Detailed Example: What an OncoExpertAI Oncology Case Analysis Looks Like

This is a demonstrative and anonymized example of an oncology case analysis report, intended to illustrate the type of information and level of detail provided by OncoExpertAI services. Each actual report is customized based on the documents and specifics of each patient’s case. The information presented here should not be interpreted as medical advice applicable to other cases and does not replace a direct medical consultation.

PATIENT NAME/ PERSONAL ID CODE :******************** ID: ********************** (This information is not mandatory).

DIAGNOSIS OF ONCOLOGICAL DISEASES

• Right breast neoplasm lower-inner quadrant: pT4b, pNx, LI, PnO (Invasive breast carcinoma NST (no special type), ulcerated at the skin level. pT4b, pNx, L1 (lymphovascular invasion present), PnO (perineural invasion not apparent). (ER positive 98%, PGR positive 98%, Her2 negative (0), Ki67 positive 20%).
• Surgery – sector resection 05/20/2024.
• Metastases
  • bilateral pleural with minimal bilateral pleural effusion
  • right axillary lymph nodes
  • multiple osteolytic bone lesions at the thoracolumbar vertebrae, rib cage, and pelvic bones

Details about all associated diseases, medical history, and treatments performed for each

• Hypertension (HTN) (noted in the hospital discharge summary) – treatment not specified.
• Hypertensive heart disease with congestive heart failure (noted in the hospital discharge summary) – treatment not specified.
• Pigmented seborrheic keratosis (noted in the first histopathology report) – treatment not specified.
• Fibrocystic mastopathy (noted in the first histopathology report) – treatment not specified.
• Epidermal inclusion cyst (noted in the medical analysis report) – treatment not specified. Diffuse interstitial infiltration in both lungs.
• Small bilateral renal cortical and parapelvic cysts (largest 22/9 mm on the left).
• Abdominopelvic hernias (maximum parietal defect 11 cm).
• Severe left-sided coxarthrosis changes

ANATOMOPATHOLOGICAL AND IMMUNOHISTOCHEMICAL INVESTIGATIONS with complete description and results obtained

Histopathology Report No. *************** (06/14/2024):

The examined specimens include a cutaneous tumor and a breast tumor.

• Microscopy:
  • Pigmented seborrheic keratosis.
  • Invasive breast carcinoma NST (no special type), ulcerated at the skin level, with dimensions of 6/5 cm, exhibiting a growth structure in the form of islands and solid areas.
  • Moderately differentiated histologic grade G2, Nottingham score of 7 points (Ft=3, A=2, M=2).
  • Deep resection margin located 2 mm from the neoplastic formation.
  • Area of interstitial hemorrhage and tumor necrosis present (comedonecrosis).
  • Lymphovascular and perineural invasion absent (LVO; PnO).
  • Neoplastic infiltration at the breast level.

Conclusion:

• Invasive breast carcinoma NST, grade G2, with Nottingham score of 7. No lymphovascular or perineural invasion, pT4b, pNx / LVO; PnO.
• Medical Analysis Report No. ************ (08/27/2024): Microscopic Examination:
  • Breast tissue fragments with malignant tumor infiltration, carcinomatous structure, with lymphovascular invasion present, perineural invasion not apparent, areas of hemorrhage, and comedo-type necrosis.
  • Tumor proliferation infiltrates the overlying skin, with ulceration.

Immunohistochemical Examination:

• E-cadherin: diffusely positive in tumor cells.
• ER (Estrogen Receptor): positive in approximately 98% of tumor cells.
• PGR (Progesterone Receptor): positive in approximately 98% of tumor cells.
• Her2: no significant membranous reaction (0).
• Ki67: positive in approximately 20% of tumor cells.
• p63: positive in the epidermis.

Conclusions:

• Invasive breast carcinoma NST, moderately differentiated, G2, with ER and PGR positive, Her2 negative (0). Lymphovascular invasion present, perineural invasion not apparent.
• Stage pT4b, pNx, LI, PnO, Stage IIIB.

Block *********

• Skin fragments with epidermal inclusion cyst and areas of seborrheic keratosis.

Abnormal results in imaging examinations

• Thoraco-abdominopelvic CT (08/22/2024):
  • Iodine-avid tumor nodules attached to both pleurae, predominantly posterior, and in the right lung. Maximum dimensions: 16/11 mm (right) and 22/10 mm (left).
  • Fluid layer in both lungs (7 mm right, 2 mm left).
  • Diffuse interstitial infiltration in both lungs.
  • Thickened postoperative scar in the lower-inner quadrant of the right breast.
  • Two iodine-avid nodules suspicious for malignancy (7 mm and 5 mm) in the lower-outer quadrant of the right breast.
  • Right axillary tumor adenopathies (largest 27/15 mm).
  • Enlarged liver (18.7 cm craniocaudal diameter right lobe).
  • Small bilateral renal cortical and parapelvic cysts (largest 22/9 mm on the left).
  • Abdominopelvic hernias (maximum parietal defect 11 cm).
  • Multiple osteolytic lesions at the thoracolumbar vertebrae, rib cage, and pelvic bones, suggestive of secondary bone metastases.
  • Severe left-sided coxarthrosis changes.

Abnormal results in laboratory tests

• Blood glucose: Elevated values (259 mg/dl, 184 mg/dl, HbA1c 8.2%). Collection dates not clearly specified.
• ALT (TGP): 21 U/L (slightly elevated). Collection date not specified.
• AST (TGO): 21 U/L (slightly elevated). Collection date not specified.
• Urea: 39 mg/dl (elevated). Collection date not specified.
• Fibrinogen: 483 mg/dl (elevated). Collection date not specified.
• INR: Fluctuating values, sometimes elevated (1.13, 1.36). Collection dates not clearly specified.
• PT (Prothrombin Time): Fluctuating values, sometimes elevated. Collection dates not clearly specified.

Investigations in chronological order with obtained results

• 05.2024 – 05/20/2024: Laboratory tests (blood glucose, AST, ALT, urea, creatinine, amylase, INR, fibrinogen, HbA1c, complete blood count). Note: Exact collection dates for each test not clearly specified.
• 06.2024: First histopathology report (no. 63883-63887) – diagnosis of invasive breast carcinoma NST.
• 08.2024: Sample collection for the second medical analysis report (no. 200941).
• 08.2024: Thoraco-abdominopelvic CT.
• 08.2024: Issuance of the second medical analysis report (no. 200941), including immunohistochemical results.
• Surgical interventions in chronological order with obtained results
• 05.2024 – 05/20/2024: Excision of the right breast tumor and aspiration drainage. Result: Favorable postoperative outcome.

THERAPEUTIC PROPOSAL

• Treatment objectives:
  • Disease control.
  • Symptom relief.
  • Improvement of quality of life.
• Proposed therapeutic plan:
  • Initiation of hormonal therapy with an aromatase inhibitor ± CDK4/6 inhibitor.
  • In case of progression, switch to Fulvestrant ± CDK4/6 inhibitor.
  • Consider chemotherapy in monotherapy if the disease progresses under hormonal therapy.
  • Administration of bisphosphonates or Denosumab for bone metastases.
  • Use of palliative radiotherapy for painful bone metastases.
• Monitoring and follow-up:
  • Periodic clinical evaluations.
  • Regular imaging investigations.
  • Monitoring of laboratory parameters (complete blood count, biochemistry).
• Psycho-social support:
  • Psychological counseling for the patient and their family.
• Involvement in support groups
• General therapeutic options for stage IIIB breast cancer
• Based on the presented information, the patient has a diagnosis of invasive breast carcinoma NST (no special type), stage IIIB, pT4b, pNx, L1, Pn0, ER positive 98%, PR positive 98%, HER2 negative (0), Ki-67 positive 20%. Additionally, there are bilateral pleural metastases with minimal bilateral pleural effusion, right axillary adenopathies, and multiple bone metastases. Furthermore, the patient has several associated conditions, including hypertension, hypertensive heart disease with congestive heart failure, diabetes mellitus (elevated blood glucose), abdominopelvic hernias, severe left-sided coxarthrosis, and renal cysts.
• General therapeutic options:
• Surgery:
  • Mastectomy: For stage IIIB, a modified radical mastectomy may be considered, but in the presence of distant metastases, surgical indications may be limited to palliative purposes or local tumor control.
  • Surgical excision of metastatic lesions: In selected cases, surgical intervention for bone or pleural metastases may be considered for palliative purposes.
• Radiotherapy:
  • External radiotherapy: Can be used for local control of the primary tumor and regional adenopathies.
  • Palliative radiotherapy: For painful bone metastases or other symptomatic areas to relieve symptoms and improve quality of life.
• Chemotherapy:
  • Systemic chemotherapy: For advanced-stage breast cancer, chemotherapy can reduce tumor burden and slow disease progression.
  • Regimens may include anthracyclines and taxanes, but the specific choice of drugs must be tailored based on the patient’s general condition and comorbidities.
• Hormonal therapy:
  • Given the ER-positive and PR-positive status (98%), hormonal therapy is a key option.
  • Aromatase inhibitors (e.g., letrozole) or selective estrogen receptor modulators (e.g., tamoxifen) can be used.
  • Hormonal therapy may be preferred for patients with hormone-sensitive tumors, especially if there are contraindications for chemotherapy.
• Targeted therapy for bone:
  • Bisphosphonates (e.g., zoledronic acid) or denosumab can be used to treat bone metastases and prevent skeletal-related events.
• Immunotherapy:
  • Currently, immunotherapy has a limited role in hormone-positive, HER2-negative breast cancer.
  • However, in specific cases, it may be considered in the context of clinical trials.
• Management of comorbidities:
  • Hypertension and heart failure: Optimization of cardiological treatment is essential before and during oncological therapy.
  • Diabetes mellitus: Blood glucose control is important, especially in the context of therapies with corticosteroids or other drugs that may affect glucose metabolism.
  • Multidisciplinary evaluation: Collaboration between oncologist, cardiologist, endocrinologist, and other specialists is crucial to tailor the treatment plan to the patient’s specific needs.
• Palliative care and support:
  • Symptom management: Pain control, management of pleural effusion, and other associated symptoms.
  • Psycho-social support: Psychological counseling and support to help the patient and family cope with the diagnosis and treatment.
• Clinical trials:
  • The patient may be eligible for participation in clinical trials investigating new therapies or treatment combinations for advanced breast cancer.

Additional observations:

• Monitoring and follow-up: Periodic evaluations to monitor treatment response and disease progression.
• Multidisciplinary team involvement: Essential to provide an integrated treatment approach, including medical oncologists, radiotherapists, surgical oncologists, cardiologists, endocrinologists, and other relevant specialists.
• Treatment personalization: Therapeutic decisions must be tailored based on the patient’s general condition, preferences, and priorities identified with the medical team.
• Recommendation: The patient should be evaluated by a multidisciplinary team of specialists to develop a personalized treatment plan that considers all relevant medical and personal aspects. Open communication with the medical team and active involvement in the decision-making process can contribute to improved therapeutic outcomes and quality of life.

Analysis regarding the need for additional investigations and genetic tests to improve treatment and prognosis

1. BRCA1 and BRCA2 mutation testing:

• Justification:
  • Germline mutations in the BRCA1 and BRCA2 genes are associated with an increased risk of breast and ovarian cancer.
  • The presence of these mutations can influence therapeutic options, particularly the use of PARP inhibitors.
• Therapeutic implications:
  • If the patient has a BRCA1/2 mutation, they could benefit from treatment with PARP inhibitors (e.g., olaparib, talazoparib).
  • Studies have shown the efficacy of these drugs in metastatic breast cancer in patients with germline BRCA mutations.
• Recommendation:
  • Genetic counseling and testing for BRCA1/2 mutations are recommended, especially if there is a family history of breast or ovarian cancer.

2. PIK3CA mutation testing:

• Justification:
  • Mutations in the PIK3CA gene are common in hormone-positive breast cancer (ER+/HER2-).
  • These mutations may confer resistance to certain hormonal therapies but open the possibility of using PI3K inhibitors.
• Therapeutic implications:
  • In the presence of a PIK3CA mutation, treatment with alpelisib in combination with fulvestrant can be considered.
  • Alpelisib is approved for patients with advanced or metastatic breast cancer, ER positive, HER2 negative, with a PIK3CA mutation.
• Recommendation:
  • Testing for the PIK3CA mutation is recommended to assess the patient’s eligibility for targeted therapies.

3. ESR1 mutation testing:

• Justification:
  • Mutations in the ESR1 gene can lead to resistance to hormonal therapies, particularly aromatase inhibitors.
• Therapeutic implications:
  • Identifying ESR1 mutations can guide the choice of optimal hormonal therapy (e.g., use of fulvestrant).
• Recommendation:
  • Evaluation of the presence of ESR1 mutations in case of progression under hormonal therapy.

4. PD-L1 expression and MSI/dMMR status testing:

• Justification:
  • Overexpression of PD-L1 and the presence of high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR) can indicate potential responsiveness to immunotherapy.
• Therapeutic implications:
  • In certain cancer types, including triple-negative breast cancer, immunotherapy with pembrolizumab has shown benefits.
• Recommendation:
  • Although less common in hormone-positive breast cancer, testing for PD-L1 and MSI/dMMR may be considered in the context of disease progression and lack of other therapeutic options.

5. Extended molecular profiling via next-generation sequencing (NGS):

• Justification:
  • NGS can identify other rare mutations or genetic alterations (NTRK fusions, PALB2, HER2 mutations) that may be therapeutically actionable.
• Therapeutic implications:
  • Identifying such mutations can open opportunities for specific targeted therapies (e.g., larotrectinib for NTRK fusions).
• Recommendation:
  • An extended tumor genomic profile is recommended, especially in the context of exhaustion of standard therapeutic options.

6. HER2 status evaluation by alternative method (e.g., FISH):

• Justification:
  • Rarely, there may be discordance between immunohistochemical results and HER2 gene amplification.
• Therapeutic implications:
  • Confirming HER2 status can influence eligibility for anti-HER2 therapies (trastuzumab, pertuzumab).
• Recommendation:
  • If there are suspicions regarding the HER2 result, retesting using the FISH technique may be considered.

Other Necessary Additional Investigations:

• Additional imaging:
  • PET-CT scan: Can provide a comprehensive assessment of disease extent and identify previously undetected metastases.
  • Brain MRI: If neurological symptoms are present, to rule out brain metastases.
• Detailed cardiological evaluation:
  • Given the hypertensive heart disease and potential cardiotoxicity of certain chemotherapies (e.g., anthracyclines), a comprehensive cardiological evaluation (echocardiography, ejection fraction assessment) is essential.
• Endocrinological and metabolic evaluation:
  • Diabetes mellitus: Blood glucose control and adjustment of antidiabetic treatment to prevent complications during oncological therapy.
  • Liver and kidney function: Monitoring biochemical parameters to adjust drug doses if necessary.
• Osteoporosis and bone health evaluation:
  • Due to bone metastases and the potential use of therapies affecting bone metabolism, evaluation of bone mineral density and administration of bisphosphonates or denosumab are important.
• Potential Benefits of Genetic Tests and Additional Investigations:
• Treatment personalization: Identifying specific mutations enables therapy customization to maximize efficacy and minimize toxicity.
• Improved prognosis: Some mutations may be associated with a better or less favorable prognosis, influencing therapeutic decisions.
• Access to clinical trials: The patient may become eligible for clinical trials investigating innovative targeted therapies.
• Conclusions and Recommendations:
• Testing for BRCA1/2 and PIK3CA mutations is recommended, given their potential impact on therapeutic options.
• Genetic counseling before and after testing to understand the implications of results and make informed decisions.
• Extended molecular profiling (NGS) to identify other actionable mutations.
• Multidisciplinary approach: Collaboration between medical oncologist, geneticist, surgical oncologist, radiotherapist, cardiologist, endocrinologist, and other relevant specialists.
• Close monitoring of comorbidities and adjustment of concomitant treatments to optimize tolerance to oncological therapy.
• Psycho-social support and counseling to help the patient cope with the emotional impact of the diagnosis and treatment.
• Periodic reassessment of the treatment plan based on the response to therapy and the occurrence of any side effects.
• Final Note: The decision to perform genetic tests and additional investigations should be made in collaboration with the patient, considering potential benefits, associated risks, and the patient’s preferences. The goal is to provide personalized, maximally effective care with a positive impact on quality of life.

Case analysis and therapeutic recommendations in the context of disease progression, recurrence, metastases, and complications

Introduction and case summary

1. The patient ***********, aged 76, has a diagnosis of right breast cancer in the lower-inner quadrant, stage IIIB, pT4b, pNx, L1, Pn0. Histopathologically, it is an invasive breast carcinoma NST (no special type), moderately differentiated (G2), with a Nottingham score of 7 points. Immunohistochemically, the tumors are ER positive 98%, PR positive 98%, HER2 negative (0), with Ki-67 positive in 20% of tumor cells. The patient underwent a sector resection on 05/20/2024, and subsequent investigations revealed the presence of bilateral pleural metastases with minimal bilateral pleural effusion, right axillary adenopathies, and multiple bone metastases in the thoracolumbar vertebrae, rib cage, and pelvic bones. Notable comorbidities include hypertension, hypertensive heart disease with congestive heart failure, diabetes mellitus (hyperglycemia), abdominopelvic hernias, severe left-sided coxarthrosis, and renal cysts.

.2. Therapeutic options in case of disease progression In the context of advanced breast cancer with metastases, the main objectives are disease control, symptom relief, and improvement of quality of life.

• Hormonal therapy: Given the ER/PR positive status, hormonal therapy remains a first-line option. The following can be used:
  • Aromatase inhibitors (e.g., letrozole, anastrozole).
  • Fulvestrant, in monotherapy or in combination with CDK4/6 inhibitors.
• CDK4/6 inhibitors: The combination of an aromatase inhibitor with a CDK4/6 inhibitor (e.g., palbociclib, ribociclib, abemaciclib) has shown benefits in prolonging progression-free survival in patients with HR-positive, HER2-negative breast cancer.
• Consideration of PIK3CA mutation: If genetic testing reveals PIK3CA mutations, alpelisib can be administered in combination with fulvestrant.
• Systemic chemotherapy: In case of disease progression under hormonal therapy, chemotherapy regimens can be introduced:
  • Capecitabine
  • Vinorelbine
  • Eribulin
• Targeted therapy: If specific genetic mutations are identified (e.g., BRCA1/2, PALB2), PARP inhibitors (e.g., olaparib) can be used.

Recommendations for disease progression, recurrence, metastases, and complications

Hormonal therapy

Given that the tumor is ER positive 98% and PR positive 98%, hormonal therapy is the mainstay of treatment.

• Aromatase inhibitors (AI): Recommended for postmenopausal patients.
  • Letrozole 2.5 mg once daily.
  • Anastrozole 1 mg once daily.
• Fulvestrant: Option in case of progression under AI.
  • Fulvestrant 500 mg intramuscularly on days 1, 15, 29, then monthly.
• Addition of CDK4/6 inhibitors:
  • Palbociclib, Ribociclib, or Abemaciclib in combination with AI or Fulvestrant.
  • Benefits in prolonging progression-free survival.

Chemotherapy

In case of disease progression under hormonal therapy or in the presence of severe symptoms:

• Monotherapy with chemotherapeutic agents:
  • Capecitabine: 1250 mg/m² twice daily, days 1-14, every 21 days.
  • Vinorelbine: 25 mg/m² intravenously, once weekly.
  • Eribulin: 1.4 mg/m² intravenously, days 1 and 8, every 21 days.
• The choice of chemotherapy regimen must be tailored based on:
  • Patient’s general condition.
  • Comorbidities (heart failure, diabetes).
  • Drug toxicity profile.

Therapy for bone metastases

• Bisphosphonates:
  • Zoledronic acid 4 mg intravenously every 4 weeks.
• Denosumab:
  • 120 mg subcutaneously every 4 weeks.
• Benefits:
  • Reduction of skeletal-related event risks (fractures, spinal cord compression).
  • Relief of bone pain.

Radiotherapy

• Palliative radiotherapy:
  • Indicated for bone pain control.
  • Moderate doses administered in 1-10 fractions, depending on needs.
• Radiotherapy for pleural metastases:
  • May be considered for symptoms refractory to other treatments.

Management of complications

• Malignant pleural effusion:
  • Thoracentesis for symptom relief.
  • Chemical pleurodesis in case of frequent recurrences.
• Pain management:
  • Non-opioid and opioid analgesics according to the WHO pain ladder.
  • Interdisciplinary consultation with a pain management specialist.
• Comorbidities:
  • Optimization of cardiological treatment:
    • Monitoring of ventricular ejection fraction.
    • Avoidance of cardiotoxic drugs.
  • Strict glycemic control:
    • Adjustment of antidiabetic therapy.
    • Periodic monitoring of blood glucose and HbA1c.

Surgical interventions

• Palliative surgery:
  • In case of local complications (ulcerations, bleeding).
  • Surgical stabilization of pathological bone fractures.

Special considerations in the context of recurrence and progression

• Reevaluation of tumor receptor status:
  • Tumors may undergo genetic changes over time.
  • Biopsy of a metastatic lesion to reconfirm ER, PR, HER2.
• Additional genetic testing:
  • PIK3CA mutations: If present, Alpelisib can be used in combination with Fulvestrant.
  • BRCA1/2 mutations: Identification may indicate the use of PARP inhibitors (e.g., Olaparib).

Nutritional and physical support:

• Physiotherapy to maintain mobility, especially in the context of coxarthrosis.
• Nutritional counseling to maintain adequate nutritional status.

Pain management:

• Opioid and non-opioid analgesics, depending on pain intensity.
• Interdisciplinary interventions, including consultations with pain management specialists.

6. General recommendations

• Multidisciplinary approach: Collaboration between oncologist, radiotherapist, surgical oncologist, cardiologist, endocrinologist, diabetologist, and other specialists is essential.
• Periodic monitoring:
  • Imaging investigations (CT, bone scintigraphy) to assess treatment response and disease progression.
  • Laboratory tests, including tumor markers, liver, and kidney function.
• Evaluation for clinical trials: If possible, the patient may benefit from new therapies through participation in clinical trials.
• Psychological counseling and support: Emotional support for the patient and their family, given the psychological impact of advanced disease.

Multidisciplinary approach

• Medical oncologist: Coordination of systemic therapy.
• Radiotherapist: Planning and administration of palliative radiotherapy.
• Surgical oncologist: Evaluation of the need for palliative surgical interventions.
• Cardiologist: Management of heart failure and hypertension.
• Endocrinologist/Diabetologist: Diabetes control.
• Orthopedist: Management of bone metastases and coxarthrosis.
• Palliative care specialist: Optimization of quality of life, symptom management.