Wysocki MT, Gonciarz M, Puła B. Treatment refractory mast cell leukemia with dominant gastrointestinal manifestation and concomitant skin symptoms: A case report. World J Clin Cases 2024; 12(20): 4317-4324 [PMID: 39015933 DOI: 10.12998/wjcc.v12.i20.4317]
Corresponding Author of This Article
Maciej Tomasz Wysocki, Department of Gastroenterology and Internal Medicine, Military Institute of Medicine-National Research Institute, 128 Szaserow Street, Warsaw 04-141, Poland. maciejtwysocki@gmail.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jul 16, 2024; 12(20): 4317-4324 Published online Jul 16, 2024. doi: 10.12998/wjcc.v12.i20.4317
Treatment refractory mast cell leukemia with dominant gastrointestinal manifestation and concomitant skin symptoms: A case report
Maciej Tomasz Wysocki, Maciej Gonciarz, Bartosz Puła
Maciej Tomasz Wysocki, Maciej Gonciarz, Department of Gastroenterology and Internal Medicine, Military Institute of Medicine-National Research Institute, Warsaw 04-141, Poland
Bartosz Puła, Department of Hematology, Institute of Hematology and Transfusion Medicine, Warsaw 02-776, Poland
Author contributions: Wysocki MT and Gonciarz M contributed to manuscript writing, editing, and data collection; Puła B contributed to manuscript writing, conceptualization and supervision; all authors have read and approved the final manuscript.
Informed consent statement: Informed consent was obtained from the Patient’s relatives for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Maciej Tomasz Wysocki, Department of Gastroenterology and Internal Medicine, Military Institute of Medicine-National Research Institute, 128 Szaserow Street, Warsaw 04-141, Poland. maciejtwysocki@gmail.com
Received: January 28, 2024 Revised: April 29, 2024 Accepted: May 22, 2024 Published online: July 16, 2024 Processing time: 154 Days and 17.4 Hours
Abstract
BACKGROUND
Mast cell leukemia (MCL), a subtype of systemic mastocytosis (SM), is an extremely rare clinical entity characterized by a very poor prognosis. Chemotherapy, tyrosine kinase inhibitors, and allogeneic hematopoietic cell transplantation are the only treatment options, but they cannot provide the desired outcomes in most cases of MCL. However, other types of SM can be successfully treated. The disease has no specific manifestation, but gastroenterological symptoms are present in most cases.
CASE SUMMARY
The authors, hereby, report a case of a 46-year-old female patient diagnosed with MCL-the rarest subtype of SM. The patient presented to the gastroenterology clinic with multiple, various, and unspecific gastroenterological symptoms. Concomitance of skin lesions significantly contributed to a relatively prompt diagnosis. The serum tryptase level was extremely high and bone the marrow aspirate showed an infiltration of atypical mast cells. The disease was rapidly progressive and primary refractory to chemotherapy and the patient succumbed to the illness about a month after the initiation of treatment.
CONCLUSION
Despite its “hematological nature”, MCL, in most cases presents dominantly with unspecific gastroenterological symptoms. Thus, a high disease awareness among physicians other than hematologists is necessary to improve treatment outcomes. Serum tryptase level, due to its non-invasive nature and easy access, may serve as an initial step to estimate the probability of mastocytosis.
Core Tip: Mastocytosis is a group of neoplastic diseases characterized by excessive proliferation and infiltration of pathologic mastocytes into many organs in the human body. The clinical course of the illness may vary from indolent types, with average life expectancy, to advanced severe forms associated with poor prognosis. A disease may present with plenty of unspecific symptoms resulting in a long-lasting diagnostic process. We report a rare case of mast cell leukemia (MCL) in a 46-year-old female with weakness, unintentional weight loss, spine pain, vomiting, diarrhea, and epigastric pain occurring within several months before hospitalization. Although MCL is still associated with a high morbidity index, other less aggressive forms of systemic mastocytosis may be successfully treated with chemotherapy.
