China
Africa
Explore chapters and articles related to this topic
Soft Tissue Sarcomas
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Thomas F. DeLaney, David C. Harmon, Karol Sikora, Francis J. Hornicek
Alveolar rhabdomyosarcomas show a translocation at t(2;13)(q35;q14) or less often t(1;13)(p36;q14); the chimeric genes have been cloned and have been termed PAX3–FKHR and PAX7–FKHR, respectively. These translocations are associated with over-expression of the fusion product. PAX7–FKHR tumors more often present with extremity lesions, are more likely to be localized, and are less likely to metastasize widely than PAX3–FKHR tumors. A downstream target of PAX3–FKHR may be MET, which encodes a receptor involved in growth and motility signaling. Molecular determination of minimal residual disease in alveolar rhabdomyosarcoma is possible, and patients with positive peripheral blood after treatment show poorer survival than patients without micro-circulating disease.
Leukotrichia in Vitiligo
Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
M. Ramesha Bhat, Jyothi Jayaraman
Follicular melanocytes originate in the neural crest and migrate to the dermis and epidermis. Recruitment of neural crest cells is regulated by microphthalmia transcription factor (Mitf) and paired box transcription factor 3 (Pax3), which stimulate enzymes related to melanin synthesis. Migration of melanoblasts is controlled by endothelin B receptor type B and c-KIT oncogene receptor. Mutation of these is responsible for leukotrichia in piebaldism [7].
Paediatric cancer
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
A specific chromosome deletion has been identified at chromosome 11p15 associated with embryonal type distinct from the other subtypes of rhabdomyosarcoma. Other associated genetic mutations include point mutations in the N-ras and K-ras oncogenes. The presence of one of the PAX3/7-FOX01 fusion genes is associated with a worse prognosis.
A case of Waardenburg syndrome type I with congenital sensorineural hearing loss
Published in Acta Oto-Laryngologica Case Reports, 2023
Quang Minh Le-Tran, Duc Phu Nguyen, Quang Huy Huynh
The patient in our study was a typical case of WS1 with four major and two minor standards according to the Waardenburg Consortium. Furthermore, the results of PAX3 mutation also increased the diagnostic accuracy of WS1. It is reported that the PAX3 mutations presented in more than 90% of patients with WS1. This high frequency of PAX3 mutation in WS1 suggests that clinical diagnosis of WS1 could be facilitated by PAX3 genetic analysis [8]. Hence, genetic testing in the diagnosis of WS is very important, especially for those with suspected WS. However, currently in Vietnam, not all patients can afford to pay for a genetic test. Therefore, it is important to think about this syndrome based on the suggested clinical presentations in order to determine early diagnosis and treatment. In fact, apart from diagnosing patient with WS1, we also advised her parents to screen some congenital defects for her brother. Fortunately, he did not have any abnormalities except for the change in his iris color.
Systemic antitumor effect by regional hyperthermia combined with low-dose chemotherapy and immunologic correlates in an adolescent patient with rhabdomyosarcoma – a case report
Published in International Journal of Hyperthermia, 2020
Rolf D. Issels, Lars H. Lindner, Michael von Bergwelt-Baildon, Peter Lang, Christoph Rischpler, Heinz Diem, Barbara Mosetter, Judith Eckl, Dolores J. Schendel, Christoph Salat, Oliver Stötzer, Stefan Burdach, Irene von Luettichau-Teichert, Rupert Handgretinger, Jens Neumann, Thomas Kirchner, Katja Steiger, Melanie Boxberg, Ulrich Mansmann, Gabriele Multhoff, Elfriede Noessner
A female adolescent received a diagnosis of disseminated rhabdomyosarcoma in August 2008 at 15 years of age. The primary tumor originated from the nasal cavity with cervical, mandibular, and axillary lymph node metastasis, including pelvic bone with bone marrow involvement. Lymph node biopsy revealed ARMS with the PAX3–FKHR-translocation. Standard vincristine, adriamycin, ifosfamide, and actinomycin D (VAIA) chemotherapy was initiated according to the high-risk arm of the CWS-IV 2002 protocol with hyper-fractioned radiotherapy of the primary tumor region and sites of lymph node involvement. Remission was consolidated by tandem high-dose thiotepa/cyclophosphamide and melphalan/etoposide chemotherapy. In May 2009, because of relapse, the patient was considered for haploidentical stem-cell transplantation (h-SCT) with her father as an HLA-A2 mismatched donor. After conditioning, she received a total of 4.90 × 106/kg CD34+ (CD3/CD19-depleted) cells. The patient developed grade 4 acute graft-versus-host disease (GvHD) but remained disease-free for 18 months thereafter. Full donor chimerism was confirmed and no fusion transcript of the PAX3/FKHR gene was detected by molecular analysis of the bone marrow aspirate.
A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma
Published in Seminars in Ophthalmology, 2019
Paula Cortes Barrantes, Frederick A. Jakobiec, Thaddeus P. Dryja
FOX01 (previously known as FKHR) is a member of the Forkhead box transcription family of genes. Members of this gene family code for transcription factors that affect embryonic development and tissue-specific gene expression in mature adult tissues.15 PAX3 and PAX7 belong to the Paired box family of proteins, and they govern the expression of the transcription factors MyoD and myogenin. PAX3 and PAX7 are expressed during early striated muscle differentiation. Studies on muscle development have shown that although required in early stages, down-regulation of PAX3 and PAX7 is necessary for the terminal differentiation of skeletal muscle cells. In vivo experimental studies have demonstrated that continuous expression of these genes prevents muscle differentiation.16 (Figure 3).