Rare cancers, a detail hidden in the DNA may reveal which are the most aggressive

A study has identified possible predictive genetic biomarkers linked to the aggressiveness of certain rare and often unpredictable sarcomas

by Maria Rita Montebelli

3 June 2026

3' min read

Translated by AI

Versione italiana

Key points

When two genes come together in the wrong place
The medicine of the essential "invisible to the eyes"
Why rare cancers are a huge challenge

3' min read

Translated by AI

Versione italiana

From an American study comes a discovery that could change the way some very rare and often unpredictable sarcomas are dealt with.

The protagonist of research by the Sylvester Comprehensive Cancer Center of the University of Miami, which was included in the programme of the American Society of Clinical Oncology (ASCO) 2026 annual conference, one of the world's most important meetings in the field, is the Solitary Fibrous Tumor (SFT), a very rare form of sarcoma that originates from connective tissue. It can appear in the chest, but also in the abdomen, inside the pancreas, in the brain or in the limbs.

Some of the affected patients have a slow and controllable disease; others suddenly develop metastases and aggressive relapses. What makes the difference between such different behaviours was not known until now, but American researchers have found a key to interpreting the behaviour of these tumours within their DNA: it all seems to be down to a genetic 'assembly error'.

When two genes come together in the wrong place

The team of DrGina D'Amato focused on a particular gene fusion, NAB2-STAT6, which is the typical molecular signature of these tumours. Basically, two neighbouring genes, at the level of chromosome 12, break and rejoin abnormally, creating a new gene structure. Not all fusions, however, are the same.

Analysing 48 patients treated in Miami, the team found that the exact point where this fusion occurs appears to make a huge difference in tumour behaviour. Fusions defined as 'distal', i.e. occurring towards the end of the gene, were found to be associated with larger, more aggressive tumours, more prone to recur and above all to spread to other organs. The most striking finding for the researchers concerned metastasis: no patient with the 'proximal' variant (the one occurring towards the early part of the gene) developed tumour spread, as opposed to about a quarter of patients with the distal variant.

The medicine of the essential 'invisible to the eyes'

Until now, physicians have assessed the risk of aggressiveness of these sarcomas using traditional clinical criteria: patient's age, tumour size, microscopic appearance. A scheme known as the 'Demicco score'. But the future of oncology is increasingly moving towards precision medicine: no tumour, even rare ones like these, can be treated in a 'standard', one-size-fits-all way; it is necessary to understand the biological mechanisms that drive them. Two patients with the same diagnosis may have profoundly different diseases at the molecular level and therefore need different therapeutic strategies. 'Our hope,' the researchers explain, 'is to understand in advance which patients need tighter controls or more aggressive treatments, using these fusions as predictive and prognostic biomarkers. This is a cultural revolution as well as a scientific one, implying a shift from a medicine based above all on observation, to one founded on a careful reading of the tumour's genetic code.

Why rare cancers are a huge challenge

The great revolutions in the field of oncology in recent years (from immunotherapy to molecularly targeted drugs) have mainly concerned very frequent cancers such as those of the lung, breast or colon. But there are hundreds of rare cancers that, added together, affect millions of people worldwide. The problem with rare forms is that each individual tumour affects only a small number of patients. And this slows down research, limits investment and makes it difficult to develop targeted therapies. Therefore, the work presented at ASCO has significance beyond the individual sarcoma: it shows how crucial it is to build international registries, biobanks and global collaborations to collect sufficient data to understand the biological behaviour of these diseases.

Interesting as it is, however, this one from the University of Miami is a preliminary study, which cannot yet change clinical practice. But the direction is set. Research is building cellular models and experimental systems to understand why certain gene fusions make tumours more aggressive and which drugs may work best in those specific cases. This is the paradigm of modern oncology: to know the tumour from the inside, in its deepest mechanisms, in order to target it more and more precisely.

Brand connect

I prossimi eventi

Tutti gli eventi

Notizie e approfondimenti sugli avvenimenti politici, economici e finanziari.

Destination Health