positive non-small cell lung cancer

      • Inhibits abnormal ALK protein that is driving cancer cells to proliferate

    • Brigatanib — 2nd Gen TKI

      • Targets ALK gene & is effective in treating LAK positive tumour

      • Beneficial for patients who have developed resistance to 1st Gen ALK inhibitors & shownefficacy in patients with ALK positive non-small cell lung cancer, even for those with a brain metastasis

      • Provides progression-free survival & helps control disease progression

      • ADR — early pulmonary events — e.g. pneumonitits & interstitial lung disease

        • → very severe & require careful monitoring of lung function during treatment

    • Alectinib — 2nd Gen multi-TK inhibitor > targets ALK, NTRK & RAS1

      • Expanding its therapeutic potential for patents with those mutations

      • Excellent efficacy in treating ELK positive, also especially for patients with brain metastasis > because they cross BBB

        • Because of that > side effects are muscle pain & fatigue > manageable

    • Lorlatinib

      • Useful for those who develop resisitance to 1st & 2nd Gen ALK inhibitors

      • Excellent activity against ELK positive tumours, including those that have developed resistance mutation or brain metastasis

      • Can cross BBB

        • → one of the advantages

      • ADR — high incidence of neurological, cognitive & speech issues — e.g. memory loss, difficulty concentrating

        • Peripheral neuropathy — nerve damage causing tingling & numbness

ROS1 Gene Fusion in NSCLC

  • Activates …..

    • RAS-MEK-ERK — involved in cell proliferation & survival

    • JAK-STAT3 — plays a role in immune revasion & inflammation

    • PI3K-AKT-mTOR — regualtes the self-metabolism & growth

    • SHP2 — promotes cell survival & proliferation

  • These pathways allow ROS1 positive tumour to bypass normal growth control mechanism & making ROS1 inhibitors highly effective treatment option

  • First line

    • Entrectinib (effective in CNS disease)

      • Targets ROS1 fusion & has good penetration to BBB

        • → Making it effective in treating any of the brain metastases & a common complication of advanced ROS1 positive

    • Crizotinib — multi-target TKI > targets ALK, MATS & ROS1

      • Many patients will develop resistance to this > need 2nd line therapy

  • Multi-TKI inhibitors

KRAS Mutations

  • KRAS Pathway Activation:

    • ….. cycling between an inactive ….

      • Active state — KRAS will trigger downstream signalling pathway & promote cell growth & proliferation

BRAF Mutations

  • BRAF mutation — oncogenic > uncontrolled growth of cancer cells

  • Targeted Therapy:

    • BRAF

      • Dabrafenib (BRAF inhibitor)

        • Specifically targets & inhibits the mutant > blocking activation of MAC & ERK pathways > stopping tumour growth

        • Used in combination with trametinib (MEK inhibitor) > further blocks downstream signalling of MEC pathway

          • → Increase treatment efficacy

          • → Enhances it as 1st line treatment

            • → Blocking both BRAF mutation & downstream of MEC signalling

          • Synergestic effect > improve patient outcome over monotherapy

Platinum

  • By blocking this chemotherapy agent > blocking DNA crosslink > no more DNA replication or transcription > cell death of both healthy & cancer cells

  • Non-specific chemotherapy > medications have side effects

  • Management of side effects — hydration, dose adjustment & neuropathy adjustment