Hereditary pancreatitis as a cause of complications in the treatment of severe hematological malignancy

Czech version

Authors: O. Pták ¹; J. Schwarz ¹; R. Vondráková ²; J. Sýkora ¹
Authors‘ workplace: Dětská klinika LF UK a FN Plzeň ¹; Klinika zobrazovacích metod LF UK a FN Plzeň ²
Published in: Gastroent Hepatol 2025; 79(6): 446-449
Category: Pediatric Gastroenterology and Hepatology: Case report
doi: https://doi.org/10.48095/ccgh2025446

Overview

Introduction: Hereditary pancreatitis consists of severe genetically determined disorders of trypsinogen release and activation, which can either causally or as a concomitant etiological factor lead to recurrent episodes of pancreatitis, potentially resulting in the development of chronic inflammation of the pancreas. Case description: We present a case report of a 2.5-year-old patient treated for acute lymphoblastic leukemia, who developed acute recurrent pancreatitis during the intensive phase of therapy. This led to permanent structural changes in the pancreas without impairment of its exocrine or endocrine function. Acute pancreatitis can be a rare side effect of some chemotherapeutic agents. Given the atypical recurrence of attacks and their onset after the administration of chemotherapeutics, which do not typically list the development of pancreatitis among their side effects, molecular-genetic testing targeted at hereditary pancreatitis was performed, yielding a positive finding of a mutation in the SPINK1 gene. Conclusion: This case report illustrates the benefit of a targeted search for possible causes of recurrent pancreatitis, including genetic testing.

Keywords:

acute pancreatitis – hereditary pancreatitis – acute recurrent pancreatitis – SPINK1 – acute lymphoblastic leukemia – chemotherapy

Sources

1. BSPGHAN Pancreatitis Working Group. Guidelines for the diagnosis and management of acute pancreatitis in children. 2024 [online]. Dostupné z: https: //bspghan.org.uk/wp-content/uploads/2024/04/guidelines-for-the-diagnosis-and-management-of-pancreatitis-in-children.pdf.

2. Suzuki M, Sai JK, Shimizu T. Acute pancreatitis in children and adolescents. World J Gastrointest Pathophysiol 2014; 5 (4): 416–426. doi: 10.4291/wjgp.v5.i4.416.

3. Suzuki M, Minowa K, Isayama H et al. Acute recurrent and chronic pancreatitis in children. Pediatr Int 2021; 63 (2): 137–149. doi: 10.1111/ped.14415.

4. Yu B, Yu Y, Wang X et al. A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis. Pediatr Investig 2023; 7 (4): 268–276. doi: 10.1002/ped4.12404.

5. Bai HX, Lowe ME, Husain SZ. What have we learned about acute pancreatitis in children? J Pediatr Gastroenterol Nutr 2011; 52 (3): 262–270. doi: 10.1097/MPG.0b013e3182061d75.

6. Zhou H, Lu J, Wang T et al. Acute pancreatitis following asparaginase treatment in pediatric acute lymphoblastic leukemia with heterozygous SPINK1 c.194 + 2T>C intronic variant: a case report. Front Pediatr 2024; 12 : 1493362. doi: 10.3389/fped.2024.1493362.

7. Hijiya N, van der Sluis IM. Asparaginase-associated toxicity in children with acute lymphoblastic leukemia. Leuk Lymphoma 2016; 57 (4): 748–757. doi: 10.3109/10428194.2015.1101098.

8. Tang HJ, Chen CC, Hu WT et al. Effects of asparaginase-associated pancreatitis in children with haematological tumors. Front Oncol 2024; 14 : 1472049. doi: 10.3389/fonc.2024.1472049.

9. Šrámková L. Nové léčebné postupy v léčbě dětské akutní lymfoblastické leukémie. Ces Slov Pediat 2022; 77 (5): 265–271. doi: 10.55095/ CSPediatrie2022/042.

10. Raizner A, Phatak UP, Baker K et al. Acute necrotizing pancreatitis in children. J Pediatr 2013; 162 (4): 788–792. doi: 10.1016/ j.jpeds.2012.09.037.

11. Maziarczyk A, Lambach M, Kura P et al. Acute pancreatitis in children with acute lymphoblastic leukemia. Acta Haematologica Polonica 2023; 54 (5): 295–301. doi: 10.5603/ahp.95319.