RESUMO
BACKGROUND: Cancer-related thrombotic microangiopathy (CR-TMA) is a rare type of Coombs-negative hemolytic anemia, which is caused by malignancy and has a poor prognosis. CASE: A 76-year-old female was referred to our hospital due to Coombs-negative hemolytic anemia, which was causing fatigue and dyspnea on exertion, accompanied by schistocytosis. A bone marrow examination demonstrated bone marrow carcinomatosis, and the tumor cells were morphologically suspected to be signet-ring cell carcinoma cells. As we failed to find the primary tumor site before the patient died, she was diagnosed with CR-TMA due to bone marrow carcinomatosis of unknown primary origin. Thrombotic thrombocytopenic purpura (TTP) was rapidly ruled out based on her PLASMIC score. In addition, immunohistochemical staining of a clot section of the bone marrow and tumor marker data were useful for narrowing down the likely primary tumor site. CONCLUSION: Although CR-TMA is an extremely rare phenomenon, clinicians who suspect CR-TMA should quickly rule out TTP and decide whether to provide appropriate chemotherapy or plan for palliative care.
Assuntos
Anemia Hemolítica , Carcinoma , Coagulação Intravascular Disseminada , Neoplasias Primárias Desconhecidas , Neoplasias Peritoneais , Púrpura Trombocitopênica Trombótica , Microangiopatias Trombóticas , Feminino , Humanos , Idoso , Coagulação Intravascular Disseminada/etiologia , Coagulação Intravascular Disseminada/complicações , Púrpura Trombocitopênica Trombótica/complicações , Púrpura Trombocitopênica Trombótica/diagnóstico , Medula Óssea , Neoplasias Primárias Desconhecidas/complicações , Neoplasias Primárias Desconhecidas/diagnóstico , Microangiopatias Trombóticas/etiologia , Microangiopatias Trombóticas/complicações , Anemia Hemolítica/complicaçõesRESUMO
The present study reports the case of a patient with acute myeloid leukemia post-cytotoxic therapy (AML-pCT) that developed following chemotherapy for thymoma. A 64-year-old female patient underwent surgical resection for a mediastinal tumor and was diagnosed with stage IVa thymoma. She received chemotherapy, including carboplatin/etoposide, carboplatin/paclitaxel and amrubicin monotherapy. At 56 months following surgery, she developed blastosis and was diagnosed with AML-pCT. As demonstrated herein, although treatment for thymoma is associated with a markedly lower frequency of myeloid neoplasms post-cytotoxic therapy (MN-pCT) than treatment for other malignancies, such as breast carcinoma, it is important to be aware that MN-pCT may occur as a late complication of thymoma treatment.
RESUMO
BACKGROUND AND CASE: We herein present a case of the co-occurrence of JAK2-mutated essential thrombocythemia (ET) with chronic lymphocytic leukemia (CLL) harboring the recurrent and rare whole-arm translocation, der(8;17)(q10;q10). The co-existence of lymphoproliferative neoplasms and myeloproliferative neoplasms is suggested to be a rare event. Under this condition, the lymphoproliferative disorder presents a clinically indolent course with a low-risk biological profile. However, the present case showed aggressive disease progression, reflecting a poor prognostic factor; that is, the loss of 17p caused by the whole-arm der(8;17)(q10;q10) translocation. CONCLUSION: The present case report emphasizes the importance of considering the involvement of a genetically poor prognostic factor, regardless of the co-occurrence of CLL and ET.
Assuntos
Leucemia Linfocítica Crônica de Células B , Trombocitemia Essencial , Humanos , Janus Quinase 2/genética , Leucemia Linfocítica Crônica de Células B/complicações , Leucemia Linfocítica Crônica de Células B/diagnóstico , Leucemia Linfocítica Crônica de Células B/genética , Trombocitemia Essencial/complicações , Trombocitemia Essencial/diagnóstico , Trombocitemia Essencial/genética , Translocação GenéticaAssuntos
Cromossomos Humanos Par 14 , Cromossomos Humanos Par 20 , Eliptocitose Hereditária/diagnóstico , Eliptocitose Hereditária/etiologia , Eritrócitos/patologia , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/genética , Translocação Genética , Cariótipo Anormal , Idoso de 80 Anos ou mais , Humanos , Masculino , Síndromes Mielodisplásicas/diagnóstico , FenótipoRESUMO
Although isolated trisomy 9, a form of chromosome aneuploidy, is rare in acute myeloid leukemia (AML), up to 30 cases of AML involving isolated trisomy 9 have been reported to date. We report the case of a 77-year-old female with AML, in which trisomy 9 was detected as an isolated aberration. In addition, the patient's bone marrow displayed so-called sea-blue histiocytosis. The accumulation of further cases of isolated trisomy 9-harboring AML involving sea-blue histiocytosis is necessary to determine whether the coexistence of these findings is pathognomonic or a coincidence.
RESUMO
Whole-arm translocations are relatively rare among hematological malignancies. There are a few reports on myeloid malignancies harboring der(1;21)(q10;q10). A 65-year-old male was referred to our hospital due to squamous cell carcinoma of the lung. Pembrolizumab monotherapy resulted in progression, and so chemotherapy involving nab-paclitaxel and carboplatin was administered thereafter. The patient developed cytopenia, and his bone marrow exhibited dysplasia. Chromosomal analysis revealed a whole-arm translocation, der(1;21)(q10;q10). Thus, the patient was diagnosed with myelodysplastic syndrome. The der(1;21)(q10;q10) translocation is a rare variant of the der(1;7)(q10;p10) translocation, which is an adverse prognostic factor for myeloid neoplasms. Clarifying the clinical features of myeloid neoplasms in patients with der(1;21)(q10;q10) would facilitate the elucidation of their tumorigenic mechanisms.
RESUMO
The t(5;11)(q35;q13) reciprocal translocation is a rare chromosomal abnormality that can arise in myeloid neoplasms, mainly in children and younger adults. Here, we report a case of acute myeloid leukemia with maturation, involving an 85-year-old, in which the tumor cells harbored the t(5;11)(q35;q13) chromosomal abnormality. We also address the diagnostic and immunophenotypic characteristics of acute myeloid leukemia involving t(5;11)(q35;q13), along with a review of the literature.