Summary report written by Katharina Kleinschmidt, Secretary of the PDWP.
The first international Educational Course on Cancer Predisposition took place in a fully virtual format from October 7 – 9, 2021. During this three-daymeeting, all aspects of the currently known cancer predisposition syndromes were presented by more than 30 international experts worldwide. Each session offered the opportunity to interact directly with the speakers in order to discuss and to ask questions. The meeting was attended by 84 participants from 24 nationalities.
Thursday, October 7
After the Welcome and Introduction from the Meeting Chairs Selim Corbacioglu, Josu de la Fuente, Katharina Kleinschmidt and Hilda Mekelenkamp, the meeting was opened with the general session. Gianni Cazzaniga from Italy gave highly relevant insights in new molecular techniques approaching clinical applicant. His talk was consecutively expanded by Laura Bettini (Italy) who continued by answering the question “How a pediatrician can analyze and interpret next generation sequencing data?”. Krzysztof Kalwak from Poland concluded this session with a clinically very challenging topic: “Nijmegen Breakage Syndrome – to transplant or not to transplant?”, showing impressively that cancer incidence was reduced nearly 7 times in patients who received preemptive haematopoietic stem cell transplantation.
George Vassiliou from Cambridge was the invited speaker for the Scientific Keynote Lecture, giving a brilliant talk on incidence, natural history and factors affecting leukaemic progression in clonal haematopoiesis.
His presentation was followed by Session 2 on Trisomy 21, GATA-1 and JAK-STAT pathways with an introduction on molecular and cellular biology from Irene Roberts (UK), complemented by a clinically extremely relevant presentation on transplantation aspects by Brenda Gibson (UK) and concluded by the talk from Shai Izraeli on CRLF2-IL7R-JAK-STAT driven ALL; relevant mutations for trisomy 21 and Ph-like syndromes. The first day of the Course was finally concluded with an exciting session on cytopenia and leukemia predisposition, moderated by Carlo Dufour from Italy.
Friday, October 8
The second day of the Course was dedicated to Bone Marrow Failure Syndromes, namely Diamond Blackfan Anemia (DBA), Fanconi Anaemia (FA) and Dyskertosis congenita (DC). Both, molecular and cellular biological as well as clinical aspects were elucidated, focusing the discussion on arguments pro and con transplantation. The relevance of the respective syndromes for cancer predisposition was analyzed by outstanding speakers such as Adriana Vlachos (USA) for DBA and Carlo Dufour for FA. The vivid discussions at the end of every session, moderated by experts in the field like Tayfun Güngör (Switzerland), Elif Ince (Turkey) and Cristina Diaz de Heredia Rubio (Spain) became very interactive despite the virtual format of the meeting, but supported by the live presentations during this webinar.
This day was dedicated also to the junior attendees: four young colleagues from Poland and the United States presented three case reports, one on DBA, FA and DC. This exciting session was closed by the joint presentation from Matthias Ballmaier and Manuela Germeshausen from Germany on the state-of-art treatment of congenital amegacaryocytic thrombocytopenia.
Saturday, October 9
Day 3 of the Cancer Predisposition Course was opened by the extraordinary Educational Keynote Lecture on the complex genetic landscape of familial MDS and AML, presented by Jude Fitzgibbon from UK. The following sessions on GATA-2 and SAMD9/SAMD9L have been structured in giving insights in aspects of molecular and cellular biology of both mutation complexes, followed each one by a talk on the clinical implications of those findings. In conclusion, Brigitte Strahm (Germany) and Rakesh Goyal (India) evaluated the role of transplantation for GATA-2 and SAMD9/SAMD9L, respectively.
The Keynote Symposium on Leukaemia Predisposition, chaired and moderated by Tobias Feuchtinger (Germany) concluded this exciting meeting. Akiko Shimamura from Harvard Medical School and Dana Farber/Boston Children’s Hospital reflected on Shwachman Diamond syndrome and clonal evolution. Jean-Hugues Dalles (France) reported the available data on secondary malignancies post-transplantation, and finally Charlotte Niemeyer from Freiburg reported an excellent presentation on JMML as a paradigm for leukaemia predisposition.
Summary report written by Teija Schröder, Marjola Gjergji (Members NG Paediatric Committee), Julia Ruíz Pato (Member NG Global Education Committee) and Hilda Mekelenkamp (Chairperson NG Paediatric Committee).
Saturday, October 9 – NURSES GROUP
Nurses Session 1: Diseases, treatment and follow up
During this first nurses session, Daria Pagliara explained the disease Diamond Blackfan Anemia (DBA). She explained DBA as a syndrome with a wide clinical and genetic heterogenicity. She discussed the role of steroids and HSCT and also shows us that outcomes have improved significantly over the past years post-HSCT. The next speaker, Alex Mohseny discussed Dyskeratosis Congenita, a Telomere Biology Disorder, based on a patient’s journey. He clearly explained the role of telomeres and the awareness professionals should have of mutations, length of telomeres, and other pathology in patients with bone marrow failure. The last speaker, Dorine Bresters explained Fanconi Anemia (FA); what it is, the role of HSCT, and the specific considerations for FA, as the increased cancer risk. Genetherapy could be an alternative treatment in the future. During the discussion, we focused on the uncertainty for patients and parents with these diseases and how they deal with the uncertainty about the possibility of cancer. Long term follow-up is important for all the discussed diseases to screen for abnormalities.
Nurses Session 2: Transplantation care
Alberto Castagna talked about nurses’ daily practice in light of the challenges in pediatric HCST patients. The advanced nurse role included 5 expertise areas: clinical, education, research, counseling, and leadership. The nurses’ challenges in HSCT pediatric patients include nausea, CVC, transfusion, GVHD to prevention and education. Alberto also introduces innovative therapies like CAR T-cell therapy and how nurses must deal with the new therapies. To be an EBMT nurse it’s needed specific competence to manage the most specific challenges.
Mihaela Hartman explained the skincare in pediatric HSCT patients. She started with the fundamental function of the skin, emphasizing the importance of taking care of the skin in our daily nursing care. Patients undergoing HSCT may have skin problems due to conditioning regimes. She mentioned some skin protectant products like cavilon, and hydrocolloid and transparent dressings. Nurses can take care of the patient’s skin by daily documenting with photos, assessment, and education.
Mariska Nieuweboer and Martine Mol explained advanced care planning in pediatric HSCT patients. They explained the role of the pediatric palliative care team. Based on a patient case they illustrated how they use the ACP as a process during the HSCT admission of the patients. They explained that ACP was focused on possible future care of the patient, perspectives from the child’s, and the parents’ feelings. Nurses and physicians can follow a specified training course to practice ACP.
Nurses Session 3: Psychosocial support
The third session was about psychosocial support. The first speaker was father Luigi Zucaro who had an excellent presentation of “Coping and hope - dealing with uncertainty”. He discussed interestingly about the difficult situations with coping and hope. Coping strategies are a set of behavioral and cognitive strategies used to deal with stressful situations. He talked about hope as coping strategy, allowing a greater capacity to cope with crisis situations, and the maintenance of good behaviors related to long periods of treatment. In the event of a poor prognosis, elements of hope must not be excluded. Hope and coping are important aspects in nursing care, to understand the religious and spiritual values and the level of hope of patients. The second speakers were Marja Lopperi and Kirsi Kuusjärvi. It is essential for the child’s psychosocial well-being that the parent can be present at all times. It’s important to have the opportunity to play and engage in active, creative activities. If the child is unwell and cannot play, the play therapist usually listens to stories and music or they can find something else relaxing to do. Photos of home, family, siblings and pets keep the child connected to everyday life. Play therapists encourage parents to take pictures from the hospital, to afterwards discuss with their child about the things that happened. It is important for young people to keep in touch with friends, school and receive peer support and to meet others in the same situation. The third presentation, “patient´s perspectives” was an interesting discussion of a parent Maarten Lubbers and Hilda Mekelenkamp, who was interviewing him. Maarten Lubbers was telling about their family experiences as their child was hospitalized for an HSCT. It was interesting to hear the parents’ voice and their point of view of the treatment.
Nurses Session 4: Improving nursing care
In this session about Improving nursing care we had brilliant and engaging presentations.
The first presentation was delivered by Marijke Quaghebeur about Transition from pediatric to adult care. She reminded us that transition is a process with steps in which adolescents are well trained and guided to the take lead in their life and healthcare as an adult. She highlighted that a good follow-up results in better survival and that implementing pathway for transition has been included in JACIE requirement. A very interesting point is how to prevent care gap at transition, in her institution a transition coordinator has been introduced in the transition program as well as joint consultations between the pediatric and adult settings. Next speaker was Alba Fernández-Arroyo that continued with Ethical dilemmas in HSCT. She introduced the difficulties in decision-making in children and AYAs, how relevant is to see informed consent as a constitutive part of health care practice, where parent permission together with childhood assent will engage them in their healthcare process. She underlines the importance that surrogate decision-making of parents should seek to maximize the benefits for their child. Alba points out that in a situation of poor prognosis, adolescent’s consent or refusal should be considered, although this remains controversial and challenging for families and healthcare providers. To finalize this interesting session, Ingelise Hvidt presented an overview about Care for the HSCT patients in critical situations. She went through the potential critical situations of HSCT patients such as pulmonary complications, fluid overload, infections, endothelial damage and others. She highlighted the importance of specialized trained nurses when taking care of critical patients, the need to use a systematic approach to assess patients frequently and in a timely manner, early detection of complications and communication of findings to the team.
In conclusion, this first Educational Course on Cancer Predisposition can be considered a huge success, evidenced by the continuously high quotes of the participants during the three-day virtual presentations, and by the extraordinary interactive discussions in the end of every session, rendering this virtual meeting extremely lively. A bi-annual edition of this format is considered to be developed for the upcoming years, as the understanding of the underlying genetic factors particularly in the field of childhood malignancies is of crucial relevance. Exponential increase of knowledge in molecular biological techniques will further improve the understanding of complex, rare and potentially fatal diseases.