Latest news with #Neuroblastoma


Daily Mail
3 days ago
- Health
- Daily Mail
EXCLUSIVE My toddler had a fall when she was playing and woke up the next day with completely BLACK eyes... now she's been diagnosed with an ultra-agressive cancer and we don't know how long we have left
A mother has told how her two-year-old was a 'normal happy, healthy toddler' just days before a devastating diagnosis left the child fighting for her life. Carlyn Dooley, from Corby, rushed her daughter Paisley to hospital on April 2 after she woke up with black rings around her eyes. Initially, the 25-year-old thought Paisley might have injured herself playing and never expected she was about to hear news that would make her 'whole world fall apart'. 'They called us through and they said, "We're really sorry, but we found a mass in your daughter's tummy and we think it might be cancer." 'I didn't want to understand it at the start. My heart broke instantly', Ms Dooley, who is 34 weeks pregnant, told MailOnline. Paisley has Stage 4 High-Risk Neuroblastoma, a very aggressive and rare childhood cancer with a devastating 50% survival rate. The diagnosis came as a huge shock given that the child showed no prior symptoms of being unwell. Paisley's family have set up a GoFundMe to help them cover the future cost of her treatments - which could be in excess of £250,000. Initially the 25-year-old thought Paisley might have injured herself playing, and never expected she was about to hear news that would make her 'whole world fall apart' 'Paisley was a normal, happy, healthy little one year old. She would run around, she would play, she'd go to playgroups three times a week', said Ms Dooley. 'She was full of life. There were never any signs. There were never any indicators. She was just a normal, happy, healthy toddler.' Paisley is currently undergoing chemotherapy treatment which has had 'horrible side effects' including sickness and hair loss. 'I don't even have the words to describe it. It's something I wouldn't wish on anybody. We were just a normal, happy family,' Ms Dooley said. 'We were supposed to be bringing her baby brother into the world as a normal, happy family of four, and now we're watching our daughter who has just turned two years old fight for her life. 'It's literally ripped us apart'. Ms Dooley added: 'It's heartbreaking to see your normal, happy, healthy little girl that had beautiful long blonde hair be told she's got cancer, start chemotherapy and lose her hair, I can't even explain it'. The distraught mother says Paisley is confused about why her hair is falling out but is too young to comprehend what's happening. 'She, she doesn't really understand. We just say, "You're just poorly, it will come back', because how do you tell a two-year-old that they could die?', Ms Dooley said. Ms Dooley said Paisley has an an 'amazing' attitude and has stayed cheerful throughout her numerous hospital visits. 'She even runs up and down when she's having chemo,' her mother said. The night before her diagnosis Paisley had fallen over while playing with her father Ross, but showed no signs of injury. But, when Ms Dooley went in to wake the toddler up the next morning she was shocked to see 'Paisley had big black bloodshot panda eyes.' 'I had no idea what was going on. I thought maybe worst case scenario, like, she's like, hurt herself, like quite badly,' the mother recalled. She took the child to hospital, expecting doctors to agree with her theory but knew something was 'very wrong' when medics told her this couldn't be the case. 'Even the hospital was concerned because I told them what had happened and they didn't understand how the nature of her fall would cause the injuries that her face had. 'Her face did look obviously really bruised but her eyes were bloodshot, a child falling over shouldn't get bloodshot eyes,' Ms Dooley said. After conducting numerous scans and tests doctors found it was a cancer called High Risk Neuroblastoma that had caused the marks on Paisley's face. 'It's a really hard cancer to tackle. That's why treatments are minimum of 18 months long. 'So much can go wrong at any time', said Ms Dooley. She added how Paisley could get to remission but the chances of the cancer returning are more than 50%. And, If she can't get to remission or she does not get to remission and then she relapses, Paisley survival rate drops to 5%. Ms Dooley said if this happens there is 'not much that can be done on the NHS' and she will need to pay for Paisley to be taken further a field for treatment - the cost of which 'can be in excess of £250,000.' 'There's things that can be done overseas but that's self-funding, which isn't going to be cheap. That's going to cost a lot of money,' the mother added. The toddler's parents have set up a GoFundme page to help them afford to pay for further treatment should it be needed.


Daily Record
25-04-2025
- Health
- Daily Record
Scots cancer tot to get treatment abroad as locals rally round to raise cash
The parents of a tot with cancer have been left 'amazed' after the community raised money for potentially life-saving treatment abroad. Three-year-old Tommy Quinn was diagnosed with Neuroblastoma last year after a lump was found in his stomach. The discovery was made after Tommy had not wet his nappy, was hardly eating or sleeping, and was throwing up his bottle. Tommy is set to finish his NHS treatment this year and depending on the results of the scans, the plan is for him to go to either America or Europe for further treatment . But, the expenses may be less pressure for Tommy's parents after a 'stranger' set up a fundraiser to cover the costs. Tommy's mum Nicole Quinn, 37, said: "It was surreal when we got the diagnosis . Everything was like a whirlwind. "When the doctor felt the lump in his stomach, they told us that it could have been constipation. "But then, we were told it was a tumour." Tommy is currently undergoing immunotherapy treatment for the rare cancer which primarily affects children under the age of five. It develops from early nerve cells called neuroblasts and often starts in the abdomen. Despite the treatment making Tommy feel unwell at times, Nicole says the Bishopbriggs tot is still a cheeky and charming chap. She added: "He's terrorising the nurses and drawing everyone in with his cheeky smile. "He loves entertaining people. He's always been that way, even before the diagnosis." T in the Town Hall will take place at Airdrie Town Hall on May 10. The event has been organised by joiner Darren Meechan who was told about Tommy's story through a friend and decided to take it one step further. Darren, 37, said: "When I checked out who Tommy was, I discovered that he was about the same age as my son and car mad. "That really brought Tommy's story home to me because I couldn't imagine being in his parents' shoes." Darren asked Stevie Douglas of The McCommitments to perform at the fundraiser , where Darren will also be performing with his band, Deck Side of the Moon. There will also be 'Scotland's largest tool tombola' event at the fundraiser . Stevie, who is the lead singer of The McCommitments, has also turned his decommissioned London taxi into a portable gig venue to help raise even more funds for Tommy. Stevie said: "My plan is to drive around Scotland and let musicians come in and play a live show in there. This should hopefully raise awareness for Tommy as well as funds." Stevie even took Tommy for a spin in the taxi not too long ago - which the youngster loved. Stevie said: "Tommy is some wee boy. I remember joking and telling him the ride was a fiver and he tried to push his toy firetruck which he brought with him through the coin tray for payment. "When I drove home I just burst out greeting because it hit me like a ton of bricks." Nicole said she was 'amazed' when she learned about the fundraiser . She said: "These men don't really know us personally but they took Tommy under their wing. "The event - and especially the taxi - are a brilliant idea. "Times are so difficult for people right now, but for these strangers to take this on it just amazing."

Associated Press
11-03-2025
- Health
- Associated Press
AI-Driven Advancements in Neuroblastoma Diagnosis and Bone/Bone Marrow Metastasis Prediction
Groundbreaking Study Unveils Key Mechanisms in Neuroblastoma Bone and Bone Marrow Metastasis / -- Neuroblastoma (NB), the most prevalent extracranial solid tumor among children, is characterized by a high rate of metastasis. The pathogenesis of NB with bone or bone marrow metastasis (NB-BBM) and its complex immune microenvironment remain poorly understood, posing challenges for effective risk prediction for BBM and limiting therapeutic strategies. This research, published in the Genes & Diseases journal by a team from The Children's Hospital of Chongqing Medical University, highlights key genomic and single-cell transcriptomic alterations in NB-BBM, underscoring the significance of predictive pathology for NB-BBM and its role in understanding tumor onset, progression, and heterogeneity. The researchers used a Swin-Transformer deep learning model to analyze 142 paraffin-embedded hematoxylin-eosin-stained tumor section images to predict NB-BBM occurrence, achieving a classification accuracy exceeding 85%. In parallel, single-cell transcriptomics identified a tumor cell subpopulation (NB3) and two tumor-associated macrophage (TAM) subpopulations (SPP1+ TAMs and IGHM+ TAMs) closely associated with BBM progression. Interestingly, findings reveal that oxidative phosphorylation (OXPHOS) also plays a crucial role in BBM development. Additionally, this study highlighted transketolase (TKT) as a crucial metabolic molecule linked to BBM. The researchers showed that the TKT gene was strongly associated with the clinical features of NB patients, especially in the BBM group. Functional experiments validated TKT's involvement in malignant behavior, while pathway enrichment analysis showed correlations between high TKT expression and cell cycle activity. Moreover, expression analysis of immune checkpoint genes CD274, LAG3, and TIGIT revealed their significant upregulation in NB-BBM, suggesting potential targets for antibody-based immunotherapies. Furthermore, immunohistochemical validation demonstrated a pronounced expression of PD-L1 in NB-BBM, indicating its potential as a biomarker. Although this research provides a predictive model for NB-BBM risk assessment, it has certain limitations, including the need for multicenter validation of the predictive model and prospective studies to confirm clinical utility. Despite these challenges, this study offers a pathodiagnostic prediction for the risk of NB-BBM, enhances other imaging diagnoses, and elucidates the cellular heterogeneity of initial, progressive, and distant metastatic sites in NB. Reference Title of the original paper - Integrated multi-omics characterization of neuroblastoma with bone or bone marrow metastasis Journal: Genes & Diseases Genes & Diseases is a journal for molecular and translational medicine. The journal primarily focuses on publishing investigations on the molecular bases and experimental therapeutics of human diseases. Publication formats include full length research article, review article, short communication, correspondence, perspectives, commentary, views on news, and research watch. DOI: Funding Information: Key Project of the National Key R&D Plan 'Research on Prevention and Control of Major Chronic Non-Communicable Diseases' (China) Ministry of Science and Technology of the People's Republic of China National Key R&D Program of China (No. 2018YFC1313000, 2018YFC1313004) # # # # # # Genes & Diseases publishes rigorously peer-reviewed and high quality original articles and authoritative reviews that focus on the molecular bases of human diseases. Emphasis is placed on hypothesis-driven, mechanistic studies relevant to pathogenesis and/or experimental therapeutics of human diseases. The journal has worldwide authorship, and a broad scope in basic and translational biomedical research of molecular biology, molecular genetics, and cell biology, including but not limited to cell proliferation and apoptosis, signal transduction, stem cell biology, developmental biology, gene regulation and epigenetics, cancer biology, immunity and infection, neuroscience, disease-specific animal models, gene and cell-based therapies, and regenerative medicine. # # # # # # CN: 50-1221/R Genes & Diseases +86 23 6571 4691 X LinkedIn Instagram YouTube Other Legal Disclaimer: