The cancer is called PTO, or Primary Tumor Unknown. According to the Comprehensive Cancer Center in the Netherlands, about 1500 people are diagnosed with this diagnosis every year. Because the origin of the cancer is unknown, doctors cannot target it. 85 percent of them die within a year.
‘I can hope again’
“Who is happy to hear that he has lung cancer?” asks Geert-Jan Bouman (57) rhetorically. “So I am. Overjoyed even. Because now I can hope again.”
He then has to laugh a bit about it himself. Gallows humor. “What else can you do in my situation?”
At the beginning of April 2021, Geert-Jan felt a painful lump in his neck. At the end of the same month, he was given the harsh verdict in the hospital: PTO. So metastatic cancer. But it was impossible to find exactly where the source of the disease was.
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“I didn’t know that such a thing existed,” Geert-Jan tells RTL Nieuws. “It’s frustrating to hear: we can’t treat you because we don’t know what to treat.”
He received – in hopes of blessing – four treatments. But they didn’t catch on. The specialists gave up on him. Two, maybe three more months.
His current oncologist has explained to him how that is possible, such an untraceable ‘primary’ tumor. The source of the cancer may be smaller than a pinhead. “Then you suddenly understand why they sometimes don’t find him.”
Whole Genome Sequencing
And sometimes, explains clinical pathologist Kim Monkhorst of the Antoni van Leeuwenhoek Hospital, the primary tumor has even completely disappeared. The body’s immune system may have cleared it. “Then the metastases remain, but we were in the dark about what type of cancer it was.”
Monkhorst is one of the specialists who was involved in the development of a new test last year. “A test has been developed that uses the Whole Genome Sequencing (WGS) technique, where we can analyze the complete genome of the diseased cells. In the old situation, we looked, to put it simply, at a slice of tissue. Now look we get to the DNA at the molecular level.”
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Oncologists and pathologists in hospitals across the country have mapped more than 4,000 tumors at Hartwig Medical Foundation. “We then looked at which abnormalities in the DNA fit in tumors that we know from, for example, breast cancer, prostate cancer, cancer caused by smoking or UV sunlight, etcetera.”
For example, it was investigated how often WGS correctly predicts which type of tumor it is. This turned out to be the case in 84 percent of the cases.
Subsequently, this study was also applied to patients with PTO. “In the WIDE study, we demonstrated with ‘normal’ tumors that this technique can be applied in daily practice,” says Monkhorst. “Now we wanted to see if this new application is also valuable for PTO.”
‘A huge success’
And yes, that turns out to be the case. In two-thirds of cases, this technique helps find the type of cancer that is at the root of the metastases. “Of the 72 patients with PTO that we examined at the Antoni van Leeuwenhoek, we came to a diagnosis in 49 people.”
Monkhorst calls the results ‘an enormous success’. “In addition to the fact that we can now often make a diagnosis, we can also make a targeted treatment plan. The WGS test also gives us a better insight into which treatment best intervenes in abnormalities of the tumor. This way we can identify the weak spot. of the tumor.”
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Incidentally, the results are also an improvement for non-PTO patients. “This technique is an extra tool. Take the situation in which someone with breast cancer also develops lung cancer. Sometimes it is difficult to determine whether the lung cancer is a metastasis or a new, separate cancer. This research technique can then help us.”
hoping for a miracle
In this way, the original type of cancer was identified in Geert-Jan, who is being treated at the Erasmus MC in Rotterdam. “Lung cancer. From smoking,” he says dryly.
At the end of November, biopsies were taken of his metastases. He got the results on December 10. But a new metastasis was also found, in the brain. “They irradiate it away first. Then the neck and the lungs.”
“We are now going to keep it away as long as possible. And, very, maybe even cured. I think you have to be positive about it. I feel a lucky person that I was allowed to participate in the study. I was given up in May. Now I have a chance. No one can look into a crystal ball, but we hope for a miracle.”
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Mission Tumor Unknown
The attention for PTO and the establishment of the national consultation platform of specialists (CUPP-NL) is partly due to Warnyta Minnaard, Francine van der Heijden and Caroline Loef. After the death of their loved ones, they founded the patient organization Mission Tumor Unknown on.
They managed to get health insurers to reimburse the expensive WGS test – which costs about 3000 euros per person – via the basic package. Minnaard: “When my fiancé Hederik got PTO, it felt like the disease didn’t exist. The search for the untraceable cause makes you distraught. Many patients did not get treatment at all. People had to know: I am not the crazy patient out there. doesn’t belong.”
Pathologist Kim Monkhorst: “Warnyta has certainly been important. She also came at the right time. The technological possibilities are increasing, and politicians have also discussed the subject in the House of Representatives.”
Geert-Jan Bouman – audibly through the telephone – has to swallow hard when Warnyta is mentioned. “She’s great,” he says after a while. “I am very grateful that I came into contact with her and that she fought for us in this way.”
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Oncologists and pathologists throughout the Netherlands have now set up a consultation group especially for PTO. Kim Monkhorst: “We learn from each other. A care path is being developed, we are drawing up protocols. You could say that we have acquired a specialism. The PTO files used to be on different desks.”
Many hospitals now have a point of contact. “That is a great improvement for patients. No more going from cupboard to wall. Patients can start treatment much faster. You save a lot of time and you know much better what to treat. This gives patients hope.”
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