Asunto(s)
Cromosomas Humanos Par 14 , Cromosomas Humanos Par 20 , Eliptocitosis Hereditaria/diagnóstico , Eliptocitosis Hereditaria/etiología , Eritrocitos/patología , Síndromes Mielodisplásicos/complicaciones , Síndromes Mielodisplásicos/genética , Translocación Genética , Cariotipo Anormal , Anciano de 80 o más Años , Humanos , Masculino , Síndromes Mielodisplásicos/diagnóstico , FenotipoRESUMEN
When chronic lymphocytic leukemia progressed to Richter syndrome, the coexistence of small and large lymphocytes was observed as a bone marrow finding. We consider this finding to be a clue for the progression of chronic lymphocytic leukemia to Richter syndrome.
RESUMEN
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.
RESUMEN
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.
Asunto(s)
Anemia Hemolítica , Carcinoma , Coagulación Intravascular Diseminada , Neoplasias Primarias Desconocidas , Neoplasias Peritoneales , Púrpura Trombocitopénica Trombótica , Microangiopatías Trombóticas , Femenino , Humanos , Anciano , Coagulación Intravascular Diseminada/etiología , Coagulación Intravascular Diseminada/complicaciones , Púrpura Trombocitopénica Trombótica/complicaciones , Púrpura Trombocitopénica Trombótica/diagnóstico , Médula Ósea , Neoplasias Primarias Desconocidas/complicaciones , Neoplasias Primarias Desconocidas/diagnóstico , Microangiopatías Trombóticas/etiología , Microangiopatías Trombóticas/complicaciones , Anemia Hemolítica/complicacionesRESUMEN
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.
Asunto(s)
Leucemia Linfocítica Crónica de Células B , Trombocitemia Esencial , Humanos , Janus Quinasa 2/genética , Leucemia Linfocítica Crónica de Células B/complicaciones , Leucemia Linfocítica Crónica de Células B/diagnóstico , Leucemia Linfocítica Crónica de Células B/genética , Trombocitemia Esencial/complicaciones , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/genética , Translocación GenéticaRESUMEN
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.
RESUMEN
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.
RESUMEN
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.