“It was useful for prevention”.

In 2008, Merce was barely two years old. She had been sleeping badly for a long time, she had lactose intolerance. One day, her mother, Marta, took her to the pediatrician, who noticed that she had a a lump in his abdomen. A subsequent ultrasound revealed that the child suffered from… Wilms tumor, a kind of kidney cancer. “But it turns out that we had already had another case of childhood cancer. And my step mother also had cancer as an adult,” the mother says.

Mercè was treated at Vall d’Hebron Hospital (Barcelona). She had a kidney removed and now she’s a a healthy 17-year-old student. But in 2017, the center created the pediatric oncogenetics consultation, pioneer in Spain, who tested the child and discovered that the child’s tumor contained a genetic component, although not hereditary. In other words, his case had more to do with a genetic alteration produced as part of the company’s activity. Embryonic development only with an “inheritance” from a parent.

“My mother-in-law was also detected that genetic component. And this allowed us to orient the diagnosis towards adults, to prevention. For example, my sister-in-law and my husband used to do colonoscopies every year until recently, because they eventually discovered that they had… are not as risky as their mother, explain Martha. Tomorrow, Wednesday 15 February, the International Childhood Cancer Day.

10% hereditary

Every year in Catalonia, about 250 new cases of cancer in children and adolescents, most of which are sporadic or non-hereditary. Despite this, approximately 10% of pediatric patients with cancer have some a predisposition to disease. These are inherited disorders associated with an increased risk of certain types of cancer, a percentage that increases as knowledge of the genetics of the disease progresses.

This is why the Vall d’Hebron created, almost six years ago, the following initiative pediatric oncogenetics consultation, optimize the molecular diagnosis and medical follow-up of pediatric patients with a genetic predisposition to cancer. Since 2017, the clinic has prescribed a genetic study of 90 of 156 pediatric patients. assessed after studying their family tree. 46 patients, i.e. more than 50%, had a hereditary predisposition to cancer.

“Genetics has made great progress in recent years. In this practice we see children who already have cancer and we believe it is due to an inherited predisposition to cancer. genetic cause, but also to other patients who do not have cancer but who we believe do. are likely to catch it. This is how we are launching surveillance and early detection programs,” he explained during a press conference on Tuesday. Lucas Moreno, Head of the Pediatric Oncology and Hematology Department of Vall d’Hebron.

Family tree

This consultation on pediatric oncogenetics brings together information from three to four generations of the family tree of the patient, to detect whether there are family history which explains the child’s diagnosis. “But often that doesn’t give us the information we need to determine the cause.” We don’t see all cancer patients, but those who have tumors before their time, who have a history or who have certain dysmorphological or anthropometric characteristics,” he explained. Estela Carrasco, genetic counselor in the department of medical oncology. For example, aspects such as the distance between the eyes, the website the implantation of the ears, the characteristics of the palm lines or the existence of macrocephaly may indicate a “specific syndromic entity,” he detailed. Anna Maria Cueto-Gonzalez, pediatrician specializing in clinical genetics.

In the case of the patient Mercè, the Vall d’Hebron doctors found that, although her family history “had cancer”, these cases had nothing to do with hers. “Family history analysis helps us see if there is an association between tumors,” Carrasco said. She explains that a genetic alteration does not necessarily have to be hereditary. ” All tumors are genetic, but not all are hereditary. In the case of Mercè it was not hereditary, we saw it in the test. There are genetic alterations that are produced during… embryonic development, but you can only know that by analyzing the tumour,” she added.

Thus, in the case of Mercè, the hereditary cause having been ruled out, it was found that the “risk” was in her, The young woman (who assures us that this whole process has awakened her interest in genetics, a field she plans to study) therefore does the necessary follow-up. “The rest of her family is not at the same risk as her. Once you have detected that a person is a carrier of this genetic alteration, you examine the rest of your family members. Seeing that you don’t have that risk it takes you out of this follow-up, out of that at-risk group,” Carrasco said.