Lymphoproliferative disorder – Castleman’s disease with early childhood-onset in a child (a clinical case)
DOI:
https://doi.org/10.14739/2310-1210.2022.6.257594Keywords:
Castleman’s disease, lymphoproliferative syndrome, IL-6, interferon regulatory factor, genes (IRF8), childrenAbstract
Castleman’s disease (angiofollicular lymphoma, giant lymph node hyperplasia, Castleman’s pseudotumor) is an understudied orphan lymphoproliferative disease with a long period of asymptomatic course and a high risk of malignancy, and variability of its clinical features can cause difficulties in diagnosis.
The aim of the study. To acquaint clinicians and increase the effectiveness of early diagnosis and treatment of Castleman’s disease (CD) in children to prevent malignancy and improve prognosis.
Results. The article presents a clinical case of CD in a 3.5-year-old boy with a long history of fever, stunted growth, sweating, arthralgia, anemia, high laboratory inflammatory factors, elevated IL-6. There was a complex diagnostic search except for infectious, immunodeficiency, autoimmune conditions. The diagnosis of hyaline-vascular type of CD was confirmed by immunohistochemical examination after lymph node excisional biopsy. Rapid positive dynamics was noted after radical removal of the lymph node conglomerate. At follow-up after 8 months, the patient met criteria for clinical and laboratory remission.
Conclusions. Castleman’s disease should be included in the search algorithm for lymphoproliferative diseases. Determining the role of genetic mutations in interferon regulatory factor (IRF8) is of scientific interest to clarify the etiology of this disease.
References
- Wall, D. A. (2019). Lymphoproliferative Disorders: Background, Pathophysiology, Epidemiology. Medscape.com. https://emedicine.medscape.com/article/987765-overview
- Vyhovska Ya. I., Yevstakhevych I. Y., Maslyak Z. V., Semerak M. M., Yevstakhevych Yu. L., Knysh N. V., & Tkhir Kh. R. (2021). Klinichnyi vypadok khvoroby Kastlemana z urazhenniam pechinky ta selezinky [Clinical case of Castleman's disease with liver and spleen]. Ukrainskyi pulmonolohichnyi zhurnal, (5), 67-69. [in Ukrainian]. https://doi.org/10.32471/umj.1680-3051.145.216638
- Opanasenko, N. S., Konik, B. N., Liskina, I. V., Tereshkovуch, A. V., Levanda, L. I., Zagaba L. M., & Shamray, M. Y. (2020). Klinichnyi vypadok khvoroby Kastlemana Castleman`s disease: the clinical case [Clinical case of Castleman's disease]. Ukrainskyi pulmonolohichnyi zhurnal, (3), 63-67. [in Ukrainian]. https://doi.org/10.31215/2306-4927-2020-109-3-63-67
- Farruggia, P., Trizzino, A., Scibetta, N., Cecchetto, G., Guerrieri, P., D’Amore, E. S., & D'Angelo, P. (2011). Castleman’s disease in childhood: report of three cases and review of the literature. Italian journal of pediatrics, 37, 50. https://doi.org/10.1186/1824-7288-37-50
- Ashjaei, B., Ghamari Khameneh, A., & Darban Hosseini Amirkhiz, G. (2020). Abdominal Mass Caused Failure to Thrive in a Young Boy: Mixed-Type Localized Retroperitoneal Castleman Disease. Case reports in oncology, 13(2), 853–856. https://doi.org/10.1159/000508531
- Wojtyś, M., Piekarska, A., Kunc, M., Ptaszyński, K., Biernat, W., Zaucha, J. M., Waloszczyk, P., Lisowski, P., Kubisa, B., & Grodzki, T. (2019). Clinicopathological comparison and therapeutic approach to Castleman disease-a case-based review. Journal of thoracic disease, 11(11), 4859–4874. https://doi.org/10.21037/jtd.2019.10.73
- Van Rhee, F., Oksenhendler, E., Srkalovic, G., Voorhees, P., Lim, M., Dispenzieri, A., Ide, M., Parente, S., Schey, S., Streetly, M., Wong, R., Wu, D., Maillard, I., Brandstadter, J., Munshi, N., Bowne, W., Elenitoba-Johnson, K. S., Fössa, A., Lechowicz, M. J., Chandrakasan, S., … Fajgenbaum, D. C. (2020). International evidence-based consensus diagnostic and treatment guidelines for unicentric Castleman disease. Blood advances, 4(23), 6039–6050. https://doi.org/10.1182/bloodadvances.2020003334
- Butzmann, A., Kumar, J., Sridhar, K., Gollapudi, S., & Ohgami, R. S. (2021). A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease. Biology, 10(4), 251. https://doi.org/10.3390/biology10040251
- Borocco, C., Ballot-Schmit, C., Ackermann, O. et al. (2020). The French paediatric cohort of Castleman disease: a retrospective report of 23 patients. Orphanet J Rare Dis 15, 95 https://doi.org/10.1186/s13023-020-1345-5
- Smith, C., Lee-Miller, C., Dishop, M. K., Cost, C., Wang, M., & Asturias, E. J. (2014). Multicentric Castleman disease presenting with fever. The Journal of pediatrics, 165(6), 1261–1265. https://doi.org/10.1016/j.jpeds.2014.08.042
- Nagy, A., Bhaduri, A., Shahmarvand, N., Shahryari, J., Zehnder, J. L., Warnke, R. A., Mughal, T., Ali, S., & Ohgami, R. S. (2018). Next-generation sequencing of idiopathic multicentric and unicentric Castleman disease and follicular dendritic cell sarcomas. Blood advances, 2(5), 481–491. https://doi.org/10.1182/bloodadvances.2017009654
- Li, Z., Lan, X., Li, C., Zhang, Y., Wang, Y., Xue, W., Lu, L., Jin, M., Zhou, Z., Wang, X., Li, L., Zhang, L., Li, X., Fu, X., Sun, Z., Wu, J., Zhang, X., Yu, H., Nan, F., Chang, Y., … Zhang, M. (2019). Recurrent PDGFRB mutations in unicentric Castleman disease. Leukemia, 33(4), 1035–1038. https://doi.org/10.1038/s41375-018-0323-6
- Endo, Y., Koga, T., Otaki, H., Sasaki, D., Sumiyoshi, R., Furukawa, K., Tanaka, Y., Katsunori, Y., & Kawakami, A. (2021). Idiopathic multicentric Castleman disease with novel heterozygous Ile729Met mutation in exon 10 of familial Mediterranean fever gene. Rheumatology (Oxford, England), 60(1), 445–450. https://doi.org/10.1093/rheumatology/keaa269
- Van Nieuwenhove, E., Humblet-Baron, S., Van Eyck, L., De Somer, L., Dooley, J., Tousseyn, T., Hershfield, M., Liston, A., & Wouters, C. (2018). ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. Pediatrics, 142(3), e20172266. https://doi.org/10.1542/peds.2017-2266
- Hambleton, S., Salem, S., Bustamante, J., Bigley, V., Boisson-Dupuis, S., Azevedo, J., Fortin, A., Haniffa, M., Ceron-Gutierrez, L., Bacon, C. M., Menon, G., Trouillet, C., McDonald, D., Carey, P., Ginhoux, F., Alsina, L., Zumwalt, T. J., Kong, X. F., Kumararatne, D., Butler, K., … Gros, P. (2011). IRF8 mutations and human dendritic-cell immunodeficiency. The New England journal of medicine, 365(2), 127–138. https://doi.org/10.1056/NEJMoa1100066
- McQuaid, D. C., Panse, G., Wang, W.-L., Pinkus, G. S., Katz, S. G., & Xu, M. L. (2022). Global assessment of IRF8 as a novel cancer biomarker. Human Pathology, 122, 1–10. https://doi.org/10.1016/j.humpath.2022.01.004
- Rabinowitz, M. R., Levi, J., Conard, K., & Shah, U. K. (2013). Castleman disease in the pediatric neck: a literature review. Otolaryngology--head and neck surgery, 148(6), 1028-1036. https://doi.org/10.1177/0194599813479931
- Pierson, S. K., Khor, J. S., Ziglar, J., Liu, A., Floess, K., NaPier, E., Gorzewski, A. M., Tamakloe, M. A., Powers, V., Akhter, F., Haljasmaa, E., Jayanthan, R., Rubenstein, A., Repasky, M., Elenitoba-Johnson, K., Ruth, J., Jacobs, B., Streetly, M., Angenendt, L., Patier, J. L., … Fajgenbaum, D. C. (2020). ACCELERATE: A Patient-Powered Natural History Study Design Enabling Clinical and Therapeutic Discoveries in a Rare Disorder. Cell reports. Medicine, 1(9), 100158. https://doi.org/10.1016/j.xcrm.2020.100158
- Van Rhee, F., Voorhees, P., Dispenzieri, A., Fosså, A., Srkalovic, G., Ide, M., Munshi, N., Schey, S., Streetly, M., Pierson, S. K., Partridge, H. L., Mukherjee, S., Shilling, D., Stone, K., Greenway, A., Ruth, J., Lechowicz, M. J., Chandrakasan, S., Jayanthan, R., Jaffe, E. S., … Fajgenbaum, D. C. (2018). International, evidence-based consensus treatment guidelines for idiopathic multicentric Castleman disease. Blood, 132(20), 2115-2124. https://doi.org/10.1182/blood-2018-07-862334
- Petty, R. E., Southwood, T. R., Manners, P., Baum, J., Glass, D. N., Goldenberg, J., He, X., Maldonado-Cocco, J., Orozco-Alcala, J., Prieur, A. M., Suarez-Almazor, M. E., Woo, P., & International League of Associations for Rheumatology (2004). International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. The Journal of rheumatology, 31(2), 390–392.
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