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Sarcomas and Rare Tumors

Pathology

Soft tissue sarcomas are rare tumors arising from the malignant transformation of cells within the so called soft tissues, including muscle, connective tissue, blood and lymphatic vessels, nerves, ligaments, and adipose tissue. More than 50 histological subtypes have been identified, each with distinct biological and clinical features.

These tumors can develop in virtually any anatomical site. In more than 50% of cases, they occur in the limbs or superficial trunk, while the remainder may arise in the head and neck, internal organs (such as the uterus), or the retroperitoneum, a deep abdominal region rich in fat and connective tissue.

Some sarcoma subtypes are more typical of pediatric age, such as rhabdomyosarcoma, which affects approximately 4–7 children per million under 15 years of age annually. Overall, sarcomas show three incidence peaks: childhood, young adulthood (18–30 years), and over 65 years.

The Numbers in Italy

Soft tissue sarcomas are rare diseases, with an incidence of approximately 5 cases per 100,000 people per year, representing about 1% of all adult cancers. According to the Italian Association of Cancer Registries (AIRTUM), approximately 2,230 new diagnoses of sarcomas and rare cancers were recorded in Italy in 2024, including 1,289 in men and 941 in women.

Symptoms

When sarcomas affect the limbs, they typically present as a mass or swelling that progressively increases in size over weeks or months. They are usually painless, except when in close contact with nerves or sensitive structures.

When located in the abdomen or retroperitoneum, symptoms are often non-specific and may include weight loss, reduced appetite, fatigue, or abdominal swelling. In some cases, the tumor may cause intestinal obstruction, gastrointestinal bleeding, or lower limb edema due to vascular compression.

The lack of specific symptoms often leads to delayed diagnosis in abdominal sarcomas compared with limb localized disease.

Risk Factors

Given the heterogeneity of soft tissue sarcomas, there are no universal risk factors. However, several conditions may increase risk:

  • Radiation exposure, particularly previous radiotherapy treatments
  • Chemical exposure, including vinyl chloride, dioxin, and certain pesticides
  • Viral agents, such as HBV and HHV8 (associated with Kaposi sarcoma)
  • Genetic predisposition or familial syndromes, although rare
  • Lymphedema, often following lymph node dissection, associated with lymphatic sarcomas

Sarcomas and Rare Tumors Program

A dedicated multidisciplinary program is active at INOC – Istituto Nazionale Oncologico Candiolo, ensuring timely diagnosis, individualized treatment, and continuous follow up.

The Institute actively participates in clinical and preclinical research, with the aim of improving diagnostic and therapeutic strategies and reducing the burden of so called “orphan diseases”, for which evidence and specific treatments are often limited due to low incidence.

Management of rare tumors requires strong national and international collaboration. The Institute serves as a regional and national reference center and actively participates in networks such as the Italian Sarcoma Group (ISG), the Rare Tumor Network (RTR), EORTC, and ERN EURACAN. Within these networks, the Institute participates in and coordinates clinical and translational studies aimed at improving treatment strategies.

Pathologies Treated

The program covers a broad spectrum of rare tumors, including:

Soft tissue sarcomas: liposarcoma, leiomyosarcoma, undifferentiated pleomorphic sarcoma, synovial sarcoma, angiosarcoma, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, alveolar soft part sarcoma, fibrosarcoma, desmoplastic small round cell tumor, hemangioendothelioma, PEComa, and other histological types

  • Gastrointestinal stromal tumors (GISTs)
  • Bone sarcomas: osteosarcoma, Ewing sarcoma, chondrosarcoma, giant cell tumor, and other rare forms
  • Kaposi sarcoma
  • Desmoid tumor / aggressive fibromatosis
  • Tenosynovial giant cell tumor (pigmented villonodular synovitis)
  • Merkel cell carcinoma

Multidisciplinary Approach

The program is based on a multidisciplinary approach involving medical oncologists, surgical oncologists, orthopedic surgeons, ENT surgeons, gynecologic oncologists, urologists, radiation oncologists, pathologists, radiologists, nuclear medicine specialists, gastroenterologists, and pain specialists.

Dedicated psycho-oncologists, dietitians, physiotherapists, social workers, and nurses support the patient throughout the care pathway, ensuring comprehensive and continuous care.

Diagnosis and Examination

The diagnostic pathway for sarcomas and rare cancers generally begins when the primary care physician or other specialists identify suspicious symptoms or findings, when a radiologic examination suggests the presence of a lesion, or after the detection of a histologic diagnosis of a rare neoplasm belonging to this category.

Patients who enter the Reception and Service Center (CAS) are evaluated based on their clinical condition and the assessments already performed. During this phase, all necessary tests are indicated to complete the diagnostic process, precisely define the staging of the disease, and plan the most appropriate course of treatment.

Common diagnostic and staging tests in soft tissue/bone sarcomas and rare tumors include:

  • Magnetic resonance imaging (MRI) of the affected site
  • Computed tomography (CT) chest-abdomen with and without contrast medium and of the involved body district
  • Total-body PET, when indicated
  • Bone scintigraphy, if necessary
  • For gastrointestinal stromal sarcomas (GISTs), an endoscopic (gastroscopy or colonoscopy) or echendoscopic procedure with biopsy collection may be useful
  • Ultrasound-guided biopsy or CT scan
  • Surgical biopsy, in case of failure of guided biopsy

Tumor Characterization

Definitive diagnosis is based on histological examination of biopsy samples performed by the pathologist. Accurate diagnosis is essential for treatment selection.

Due to the rarity and complexity of sarcomas, pathological evaluation requires specialized expertise. At INOC – Istituto Nazionale Oncologico Candiolo, integrated immunohistochemistry, flow cytometry, cytogenetics, and molecular biology techniques are used to support a precision medicine approach.

Therapies

After diagnosis, the GIC multidisciplinary team evaluates tumor type, size, extent of disease, patient age, and clinical condition to define an individualized treatment plan.

The therapeutic strategy is discussed with the patient, including equivalent alternatives when available. Depending on disease stage, treatment may include surgery, chemotherapy, targeted therapy, immunotherapy, radiotherapy, or combined approaches.

Whenever possible, patients are offered participation in clinical trials to access the most advanced treatment options. The Sarcomas and Rare Tumors Program includes multiple research protocols evaluating chemotherapy, targeted therapies, and immunotherapy.

Surgery

Surgery remains the main treatment for sarcomas, often in combination with other therapeutic modalities. High complexity procedures require multidisciplinary planning, as tumor site, anatomical location, and histopathological features vary significantly between cases and involve multiple specialist disciplines.

Unfortunately, some patients initially receive inadequate surgical treatment, which may negatively affect both disease outcome and quality of life. For this reason, it is essential that surgery is performed in highly specialized centers or in facilities with the required expertise and resources.

Surgical treatment must always be radical and complete, ensuring full removal of all cancer cells, as radiotherapy cannot compensate for incomplete surgical excision.

In selected cases, metastasectomy, such as resection of lung metastases, may be considered when a complete macroscopic and functional disease clearance is achievable.

Postoperative Recovery – ERAS Protocol

At INOC – Istituto Nazionale Oncologico Candiolo, surgical care is supported by the Enhanced Recovery After Surgery (ERAS) protocol, which aims to promote a rapid return to independence, reduce hospital stay, and decrease postoperative complications.

The protocol is based on a multidisciplinary approach involving surgeons, anesthesiologists, dietitians, nurses, psychologists, physiotherapists, and social and healthcare workers, all coordinating the patient’s perioperative pathway.

Key elements of the program include:

  • Optimal pain control
  • Minimally invasive surgical techniques
  • Preoperative counseling
  • Early rehabilitation

Additional components of the protocol include:

  • Nutritional support, including avoidance of prolonged preoperative fasting
  • Personalized anesthesia, enabling early return to normal oral intake
  • Restricted use of drains, catheters, and intravenous lines
  • Early mobilization

Chemotherapy

Chemotherapy uses drugs capable of destroying cancer cells by targeting their high rate of proliferation compared to healthy cells. However, this mechanism can also affect normal tissues, leading to side effects, which are generally reversible after treatment discontinuation. Before starting therapy, the oncologist discusses the planned drugs with the patient and strategies to mitigate their impact.

 

When it is Used

In soft tissue sarcomas, bone tumors, and other rare cancers, chemotherapy may be used at different stages of treatment:

After surgery (adjuvant): to reduce the risk of recurrence
Before surgery (neoadjuvant): to reduce tumor size and facilitate surgical removal; in selected cases it may be combined with radiotherapy after multidisciplinary evaluation
Metastatic disease: to slow disease progression, reduce symptoms, and improve quality of life

 

Mode of Administration

Intravenous: the most common route, administered in day hospital or inpatient settings; infusion duration may range from minutes to several hours
Oral: in tablet form, as in some cases of gastrointestinal stromal tumors (GISTs)

Treatment is given in cycles, alternating periods of therapy with rest periods. The number and duration of cycles depend on tumor type, drug regimen, and individual response.

 

Clinical Considerations

Chemotherapy is mainly indicated in localized sarcomas of the limbs or trunk with high-grade histology and/or a diameter greater than 5 cm, with the aim of reducing the risk of distant metastasis.

Clinical studies have shown that in these cases chemotherapy may delay the onset of metastases, although it has not demonstrated a significant improvement in overall survival.

For this reason, treatment decisions must be individualized and shared with the patient, taking into account prognostic factors, tumor sensitivity to available drugs, and the balance between expected benefits and potential toxicity.

Biological Therapies

Biological therapies, also called molecular targeted therapies (target therapies), are treatments designed to selectively act on specific targets predominantly expressed in cancer cells, such as receptors, growth factors, and enzymes.

These targets are involved in tumor growth and progression, resistance to conventional therapies, and angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen required for growth.

The drugs used include pazopanib, sunitinib, and regorafenib, which act against the vascular endothelial growth factor (VEGF) pathway.

In gastrointestinal stromal tumors (GISTs), tyrosine kinase inhibitors such as imatinib, sunitinib, and regorafenib represent a standard therapeutic approach.

Immunotherapy

Immunotherapy uses drugs that do not directly target cancer cells, but instead stimulate the immune system to recognize and attack the tumor, overcoming inhibitory mechanisms activated by the disease.

At present, it represents a standard treatment for only a limited number of specific cancers, such as Merkel cell carcinoma, which is treated with avelumab. In contrast, immunotherapy is not yet an established therapeutic strategy for most soft tissue sarcomas and bone sarcomas.

Radiotherapy

Radiation therapy uses high-energy radiation to destroy cancer cells. It is typically delivered on an outpatient basis, with daily sessions from Monday to Friday, over treatment courses that may last from a few days to several weeks.

It represents an important therapeutic option in selected sarcomas and rare tumors. It may be administered before surgery (neoadjuvant radiotherapy) to reduce tumor size, or after surgery (adjuvant radiotherapy) to decrease the risk of recurrence. In selected cases, it can be combined with chemotherapy following multidisciplinary evaluation.

In advanced soft tissue sarcomas, radiotherapy is mainly used with a palliative intent, aimed at controlling symptoms and slowing disease progression.

Ongoing Support

At INOC – Istituto Nazionale Oncologico Candiolo, continuous support is provided before, during, and after treatment, ensuring that each patient is accompanied throughout the entire care and recovery pathway.

Management of Side Effects

Treatment for rare sarcomas and tumors may be associated with side effects that can variably impact quality of life. However, these effects can often be mitigated, and in some cases prevented, through specific treatments and appropriate lifestyle measures.

At INOC – Istituto Nazionale Oncologico Candiolo, physicians and nurses within the multidisciplinary team are available to provide patients with comprehensive support in managing the side effects that may occur during the course of treatment.

Direct Access to Specialists

To ensure timely support and provide prompt answers to questions or concerns, INOC – Istituto Nazionale Oncologico Candiolo offers a dedicated assistance service for all patients.

From Monday through Friday, between 8:00 a.m. and 5:00 p.m., patients can contact the Oncology Day Hospital Secretariat at +39 011 993 3775 to request an urgent consultation.

Patients are promptly connected with their specialist physician, ensuring rapid access to expert advice, clear information, and immediate support when needed.

Supportive and Palliative Care

The oncology patient is a complex patient who needs multidisciplinary support for the management, not only of his or her pathology, but also of all associated situations involving both physical symptoms, such as pain or weight loss, and the psychological sphere.

Cancer patients often have complex needs that extend beyond the treatment of the disease itself and require comprehensive, multidisciplinary care.

At INOC – Istituto Nazionale Oncologico Candiolo, patients who need additional support have access to specialists from a range of disciplines, ensuring personalized management of cancer-related symptoms and associated conditions. Services may include nutritional counseling, physical rehabilitation, pain management, and support for other medical needs that may arise during the course of treatment and recovery.

The goal is to improve quality of life, promote overall well-being, and provide comprehensive care tailored to each patient’s individual needs.

Genetic Counseling

Most sarcomas occur sporadically, without a family history of the disease or identifiable predisposing risk factors.

Nevertheless, certain hereditary cancer syndromes are associated with an increased risk of developing sarcomas. These include neurofibromatosis type 1 (which confers a persistent risk of malignant peripheral nerve sheath tumors), Gardner syndrome (associated with a high incidence of desmoid tumors), Li-Fraumeni syndrome, tuberous sclerosis complex, hereditary retinoblastoma, and Werner syndrome.

At INOC – Istituto Nazionale Oncologico Candiolo, a dedicated Genetic Counseling Clinic is available for patients who may benefit from hereditary cancer risk assessment. Consultations are provided by clinical geneticists with expertise in hereditary and familial cancer syndromes and may include genetic testing when indicated.

Individuals identified as having a high genetic risk of developing sarcoma may be considered for enrollment in a dedicated surveillance program aimed at facilitating early detection and ongoing monitoring.

Social Work Services

The Social Work Service at INOC – Istituto Nazionale Oncologico Candiolo provides information, guidance, and support to patients and their families regarding access to community services and the welfare and social security benefits available under current legislation.

During dedicated consultations, social workers assist with matters such as disability recognition, access to aids and prosthetic devices, employment-related benefits and leave, and other social support services.

The service is available on Wednesdays and Fridays from 9:00 a.m. to 1:00 p.m. and can be contacted at +39 011 993 3059.

Follow-up

Once treatment has been completed, patients enter the follow-up phase, during which regular visits and diagnostic tests are performed to monitor the effectiveness of treatment, identify and manage any long-term side effects, and assess the patient’s functional recovery.

Follow-up care plays a crucial role in the early detection of disease recurrence, allowing timely intervention when needed. These appointments also provide an important opportunity for patients to discuss concerns and receive ongoing support from their specialist team.

Follow-up visits are scheduled by the patient’s treating specialist, who evaluates the patient’s overall health status and reviews the results of the prescribed investigations.

The duration of follow-up typically ranges from 5 to 10 years. Visits are generally more frequent during the first years after treatment and become less frequent over time. The frequency and type of examinations depend on the sarcoma subtype, tumor stage, and the treatments received.

Typical Follow-Up Schedule for Sarcoma Patients

  • Medical examination and blood tests
    • Every 3–4 months during the first 2 years
    • Every 6 months from years 3 to 5
    • Annually thereafter
  • Localized soft tissue sarcomas treated surgically
    • Chest CT scan and imaging of the operated site (MRI, ultrasound, or X-ray, as appropriate)
    • Every 3–4 months during the first 2 years
    • Every 6 months from years 3 to 5
    • Annually thereafter
  • Advanced disease
    • Chest and abdominal CT scans every 3–4 months
  • Gastrointestinal stromal tumors (GIST)
    • Endoscopic surveillance may be recommended when clinically indicated following surgery.

Multi Disciplinary Team

Every cancer requires a multidisciplinary approach at all stages of disease management. At INOC – Istituto Nazionale Oncologico Candiolo, this is provided by a team of specialists from various clinical and surgical departments, known as the GIC (Interdisciplinary Care Group or MDT). The GIC ensures that each patient is supported throughout the diagnostic and therapeutic process, including arranging and coordinating examinations and maintaining communication with the patient and their family.
For each patient, the GIC (MDT) defines and shares a personalized care pathway based not only on the type and stage of the tumor but also on the patient’s individual characteristics. The goal is to achieve the best possible outcomes both oncologically and functionally, while maintaining a high quality of life.
The Group also collaborates closely with the Institute’s researchers to provide patients with rapid access to the latest innovations in screening, diagnosis, and treatment.

Clinical Divisions

At INOC – Istituto Nazionale Oncologico Candiolo, the diagnostic and therapeutic pathway for sarcomas is managed through a coordinated multidisciplinary approach involving several specialized clinical divisions, including:

Clinical Studies

The Program’s multidisciplinary approach is closely integrated with a translational research strategy, fostering continuous collaboration between clinical and laboratory-based research. This synergy helps accelerate the development of novel therapies, identify new therapeutic targets, and improve treatment strategies for patients with sarcoma.

From the very beginning of the patient’s care pathway, eligible patients may be offered the opportunity to participate in translational research studies. The aims and potential implications of the research are carefully explained, and participation is entirely voluntary, requiring the patient’s informed consent.

Why Choose Us

At INOC – Istituto Nazionale Oncologico Candiolo, sarcoma patients are treated in a highly specialized manner, thanks to the synergistic work of the dedicated Interdisciplinary Care Group (GIC).

Clinical Experience and Tailored Approach

Thanks to the large number of cases treated each year, INOC – Istituto Nazionale Oncologico Candiolo is a national reference center for the care of this disease. This extensive experience allows us to manage even the most complex cases, always using a personalized approach, tailored to the clinical and individual profile of each patient.

Imaging Technologies and Advanced Diagnostics

Establishing a treatment plan always begins with an accurate and timely diagnosis. Patients have access to state-of-the-art imaging technologies, such as ultrasound, contrast-enhanced CT, MRI, and cholangio-RM, which are critical for accurately assessing the extent of the tumor.

Advanced laboratory tests, including molecular analyses, are also available to help define biological features of the disease and guide treatment choices.

Minimally Invasive Surgical Techniques and Multidisciplinarity

When appropriate, surgery is performed using minimally invasive techniques, such as laparoscopy or thoracoscopy, which can reduce surgical trauma, facilitate faster recovery, and improve postoperative quality of life. All treatment decisions are discussed and agreed upon within the Multidisciplinary Tumor Board (GIC), ensuring a coordinated, personalized, and integrated approach to patient care.

Clinical Research and Access to Trials

As an IRCCS (Scientific Institute for Research, Hospitalization, and Healthcare), INOC – Istituto Nazionale Oncologico Candiolo combines clinical care with a strong focus on scientific research. Patients can be considered for participation in active clinical trials, offering access to innovative therapies not yet available in standard practice. This integration of care and research is a distinctive strength that translates into tangible benefits for patients.

Care and Support Every Step of the Way

The Interdisciplinary Care Group (GIC or MDT) supports the patient at every stage: from diagnosis, through treatment, to follow-up. Special attention is paid to nutritional support, psychological health and reintegration into daily life. The organization of checkups, examinations, and treatment is designed to ensure continuity, serenity, and a humane, caring approach to each patient’s needs.