The oncology patient journey: from clinical signs to biopsy

As terrifying as it sounds, a cancer diagnosis isn’t always an undefeatable entity, especially when being offered the right care. The right care for patients includes several medical and surgical specialties such as Oncologists, Surgeons, Radiation Oncologists, Radiologists, Anatomopathologists, Nutritionists, and many others.  

Recognizing Cancer Suspicion 

When examined by a medical specialist (General Practitioner, Emergency Specialist), the patient should offer every detail of the onset symptoms such as nausea, vomiting, weakness, fatigue, cough, etc. (if any) or signs such as bleeding, visible weight loss, discoloration of the skin, etc. and is strongly recommended that our patient facilitates an honest relationship with the examining doctor, because this is the most important moment of the process of offering a right diagnosis. 
If the examining doctor has even a slight suspicion regarding an oncologic diagnosis, the patient would be referred to a specialist to perform extra investigations, depending on the site of the disease.  
 

Case Example: Persistent Respiratory Symptoms 

For example, if the first symptom of a patient is a dry cough, that is not responding to basic treatment, the specialist will be ordering a radiography and/or a CT scan of the lungs/thorax, to enhance the possibility of a right differential diagnosis (discerning a benign disease from a potentially malignant one).   

Addressing Cancer Suspicion with Diagnostic Action 

If the radiological findings suggest that the symptom (cough) is caused by a mass/tumor inside the lung parenchyma and not by, for example, a pneumonic consolidation (pneumonia seen on a scan), our patient is urgently referred to a thoracic surgeon to evaluate if a biopsy should be performed and if the suspicion is countable. 

This is the phase where we tackle the mass/tumor and get a sample of it. It can be done via open surgery, minimally invasive surgery, a biopsy needle, or a bronchoscopy, depending on the patient’s health status, localization, and dimension of the tumor.  

Shortly explained:

1. Through open surgery (and under general anesthesia) the mass will be sampled through a large skin, muscle, or pleura incision, facilitating the surgeon’s view of the tumor. With the minimally invasive surgery, the only difference is the small size of the incision;  
   
2. A biopsy needle will punch a hole through the skin and the tumor, getting a sample of it, guided by a CT scan or an echograph. 
3. Bronchoscopy – a slim tube with a camera and a light on it will be advanced through the patient’s mouth, going through the larynx (voice box), trachea, and bronchi, getting a view of the inside of the organ and paving the way for a biopsy (a needle will be advanced through a canal inside of the bronchoscope and get a sample of the tumor).

N.B.: the method used to get the biopsy is variable depending on the dimension, location of the tumor and urgency of the symptoms.

The Role of Histopathological Examination 

 The second step in cancer treatment is the histopathological examination of the biopsy sample, which distinguishes between benign and malignant cells to confirm a cancer diagnosis. However, in some cases, a biopsy is not needed. For example, hepatocellular carcinoma can be diagnosed through imaging due to its distinct characteristics. Similarly, certain brain tumors, leukemias, and multiple myelomas can be diagnosed without a biopsy. Additionally, metastases generally do not require re-confirmation via biopsy from the new site. 

How is this investigation performed?  

• Sample collection (biopsy) – This can be done through several methods: complete excision of the tumor, partial removal, fine needle aspiration (FNA), or using an instrument with a larger caliber needle (tru-cut).  

• Fixation of the sample – After collection, the tissue is placed in a preservation solution, usually 10% formalin, to prevent decomposition and cellular changes. This maintains the integrity of the cellular structures. The fixation process can last from a few hours to several days, depending on the sample size.  

• Paraffin embedding – After fixation, the sample is progressively dehydrated by passing it through ethanol solutions of increasing concentrations. It is then embedded in paraffin (a substance that solidifies the tissue and prepares it for the next step).  

• Sectioning – The paraffin block is sliced using a precision instrument called a microtome into very thin sections, approximately 3-5 micrometers thick. These sections are then placed on glass slides for microscopic analysis.  

• Staining – The sections on the slides are stained to highlight cellular structures. The most commonly used stain is Hematoxylin-Eosin (H&E).  

• Examination – Once the sample is stained, a pathologist examines the appearance of the cells under a microscope, taking into account the tissue structure, morphology, and the presence of anomalies or signs of malignancy.  

• The result – Based on microscopic observations, the pathologist issues a report that includes a detailed sample description and elaborates a diagnosis.  

• Additional tests – Given the significant advancements in cancer treatment, the treating physician needs to know all the details and characteristics of the neoplastic cell to develop a more targeted treatment plan and attempt to reduce side effects while. For this reason, most neoplastic cases require additional investigations after a histopathological examination confirms the cancer diagnosis. These include immunohistochemistry, in situ hybridization (FISH, DISH), and PCR.  

• Interpretation of the result – The final step involves the treating physician (oncologist or radiation oncologist) analyzing the examination results and then communicating the diagnosis to the patient. Based on this diagnosis, the physician will develop a treatment plan, considering the patient’s characteristics and their pathology.  

 Conclusions 

In conclusion, the pathway from cancer suspicion to confirmed diagnosis requires precise and timely medical interventions. Early recognition of symptoms, coupled with open and detailed communication between the patient and healthcare provider, is paramount in ensuring the appropriate diagnostic procedures are initiated. Whether through imaging or biopsy, the process of determining the nature of a mass—benign or malignant—demands careful execution, involving various medical specialists and advanced diagnostic methodologies. The biopsy, followed by histopathological analysis, constitutes the cornerstone of an accurate diagnosis, which is essential for formulating a personalized and targeted treatment plan. While the process may seem daunting, this initial phase is of critical importance, as it establishes the foundation for informed therapeutic decisions and enhances the potential for a favorable clinical outcome.

Authors:
Bogdan Mocanu, MD,  Radiation Oncology 
Alexandru Zariosu, MD, Radiation Oncology

References: 

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