Fanconi anemia revealed by severe aplastic anemia complicated with disseminated Kaposi’s sarcoma and stage IV B-cell lymphoma: a first reported case

Fanconi anemia revealed by severe aplastic anemia complicated with disseminated Kaposi’s sarcoma and stage IV B-cell lymphoma: a first reported case | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Fanconi anemia revealed by severe aplastic anemia complicated with disseminated Kaposi’s sarcoma and stage IV B-cell lymphoma: a first reported case Ghada Marzougui, Roua Elmahjoub, Abdennour Nasri, Noureddine Rekik This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8192715/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by defective DNA repair, progressive aplastic anemia, and increased susceptibility to malignancies. While hematologic cancers are known complications, the simultaneous occurrence of FA, Kaposi’s sarcoma (KS), and stage IV B-cell lymphoma in an HIV-negative adult has not been reported. Case presentation: A 25-year-old Tunisian man with no significant family history presented to the emergency department on 14/02/2025 with asthenia, pallor, and fever. Bone marrow aspiration on 17/03/2025 confirmed severe aplastic anemia. Viral serologies, including HIV, were negative. Due to financial constraints and residence-related barriers, follow-up was interrupted, and transfusions were given only in the emergency department. On 04/08/2025, he presented with violaceous plantar lesions, and biopsy confirmed Kaposi’s sarcoma. Laboratory tests showed profound pancytopenia (Hb 7.4 g/dL, ANC 100/mm³, platelets 2,000/mm³). PET scan (16/07/2025) demonstrated disseminated stage IV B-cell lymphoma involving bones and the CNS. HLA typing of his sister on 13/03/2025 identified a matched donor; however, both allogeneic stem cell transplantation and curative chemotherapy were contraindicated due to severe marrow failure, disseminated malignancy, and ongoing infection. He received palliative transfusions, antibiotics (well tolerated), and decompressive radiotherapy (15/09/2025) for spinal and facial lesions. He died on 24/09/2025. Conclusion: This case represents the first reported association of FA with severe aplastic anemia, disseminated Kaposi’s sarcoma, and stage IV B-cell lymphoma in an HIV-negative adult. It illustrates the devastating consequences of overlapping constitutional and acquired immunodeficiency and highlights the diagnostic and therapeutic challenges in resource-limited settings. Early recognition of FA and vigilant monitoring for malignancies are essential to optimize patient management. Critical Care & Emergency Medicine Hematology Fanconi Anemia Kaposi's sarcoma Case Report Severe aplastic anemia Full Text Additional Declarations The authors declare no competing interests. Supplementary Files Checklist.pdf Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-8192715","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":549860871,"identity":"5ba7b274-7564-4fdc-8bfa-29ae46f1a967","order_by":0,"name":"Ghada Marzougui","email":"data:image/png;base64,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","orcid":"","institution":"Hbib bourgiba hospital sfax","correspondingAuthor":true,"prefix":"","firstName":"Ghada","middleName":"","lastName":"Marzougui","suffix":""},{"id":549861637,"identity":"4fa5a26d-8349-404c-8446-15b46a2c5ac7","order_by":1,"name":"Roua Elmahjoub","email":"","orcid":"","institution":"Hbib bourgiba hospital sfax","correspondingAuthor":false,"prefix":"","firstName":"Roua","middleName":"","lastName":"Elmahjoub","suffix":""},{"id":549861638,"identity":"35186e31-2b2f-4286-bc3f-225e5051197f","order_by":2,"name":"Abdennour Nasri","email":"","orcid":"","institution":"Hbib bourgiba hospital sfax","correspondingAuthor":false,"prefix":"","firstName":"Abdennour","middleName":"","lastName":"Nasri","suffix":""},{"id":549861639,"identity":"6328b4ea-8edc-46de-9936-11e492f4a990","order_by":3,"name":"Noureddine Rekik","email":"","orcid":"","institution":"Hbib bourgiba hospital sfax","correspondingAuthor":false,"prefix":"","firstName":"Noureddine","middleName":"","lastName":"Rekik","suffix":""}],"badges":[],"createdAt":"2025-11-24 11:13:10","currentVersionCode":1,"declarations":{"humanSubjects":false,"vertebrateSubjects":false,"conflictsOfInterestStatement":false,"humanSubjectEthicalGuidelines":false,"humanSubjectConsent":false,"humanSubjectClinicalTrial":false,"humanSubjectCaseReport":false,"vertebrateSubjectEthicalGuidelines":false},"doi":"10.21203/rs.3.rs-8192715/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-8192715/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":96710714,"identity":"708f574b-07a2-4dc6-b28e-6613e16afb4a","added_by":"auto","created_at":"2025-11-25 10:11:07","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":485275,"visible":true,"origin":"","legend":"","description":"","filename":"JMCRD2504167.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8192715/v1_covered_5c8cae16-f13f-4d90-baa0-3f3e5d7b72bd.pdf"},{"id":96701620,"identity":"77f4e66a-835e-453a-a0eb-603b280577f9","added_by":"auto","created_at":"2025-11-25 08:35:03","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":312801,"visible":true,"origin":"","legend":"","description":"","filename":"Checklist.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8192715/v1/414a8f78d29af1f85fba4117.pdf"}],"financialInterests":"The authors declare no competing interests.","formattedTitle":"\u003cp\u003eFanconi anemia revealed by severe aplastic anemia complicated with disseminated Kaposi’s sarcoma and stage IV B-cell lymphoma: a first reported case\u003c/p\u003e","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"Hopital Universitaire Habib Bourguiba","isAcceptedByJournal":false,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Fanconi Anemia, Kaposi's sarcoma, Case Report, Severe aplastic anemia ","lastPublishedDoi":"10.21203/rs.3.rs-8192715/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8192715/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eBackground: Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by defective DNA repair, progressive aplastic anemia, and increased susceptibility to malignancies. While hematologic cancers are known complications, the simultaneous occurrence of FA, Kaposi’s sarcoma (KS), and stage IV B-cell lymphoma in an HIV-negative adult has not been reported.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eCase presentation: A 25-year-old Tunisian man with no significant family history presented to the emergency department on 14/02/2025 with asthenia, pallor, and fever. Bone marrow aspiration on 17/03/2025 confirmed severe aplastic anemia. Viral serologies, including HIV, were negative. Due to financial constraints and residence-related barriers, follow-up was interrupted, and transfusions were given only in the emergency department. On 04/08/2025, he presented with violaceous plantar lesions, and biopsy confirmed Kaposi’s sarcoma. Laboratory tests showed profound pancytopenia (Hb 7.4 g/dL, ANC 100/mm³, platelets 2,000/mm³). PET scan (16/07/2025) demonstrated disseminated stage IV B-cell lymphoma involving bones and the CNS. HLA typing of his sister on 13/03/2025 identified a matched donor; however, both allogeneic stem cell transplantation and curative chemotherapy were contraindicated due to severe marrow failure, disseminated malignancy, and ongoing infection. He received palliative transfusions, antibiotics (well tolerated), and decompressive radiotherapy (15/09/2025) for spinal and facial lesions. He died on 24/09/2025.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eConclusion: This case represents the first reported association of FA with severe aplastic anemia, disseminated Kaposi’s sarcoma, and stage IV B-cell lymphoma in an HIV-negative adult. It illustrates the devastating consequences of overlapping constitutional and acquired immunodeficiency and highlights the diagnostic and therapeutic challenges in resource-limited settings. Early recognition of FA and vigilant monitoring for malignancies are essential to optimize patient management.\u003c/p\u003e","manuscriptTitle":"Fanconi anemia revealed by severe aplastic anemia complicated with disseminated Kaposi’s sarcoma and stage IV B-cell lymphoma: a first reported case","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-11-25 08:34:59","doi":"10.21203/rs.3.rs-8192715/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"8fe2e5be-883f-4651-9250-c77b4a9e1608","owner":[],"postedDate":"November 25th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":58564295,"name":"Critical Care \u0026 Emergency Medicine"},{"id":58564296,"name":"Hematology"}],"tags":[],"updatedAt":"2025-11-25T08:34:59+00:00","versionOfRecord":[],"versionCreatedAt":"2025-11-25 08:34:59","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8192715","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8192715","identity":"rs-8192715","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}