{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T10:10:09Z","timestamp":1755857409741,"version":"3.44.0"},"reference-count":5,"publisher":"SMC Media","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction: Gaucher disease (GD) is a rare inherited lysosomal storage disease characterized by multi-system impairment. One of its main features is the over-expressed chronic stimulation and activation of the immune system, which may play a crucial role in the development of some malignancies associated with GD.\u00a0 Case description: We describe a young woman diagnosed with GD type 1 in early adulthood who developed early-onset colorectal cancer shortly after GD diagnosis and the initiation of enzyme replacement therapy. She underwent radical surgical resection of the colon and adjuvant chemotherapy due to metastatic disease in the liver. She failed first-line therapy with capecitabine and is currently being treated with irinotecan plus the monoclonal antibody cetuximab.\u00a0 Discussion: Although there is no evidence of an association between GD and colorectal cancer, this presentation in a young woman without a family history or risk factors may indicate a link. During anticancer treatment, only grade 3 anaemia was documented and no other haematological toxicities were observed. Enzyme replacement therapy at the recommended dose is regularly administered at scheduled intervals. The dosage may be increased in future if necessary to alleviate profound cytopenia. Conclusion: Anticancer treatment in patients with GD can be challenging due to the accompanying cytopenia. Optimal treatment of these patients with cancer requires greater understanding of the pathophysiology of GD and its impact on haematopoiesis.\u00a0<\/jats:p>","DOI":"10.12890\/2022_003412","type":"journal-article","created":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T05:19:17Z","timestamp":1655270357000},"source":"Crossref","is-referenced-by-count":2,"title":["Early-Onset Colorectal Cancer in a Young Woman with Type 1 Gaucher Disease"],"prefix":"10.12890","volume":"9","author":[{"given":"Nevenka","family":"Ridova","sequence":"additional","affiliation":[{"name":"Clinical Center \u201cMother Teresa\u201d, University Clinic of Hematology, Skopje, Republic of North Macedonia; University Ss. Cyril and Methodius, Medical Faculty, Skopje, Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanja","family":"Trajkova","sequence":"additional","affiliation":[{"name":"Clinical Center \u201cMother Teresa\u201d, University Clinic of Hematology, Skopje, Republic of North Macedonia; University Ss. Cyril and Methodius, Medical Faculty, Skopje, Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Popova-Labachevska","sequence":"additional","affiliation":[{"name":"Clinical Center \u201cMother Teresa\u201d, University Clinic of Hematology, Skopje, Republic of North Macedonia; University Ss. Cyril and Methodius, Medical Faculty, Skopje, Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Stojanovska \u2013 Jakimovska","sequence":"additional","affiliation":[{"name":"Clinical Center \u201cMother Teresa\u201d, University Clinic of Hematology, Skopje, Republic of North Macedonia; University Ss. Cyril and Methodius, Medical Faculty, Skopje, Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filip","family":"Nikolov","sequence":"additional","affiliation":[{"name":"University Ss. Cyril and Methodius, Medical Faculty, Skopje, Republic of North Macedonia; Clinical Center \u201cMother Teresa\u201d, University Clinic of Gastroenterohepatology, Skopje, Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Panovska-Stavridis","sequence":"additional","affiliation":[{"name":"Clinical Center \u201cMother Teresa\u201d, University Clinic of Hematology, Skopje, Republic of North Macedonia; University Ss. Cyril and Methodius, Medical Faculty, Skopje, Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2022,6,15]]},"reference":[{"key":"10.12890\/2022_003412_ref1","doi-asserted-by":"crossref","unstructured":"<li>Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. <em>Int J Mol Sci<\/em> 2017;<strong>18<\/strong>(2):441. <\/li>","DOI":"10.3390\/ijms18020441"},{"key":"10.12890\/2022_003412_ref2","doi-asserted-by":"crossref","unstructured":"<li>Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. <em>Blood<\/em> 2005 Jun 15;<strong>105<\/strong>(12):4569\u20134572.<\/li>","DOI":"10.1182\/blood-2004-12-4672"},{"key":"10.12890\/2022_003412_ref3","doi-asserted-by":"crossref","unstructured":"<li>Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. <em>Cancer<\/em> 1993;<strong>72<\/strong>:219\u2013224. <\/li>","DOI":"10.1002\/1097-0142(19930701)72:1<219::AID-CNCR2820720139>3.0.CO;2-Y"},{"key":"10.12890\/2022_003412_ref4","doi-asserted-by":"crossref","unstructured":"<li>Zimran A, Liphshitz I, Barchana M, Abrahamov A, Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. <em>Blood Cells Mol Dis<\/em> 2005 May-Jun;<strong>34<\/strong>(3):197\u2013200. <\/li>","DOI":"10.1016\/j.bcmd.2005.03.004"},{"key":"10.12890\/2022_003412_ref5","doi-asserted-by":"crossref","unstructured":"<li>de Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, H\u00e4ussinger D, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. <em>Blood Cells Mol Dis<\/em> 2006 Jan-Feb;<strong>36<\/strong>(1):53\u201358. <\/li>","DOI":"10.1016\/j.bcmd.2005.08.004"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3412\/3141","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3412\/3142","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3412\/3142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T09:36:06Z","timestamp":1755855366000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/3412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,15]]},"references-count":5,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.12890\/2022_003412","relation":{"has-manifestation":[{"id-type":"other","id":"1-87-3412-g3141","asserted-by":"subject"},{"id-type":"other","id":"1-87-3412-g3142","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-87","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2022,6,15]]},"article-number":"8"}}