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].
The skin
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Piebaldism commonly follows autosomal dominant inheritance and has been shown to result from specific mutations in the c-KIT oncogene. It may form part of the more generalised Waardenburg syndrome, which is also autosomal dominant in inheritance and determined by the developmental gene PAX3. Isolated white forelock may also occur as a dominantly inherited trait.
FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients
Published in Fetal and Pediatric Pathology, 2023
ARMS is an aggressive pediatric malignancy of striated muscle characterized in 60% of cases by FOXO1::PAX3 fusion transcript [1,25]. Human Forkhead-box (FOX) gene family consists of at least 43 members [25]. Several pathogenesis and tumorigenesis were attributed to the deregulation of FOX family genes. FOXA1 gene is amplified and overexpressed in esophageal and lung cancer [25]. The upregulation of FOXM1 gene in pancreatic carcinoma was reported to the transcriptional regulation by Sonic Hedgehog pathway [26,27]. FOXO1 gene is fused to PAX3 or PAX7 genes in rhabdomyosarcoma. ARMS cases show whole-chromosome copy number changes, notably gain of chromosome 8 with associated high levels of expression of genes from this chromosome [16,28].
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
Alveolar rhabdomyosarcoma (ARMS) with PAX3–FKHR translocation is an aggressive subtype of rhabdomyosarcoma in childhood with dismal prognosis [1]. Regional hyperthermia is a noninvasive cancer treatment targeting heat (range 41–43 °C) to the region of the localized tumor without an increase of the systemic body temperature. In a randomized phase III trial comparing regional hyperthermia combined with chemotherapy to chemotherapy alone, the addition of heat improved local tumor control in patients with high-risk soft tissue sarcoma [2]. After long-term follow-up, survival was improved also in the subgroup of patients with extremity tumors who usually die of metastases, suggesting immune effects outside of the heated target [3]. Cell stress provides critical cues for activating and targeting the immune system to recognize cancer cells [4]. Up-regulation of the MHC class I chain-related protein family (MICA, MICB) and induction of heat shock protein 70 (HSP70) by heat-stress have been identified as triggers to activate innate immunity and to bridge toward adaptive immunity [5]. NK cells as well as cytotoxic CD8+ and subsets of CD4+ T cells express the lectin-like natural-killer group 2 D (NKG2D) activating receptor and thereby can receive co-stimulation through stress-induced NKG2D ligands, like MICA/B and HSP70, and thereby support their capacity to kill tumor cells [6]. Furthermore, NK cells recognize and target cells with an incomplete or incompatible expression of MHC class I molecules (KIR-ligand mismatch) [7].
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome
Published in Acta Oto-Laryngologica, 2019
Jing Guan, Linwei Yin, Hongyang Wang, Guohui Chen, Cui Zhao, Dayong Wang, Qiu-Ju Wang
The etiological and phenotypical heterogeneity of syndromic hearing loss poses a significant challenge to the diagnosis and genetic counseling of hearing-impaired patients and their families [7,8]. Here we have identified a 5.175-Mb de novo interstitial 2q36.1q36.3 deletion in a boy affected by a severe form of syndromic bilateral sensorineural deafness with BD family history. The deletion has been confirmed by SNP array, includes 14 genes reported in OMIM. The genes of PAX3 [9], EPHA4 among the deleted segment were reported dosage pathogenicity. PAX3 gene is responsible for the Waardenburg syndrome and EPHA4 may be a short stature gene [10–12]. In addition to the two genes, the rest of the genes in the interval are unknown to be associated with the characteristics of our patient. Establishing the etiological diagnosis for the boy, he had been referred on suspicion of having the Waardenburg Syndrome (WS, MIM #193500, #148820) or the Craniofacial-deafness-hand syndrome (CDHS, MIM #122880) or the phenotype of short stature resembling the reported case by Chuan Li et al. [11,13].