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KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia

2018-02-28Journal article Open access
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dc.contributor.authorLopes, M.
dc.contributor.authorTeixeira, M.
dc.contributor.authorCasais, C.
dc.contributor.authorMesquita, V.
dc.contributor.authorSeabra, P.
dc.contributor.authorCabral, R.
dc.contributor.authorPalla-Garcia, J.
dc.contributor.authorLau, C.
dc.contributor.authorRodrigues, J.
dc.contributor.authorJara-Acevedo, M.
dc.contributor.authorFreitas, I.
dc.contributor.authorVizcaíno, J.
dc.contributor.authorCoutinho, J.
dc.contributor.authorEscribano, L.
dc.contributor.authorOrfao, A.
dc.contributor.authorLima, M.
dc.date.accessioned2019-07-18T15:05:34Z
dc.date.available2019-07-18T15:05:34Z
dc.date.issued2018-02-28
dc.description.abstractIntroduction: Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML). Case Report: A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184 μg/L). The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2-CD25+ MC. The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT). The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT. Conclusions: This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCase Rep Hematol. 2018 Feb 18;2018:3890361pt_PT
dc.identifier.doi10.1155/2018/3890361pt_PT
dc.identifier.issn2090-6560
dc.identifier.issn2090-6579
dc.identifier.urihttp://hdl.handle.net/10400.16/2277
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherHindawipt_PT
dc.relation.publisherversionhttps://www.hindawi.com/journals/crihem/2018/3890361/pt_PT
dc.titleKIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.endPage16pt_PT
oaire.citation.startPage3890361pt_PT
oaire.citation.titleCase Reports in Hematologypt_PT
oaire.citation.volume2018pt_PT
person.familyNameLopes
person.familyNamePalla Garcia
person.familyNameLima
person.givenNameMarta Sofia
person.givenNameJosé
person.givenNameMargarida
person.identifier.ciencia-id8410-F6C9-183F
person.identifier.orcid0000-0003-0306-4731
person.identifier.orcid0000-0002-2758-6625
person.identifier.orcid0000-0001-9702-5260
person.identifier.ridS-7466-2016
person.identifier.scopus-author-id57194242721
person.identifier.scopus-author-id7202143317
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicatione9d23528-afe0-4597-a746-ce957a14680b
relation.isAuthorOfPublicationb5e38cb2-7eab-41d3-929b-999bf62a0f60
relation.isAuthorOfPublication1559a9cf-10eb-4d08-b39b-b58079d3bf45
relation.isAuthorOfPublication.latestForDiscovery1559a9cf-10eb-4d08-b39b-b58079d3bf45

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