RESUMEN
Defined as a rare extramedullary tumor, myeloid sarcoma (MS) is in the attention of specialists, although the information in the literature is represented especially through case reports. MS can precede acute myeloid leukemia (AML), appear simultaneous and can be the only manifestation of leukemia relapse after allogeneic stem cell transplantation (allo-SCT). We present the case of a 30-year-old female diagnosed with acute myelomonocytic leukemia (AML M4), with complete remission (CR) after chemotherapy, followed by allo-SCT for consolidation. After five months, the patient presented right breast tumors. Ultrasound-guided biopsy of the breast lesion displayed diffuse infiltration of undifferentiated tumor cells, with blastic granulocytic features, strongly immunopositive for cluster of differentiation (CD) 45, CD99, CD34 and myeloperoxidase (MPO) and negative for all epithelial markers [MNF116, cytokeratin 7 (CK7), estrogen receptor (ER), progesterone receptor (PR), E-cadherin]. The final diagnosis was AML relapse with breast MS. After multiple leukemia relapses with breast MS, the patient died with cerebral bleeding secondary to severe thrombocytopenia.
Asunto(s)
Neoplasias de la Mama/etiología , Trasplante de Células Madre Hematopoyéticas/métodos , Leucemia Mielomonocítica Aguda/complicaciones , Sarcoma Mieloide/complicaciones , Acondicionamiento Pretrasplante/métodos , Trasplante Homólogo/métodos , Adulto , Neoplasias de la Mama/patología , Femenino , Humanos , Leucemia Mielomonocítica Aguda/patologíaRESUMEN
BACKGROUND: The KRAS gene mutation is the most common somatic change in colorectal carcinoma (CRC) and is predictive of resistance to anti-epidermal growth factor receptor (EGFR) therapy in the metastatic forms. Microsatellite instability (MSI), a mismatch repair (MMR) system defect, accounts for 15-20% of all CRCs, more frequent in early stages. CRCs with MSI present better prognosis, a distinct histopathological aspect and a different response to chemotherapy. Patients with both KRAS wild type and MSI have a reduced risk of dissemination and recurrence. MATERIALS AND METHODS: Our study included formalin-fixed paraffin-embedded tissue samples from 40 patients with metastatic CRCs, aged between 40 and 71 years old, gender (males/females) ratio 2.33:1. The MMR proteins were analyzed using an indirect bistadial immunohistochemical (IHC) technique with monoclonal antibodies. KRAS mutations were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: Of the 40 tumors analyzed, 40% presented KRAS mutations located in codon 12 or codon 13. IHC expression of MMR proteins revealed a microsatellite stable status in 35 cases, including 15 cases with mutated KRAS. MSI status was identified in five cases (four with KRAS wild type). All MSI tumors had a poorer histological differentiation and four cases revealed a mucinous phenotype. Eighty percent of the patients with MSI status were older women. CONCLUSIONS: Our study demonstrates a 20% frequency of mutated KRAS in MSI CRCs, the incidence of KRAS mutations being inversely correlated with MSI status in these tumors. MMR protein deficient CRCs tend to occur in older females, have a poorer differentiation and are frequently associated with KRAS wild type.
Asunto(s)
Neoplasias Colorrectales/genética , Reparación de la Incompatibilidad de ADN/fisiología , Proteínas Proto-Oncogénicas p21(ras)/metabolismo , Adulto , Anciano , Neoplasias Colorrectales/patología , Femenino , Humanos , Masculino , Inestabilidad de Microsatélites , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Bone determinations are usually the first sign of disseminated cancers, whether is a hematological malignancy or other type of neoplasia. The aim of this paper is the possibility of differentiating the bone lesions from hematological malignancies by other malignancies that give bone metastases for the purpose to guide the clinician concerning causality of bone lesions. The research involved a retrospective study, which included 309 cases that were investigated by magnetic resonance imaging (MRI) at a segment of the spine, between 2010 and 2014, from which 137 were diagnosed with a form of hematological neoplasia, and the remaining had another form of cancer. Imaging aspect differs in these two study groups. Bone determinations due to malignant hemopathies (MH) were in general hypointense on T1-weighted sequences, iso- or hyperintense on T2-weighted sequences. On the other hand, bone metastases were hypo- or isointense on T1-weighted sequences, and had no specific signal intensity on T2-weighted sequences. In post-contrast images, all lesions showed contrast enhancement, with some differences. In terms of imagistic aspect, there are certain characteristics that can make a clear differentiation between bone determinations due to MH from the bone metastases, and some are found in the majority of the cases studied.
Asunto(s)
Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/secundario , Neoplasias Hematológicas/diagnóstico por imagen , Neoplasias Hematológicas/diagnóstico , Imagen por Resonancia Magnética/métodos , Diagnóstico Diferencial , Femenino , Neoplasias Hematológicas/patología , Humanos , Masculino , Metástasis de la Neoplasia , Estudios RetrospectivosRESUMEN
UNLABELLED: Diffuse large B-cell lymphoma (DLBCL) represent the most frequently non-Hodgkin's lymphoma (NHL) (over 30%), especially in developing countries. Many associations of NHL with another neoplasia were described following chemotherapy or radiotherapy regimens. The coexistence of DLBCL with myeloproliferative neoplasms (MPNs) JAK2V617F positive at the onset was very rare reported in the literature. We describe a clinical case of a 52-year-old man who presented both diagnoses at the onset - DLBCL and MPN - polycythemia vera (PV) type. The patient was treated with two CHOP cycles (Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisolone) followed by six R-CHOP (Rituximab-CHOP) cycles, together with a platelet-reducing agent, achieving remission for 20 months, followed by a relapse which is under treatment. The clonally expansion of an abnormal pluripotent hematopoetic stem cell could be responsible for both, PV and DLBCL. However, recent reports suggested the possible involvement of two different clones. The clinical significance and the role of JAK2 mutation in the evolution of patients with NHLs, including DLBCL are still unknown. Further genetic and clinical studies have to point out common gene mutations for the two diseases and their connection with the diseases behavior under the treatment. CONCLUSIONS: The coexistence of NHLs and especially DLBCLs and MPNs JAK2 positive is very rare. Although DLBCL alone has good prognosis, other prognostic factors should be checked when it is associated with PV. The presence of JAK2V617F seems to be a candidate but whose role in DLBCL evolution, natural or under treatment has to be cleared up.
Asunto(s)
Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células B Grandes Difuso/patología , Policitemia Vera/complicaciones , Policitemia Vera/patología , Biopsia , Médula Ósea/patología , Humanos , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Pronóstico , Resultado del TratamientoRESUMEN
Hemophagocytic lymphohistiocytosis (HLH) is a very severe and rare syndrome of pathologic immune activation characterized by cytopenia and clinical signs and symptoms of extreme inflammation. HLH is usually fatal without treatment so that accurate and timely diagnosis is very important. The syndrome occurs as a familial disorder (familial HLH - FLH) or as an acquired condition (secondary - sHLH) in association with a variety of pathologic states: infections, rheumatologic, malignant or metabolic diseases. Malignancy associated HLH is primarily reported in T÷NK (natural killer)-cell malignancies but also in B-cell neoplasms and other types of cancer. HLH has also been reported in rare cases as a highly fatal and difficult to diagnose complication of stem cell transplantation (SCT). In this paper, we present the case of a young male patient who underwent autologous SCT as consolidation therapy for a T÷NK-cell lymphoma, complicated with graft failure due to HLH. The patient was successfully treated with corticosteroids, Etoposide, Cyclosporine and immunoglobulins. As a particularity, he developed a second B-cell neoplasia a few months after SCT.
Asunto(s)
Linfohistiocitosis Hemofagocítica/etiología , Trasplante de Células Madre/efectos adversos , Adulto , Biopsia , Médula Ósea/patología , Humanos , Ganglios Linfáticos/patología , Linfohistiocitosis Hemofagocítica/patología , Masculino , Mucosa Nasal/patología , Células Plasmáticas/patología , Trasplante AutólogoRESUMEN
Hairy cell leukemia variant (HCLv) is a rare B-cell chronic lymphoproliferative disorder with features of the classic HCL but presenting some particularities, a poor response to conventional therapy of classic HCL and a more aggressive course of disease with shorter survival than classic HCL. We present a case of a 52-year-old man hospitalized in July 2012 in the Clinic of Hematology of Craiova, Romania, having splenomegaly, leukocytosis with lymphocytosis, anemia and thrombocytopenia, without monocytopenia, which exposed, in the peripheral blood and bone marrow cells, intermediate morphology between hairy cells and prolymphocytes and immunophenotype of mature B-cell phenotype CD19, CD20, CD22, CD11c, CD103, low positive for CD25 and negative for CD3, diagnosed with HCL variant, with no response to conventional chemotherapy and interferon-alpha, an aggressive course of disease and a survival of less than a year from diagnosis.
Asunto(s)
Leucemia de Células Pilosas/patología , Antígenos CD/metabolismo , Resultado Fatal , Humanos , Leucemia de Células Pilosas/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Esplenomegalia/diagnóstico por imagen , Esplenomegalia/patología , Tomografía Computarizada por Rayos XRESUMEN
Malignant lymphoma (ML) is one of the major issues in modern medical practice, with an increasing incidence in recent years, which makes it, together with leukemia, the most frequent form of neoplasia affecting young people. The onset can occur both inside and outside the lymph nodes, with a quarter of the lymphomas with extranodal onset being located in the head and neck. The purpose of the paper is to conduct a retrospective study over a period of six years on patients diagnosed and admitted to the clinic with malignant lymphomas located in the head and neck, discussing their different histological variations. It emphasizes the importance of the histopathological examination and, in particular, of the immunohistochemical tests, in determining the histological subtype of the lymphoma, as the immunohistochemical and cytogenetic data of the malignant cell play a major role in the evolution and prognosis of patients. The study leads to the conclusion that, in spite of the advancements of the immunological, cytogenetic and molecular techniques, the diagnosis and histological determination of malignant lymphomas continue to be a challenge to clinicians and anatomical pathologists. Of particular importance in the efforts made for the accurate diagnosis and proper treatment of the ENT (ear, nose and throat) malignant lymphomas is the interdisciplinary collaboration between the ENT specialist, the hematologist, the anatomical pathologist, the oncologist and the nutritionist.
Asunto(s)
Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/terapia , Linfoma/patología , Linfoma/terapia , Humanos , Inmunohistoquímica , Ganglios Linfáticos/patología , Cavidad Nasal/patología , Tonsila Palatina/patología , Glándula Submandibular/patologíaRESUMEN
The occurrence of chronic myeloid leukemia (CML) and chronic lymphocytic leukemia (CLL) in the same patient is a rare event. In published literature, CML diagnosis follows CLL diagnosis or both leukemias are diagnosed simultaneously or rarely, CLL diagnosis follows CML diagnosis. We report the case of one patient with renal adenocarcinoma who was diagnosed with CLL 60 months after CML diagnosis. At that time, the patient was in complete cytogenetic response (CCyR) and major molecular response (MMR) of CML clone according to European LeukemiaNet (ELN) recommendations and presented clinical and hematological signs of progressive CLL clone. After 24 months of regular monitoring, the patient presented signs of CLL clone expansion. The FISH (fluorescence in situ hybridization) analysis for CLL prognostic factors, performed before treatment, was positive for tumor protein p53 (TP53) and 13q14.3 mutations. The Li-Fraumeni syndrome (LFS) was considered but TP53 mutation was considered acquired and patient's reduced overall, progression free and disease free survival might sustained that hypothesis. Imatinib (IM) was stopped and patient received chemotherapy until obtained a stable partial response. Twelve months after last cycle of chemotherapy, the patient received second line treatment due CLL clone progression signs but died due to neutropenia related complications. This article is the first Romanian report of CLL occurrence after CML diagnosis and as far as we know the fourth case report of such association in published literature.