Case Report
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Year 2023, Volume: 13 Issue: 2, 441 - 443, 15.06.2023

Nurhilal Buyukkurt Funda Pepedil Tanrikulu

https://doi.org/10.33808/clinexphealthsci.855710

Abstract

References

  • Klion AD. How I treat hypereosinophilic syndromes. Blood. 2015 Aug 27;126(9):1069-1077.
  • Jovanovic JV, Score J, Waghorn K, Cilloni D, Gottardi E, Metzgeroth G, Erben P, Popp H, Walz C, Hochhaus A, Roche-Lestienne C, Preudhomme C, Apperley J, Rondoni M, Ottaviani E, Martinelli G, Finella Brito-Babapulle, Saglio G, Hehlmann R, C P Cross N, Reiter A, Grimwade D. Low-dose imatinib mesylate leads to rapid inductionof major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Blood. 2007;109:4635–4640.
  • Pardanani A, Brockman SR, Paternoster SF, Flynn HC, Ketterling, Lasho TL, Ho C-L, Li C-Y, Dewald GW, Tefferi A. FIP1L1-PDGFRA fusion: Prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood. 2004;104:3038–3045.
  • Pardanani A, Ketterling RP, Li CY, Patnaik M M, Wolanskyj AP, Elliott MA, Camoriano JK, Butterfield JH, Dewald GW, Tefferi A. FIP1L1-PDGFRA in eosinophilic disorders:Prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature. Leuk Res. 2006;30:965–970.
  • Brigden M, Graydon C. Eosinophilia detected by automated blood cell counting in ambulatory North American outpatients. Incidence and clin-ical significance. Arch Pathol Lab Med. 1997;121:963-967.
  • Rothenberg ME. Eosinophilia. N Engl J Med. 1998;338:1592–1600.
  • Pardanani A, Patnaik MM, Tefferi A. Eosino-philia: Secondary, clonal and idiopathic. Br JHaematol. 2006;133:468-492.
  • Gotlib J. World Health Organization-defined eosinophilic disorders: 2014 update on diagnosis, risk stratification, and management. Am J Hematol. 2012;87(9):903-914.
  • Fauci AS, Harley JB, Roberts WC, Ferrans VJ, Gralnick HR, Bjornson BH. The idiopathic hypereosinophilic syndrome. Clinical, pathophysiologic, and therapeutic considerations. Ann Intern Med. 1982;97:78-92.
  • Ogbogu PU, Bochner BS, Butterfield JH, Gleich GJ, Huss-Marp J, Kahn JE, Leiferman KM, Nutman TB, Pfab F, Ring J, Rothenberg ME, Roufosse F, Sajous MH, Sheikh J, Simon D, Simon HU, Stein ML, Wardlaw A, Weller PF, Klion AD. Hypereosinophilic syndromes: A multicenter, retrospective analysis of clinical characteristics and response to therapy. J Allergy Clin Immunol. 2009;124:1319-1325.
  • Lefebvre C, Bletry O, Degoulet P, Guillevin L, Bentata-Pessayre M, Huong D u Le Thi, P Godeau P. Prognostic factors of hypereosinophilic syndrome. Study of 40 cases. Ann Med Interne. 1989;140:253-257.
  • Flaum MA, Schooley RT, Fauci AS, Gralnick H R. A clinicopathologic correlation of the idiopathic hypereosinophilic syndrome. Blood. 1981;58:1012-1020.
  • Gotlib J, Cools J, Malone JM, Schrier S L, Gilliland D G, Coutré S E. The FIP1L1-PDGFRa fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: Implications for diagnosis, classification, and management. Blood. 2004;103:2879-2891.
  • Cool J, DeAngelo DJ, Gotlib J, Stower EH, Legare RD, Stover E H, Legare R D, Cortes J, Kutok J, Clark J, Galinsky I, Griffin J D, Cross N C P, Tefferi A, Malone J, Alam R, Schrier S L, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre S E, Stone R, Gilliland D G. A tyrosine kinase created by fusion of the PDGFRA and FIB1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N. Engl J Med. 2003;348:1201-1214.
  • La Starza L, Specchia G, Cuneo A, Beacci D, Nozzoli C, Luciano L, Aventin A, Sambani C, Testoni N, Foppoli M, Invernizzi R, Marynen P, Martelli M F, Mecucci C. The hypereosinophilic syndrome: Fluorescence in situ hybridization detects the del (4) (q12)- FIB1L1/PDGFRA but not genomic rearrangements of other tyrosine kinases. Haematologica. 2005;90(5):596-601.

Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12)

Year 2023, Volume: 13 Issue: 2, 441 - 443, 15.06.2023

Nurhilal Buyukkurt Funda Pepedil Tanrikulu

https://doi.org/10.33808/clinexphealthsci.855710

Abstract

The hypereosinophilic syndrome (HES) is a group of rare disorders characterized by persistently high peripheral blood eosinophiles (≥ 1.5x109/L), and related signs or symptoms of organ involvement without secondary causes. Eosinophilia with recurrent genetic abnormalities (PDGFRA/B, FGFR1) comprises a minority of these patients. In this report, we aimed to point out a case with 4q12 deletion whose diagnosis and treatment were delayed for quite a while. The patient was followed for bronchial asthma for a long time and the recognition of hypereosinophilia yielded a suspicion for HES / Chronic eosinophilic leukemia (CEL). During the initial part of his diagnostic evaluation, there was an unawareness of the cryptic deletion which was a target for tyrosine kinases. The symptoms resolved and complete cytogenetic response was achieved with 100 mg imatinib continuing for 57 months.

Keywords

Hypereosinophilic syndrome, del (4) (q12), tyrosine kinase inhibitors

References

  • Klion AD. How I treat hypereosinophilic syndromes. Blood. 2015 Aug 27;126(9):1069-1077.
  • Jovanovic JV, Score J, Waghorn K, Cilloni D, Gottardi E, Metzgeroth G, Erben P, Popp H, Walz C, Hochhaus A, Roche-Lestienne C, Preudhomme C, Apperley J, Rondoni M, Ottaviani E, Martinelli G, Finella Brito-Babapulle, Saglio G, Hehlmann R, C P Cross N, Reiter A, Grimwade D. Low-dose imatinib mesylate leads to rapid inductionof major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Blood. 2007;109:4635–4640.
  • Pardanani A, Brockman SR, Paternoster SF, Flynn HC, Ketterling, Lasho TL, Ho C-L, Li C-Y, Dewald GW, Tefferi A. FIP1L1-PDGFRA fusion: Prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood. 2004;104:3038–3045.
  • Pardanani A, Ketterling RP, Li CY, Patnaik M M, Wolanskyj AP, Elliott MA, Camoriano JK, Butterfield JH, Dewald GW, Tefferi A. FIP1L1-PDGFRA in eosinophilic disorders:Prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature. Leuk Res. 2006;30:965–970.
  • Brigden M, Graydon C. Eosinophilia detected by automated blood cell counting in ambulatory North American outpatients. Incidence and clin-ical significance. Arch Pathol Lab Med. 1997;121:963-967.
  • Rothenberg ME. Eosinophilia. N Engl J Med. 1998;338:1592–1600.
  • Pardanani A, Patnaik MM, Tefferi A. Eosino-philia: Secondary, clonal and idiopathic. Br JHaematol. 2006;133:468-492.
  • Gotlib J. World Health Organization-defined eosinophilic disorders: 2014 update on diagnosis, risk stratification, and management. Am J Hematol. 2012;87(9):903-914.
  • Fauci AS, Harley JB, Roberts WC, Ferrans VJ, Gralnick HR, Bjornson BH. The idiopathic hypereosinophilic syndrome. Clinical, pathophysiologic, and therapeutic considerations. Ann Intern Med. 1982;97:78-92.
  • Ogbogu PU, Bochner BS, Butterfield JH, Gleich GJ, Huss-Marp J, Kahn JE, Leiferman KM, Nutman TB, Pfab F, Ring J, Rothenberg ME, Roufosse F, Sajous MH, Sheikh J, Simon D, Simon HU, Stein ML, Wardlaw A, Weller PF, Klion AD. Hypereosinophilic syndromes: A multicenter, retrospective analysis of clinical characteristics and response to therapy. J Allergy Clin Immunol. 2009;124:1319-1325.
  • Lefebvre C, Bletry O, Degoulet P, Guillevin L, Bentata-Pessayre M, Huong D u Le Thi, P Godeau P. Prognostic factors of hypereosinophilic syndrome. Study of 40 cases. Ann Med Interne. 1989;140:253-257.
  • Flaum MA, Schooley RT, Fauci AS, Gralnick H R. A clinicopathologic correlation of the idiopathic hypereosinophilic syndrome. Blood. 1981;58:1012-1020.
  • Gotlib J, Cools J, Malone JM, Schrier S L, Gilliland D G, Coutré S E. The FIP1L1-PDGFRa fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: Implications for diagnosis, classification, and management. Blood. 2004;103:2879-2891.
  • Cool J, DeAngelo DJ, Gotlib J, Stower EH, Legare RD, Stover E H, Legare R D, Cortes J, Kutok J, Clark J, Galinsky I, Griffin J D, Cross N C P, Tefferi A, Malone J, Alam R, Schrier S L, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre S E, Stone R, Gilliland D G. A tyrosine kinase created by fusion of the PDGFRA and FIB1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N. Engl J Med. 2003;348:1201-1214.
  • La Starza L, Specchia G, Cuneo A, Beacci D, Nozzoli C, Luciano L, Aventin A, Sambani C, Testoni N, Foppoli M, Invernizzi R, Marynen P, Martelli M F, Mecucci C. The hypereosinophilic syndrome: Fluorescence in situ hybridization detects the del (4) (q12)- FIB1L1/PDGFRA but not genomic rearrangements of other tyrosine kinases. Haematologica. 2005;90(5):596-601.
There are 15 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Nurhilal Buyukkurt 0000-0002-0895-4787

Funda Pepedil Tanrikulu 0000-0003-1878-1872

Publication Date June 15, 2023
Submission Date January 7, 2021
Published in Issue Year 2023 Volume: 13 Issue: 2

Cite

APA Buyukkurt, N., & Pepedil Tanrikulu, F. (2023). Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12). Clinical and Experimental Health Sciences, 13(2), 441-443. https://doi.org/10.33808/clinexphealthsci.855710
AMA Buyukkurt N, Pepedil Tanrikulu F. Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12). Clinical and Experimental Health Sciences. June 2023;13(2):441-443. doi:10.33808/clinexphealthsci.855710
Chicago Buyukkurt, Nurhilal, and Funda Pepedil Tanrikulu. “Search, Look, and See; Late Recognised Hypereosinophilic Syndrome With Deletion (4) (q12)”. Clinical and Experimental Health Sciences 13, no. 2 (June 2023): 441-43. https://doi.org/10.33808/clinexphealthsci.855710.
EndNote Buyukkurt N, Pepedil Tanrikulu F (June 1, 2023) Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12). Clinical and Experimental Health Sciences 13 2 441–443.
IEEE N. Buyukkurt and F. Pepedil Tanrikulu, “Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12)”, Clinical and Experimental Health Sciences, vol. 13, no. 2, pp. 441–443, 2023, doi: 10.33808/clinexphealthsci.855710.
ISNAD Buyukkurt, Nurhilal - Pepedil Tanrikulu, Funda. “Search, Look, and See; Late Recognised Hypereosinophilic Syndrome With Deletion (4) (q12)”. Clinical and Experimental Health Sciences 13/2 (June 2023), 441-443. https://doi.org/10.33808/clinexphealthsci.855710.
JAMA Buyukkurt N, Pepedil Tanrikulu F. Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12). Clinical and Experimental Health Sciences. 2023;13:441–443.
MLA Buyukkurt, Nurhilal and Funda Pepedil Tanrikulu. “Search, Look, and See; Late Recognised Hypereosinophilic Syndrome With Deletion (4) (q12)”. Clinical and Experimental Health Sciences, vol. 13, no. 2, 2023, pp. 441-3, doi:10.33808/clinexphealthsci.855710.
Vancouver Buyukkurt N, Pepedil Tanrikulu F. Search, Look, and See; Late Recognised Hypereosinophilic Syndrome with Deletion (4) (q12). Clinical and Experimental Health Sciences. 2023;13(2):441-3.
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