Presence of CD34+ in Megakaryocytes in Association With p53 Expression Predicts Unfavorable Prognosis in Low-risk Myelodysplastic Syndrome Patients.

BACKGROUND/AIM: Although risk stratification using the Prognostic Scores Systems (IPSS, WPSS and IPSS-R) incorporate key information about prognosis of patients with Myelodysplastic syndromes (MDS), patients classified as low-risk may evolve rapidly and aggressively, despite a "favorable" prognostic stratification. The aim of this study was to identify biomarkers for predicting prognosis, and for better stratification and management of these patients. MATERIALS AND METHODS: Expression of CD34 and p53 in megakaryocytes was examined by immunohistochemistry in 71 MDS patients classified as low-risk. RESULTS: CD34 staining in megakaryocytes was associated with p53 expression (p=0.0166). CD34 and p53 expression were associated to worse overall survival in patients (p=0.0281). CONCLUSION: The presence of CD34 in megakaryocytes is associated with p53 expression and an adverse prognosis for MDS patients.

Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome: two case reports.

BACKGROUND: Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute myeloid leukemia. In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis. In the present study, two mutations in this gene are presented and discussed with the clinical evolution of the patients. CASE PRESENTATION: The first case is a 77-year-old Brazilian woman diagnosed as having multiple lineage dysplasia myelodysplastic syndrome according to World Health Organization 2016 and classified as very low-risk by Revised International Prognostic Scoring. The second case is an 80-year-old Brazilian man also diagnosed as having multiple lineage dysplasia myelodysplastic syndrome and classified as low risk. The mutation described in the first case was already identified in some neoplasias and it is associated with a poor prognosis, but it had never been reported before in myelodysplastic syndrome. The second mutation has never been described. CONCLUSIONS: This is a novel report for the scientific community and may be very helpful as we can better understand the disease and the impact of mutations through the follow-up of these patients and others in the future. Both patients are in a good clinical condition, suggesting that these mutations may not alter the clinical course of the disease or may be associated with a good prognosis, but their role in the disease must be investigated more deeply in a larger population.

Tumor suppressor p53 protein expression: prognostic significance in patients with low-risk myelodysplastic syndrome.

BACKGROUND: At the time of diagnosis, more than 50% of patients with myelodysplastic syndrome have a normal karyotype and are classified as having a favorable prognosis. However, these patients often show very variable clinical outcomes. Furthermore, current diagnostic tools lack the ability to look at genetic factors beyond karyotyping in order to determine the cause of this variability. OBJECTIVE: To evaluate the impact of p53 protein expression at diagnosis in patients with low-risk myelodysplastic syndrome. METHODS: This study enrolled 38 patients diagnosed with low-risk myelodysplastic syndrome. Clinical data were collected by reviewing medical records, and immunohistochemical p53 staining was performed on bone marrow biopsies. RESULTS: Of the 38 participants, 13 (34.21%) showed p53 expression in their bone marrow. At diagnosis, this group of patients also presented clinical features characteristic of a poor prognosis more often than patients who did not express p53. Furthermore, patients expressing p53 had a shorter median survival time compared to those without p53 expression. CONCLUSION: This study shows that the expression of p53 at diagnosis is a useful indicator of distinct clinical characteristics and laboratory profiles found in low-risk myelodysplastic syndrome patients. These data indicate that the immunohistochemical analysis of p53 may be a prognostic tool for myelodysplastic syndrome and should be used as an auxiliary test to help determine the best therapeutic choice.

Tumor suppressor p53 protein expression: prognostic significance in patients with low-risk myelodysplastic syndrome

BACKGROUND: At the time of diagnosis, more than 50% of patients with myelodysplastic syndrome have a normal karyotype and are classified as having a favorable prognosis. However, these patients often show very variable clinical outcomes. Furthermore, current diagnostic tools lack the ability to look at genetic factors beyond karyotyping in order to determine the cause of this variability. OBJECTIVE: To evaluate the impact of p53 protein expression at diagnosis in patients with low-risk myelodysplastic syndrome. METHODS: This study enrolled 38 patients diagnosed with low-risk myelodysplastic syndrome. Clinical data were collected by reviewing medical records, and immunohistochemical p53 staining was performed on bone marrow biopsies. RESULTS: Of the 38 participants, 13 (34.21%) showed p53 expression in their bone marrow. At diagnosis, this group of patients also presented clinical features characteristic of a poor prognosis more often than patients who did not express p53. Furthermore, patients expressing p53 had a shorter median survival time compared to those without p53 expression. CONCLUSION: This study shows that the expression of p53 at diagnosis is a useful indicator of distinct clinical characteristics and laboratory profiles found in low-risk myelodysplastic syndrome patients. These data indicate that the immunohistochemical analysis of p53 may be a prognostic tool for myelodysplastic syndrome and should be used as an auxiliary test to help determine the best therapeutic choice. .

Metastatic prostate adenocarcinoma associated with numb chin syndrome.

Metastatic tumors to the oral cavity are rare and account for approximately 1% of all malignant oral neoplasms. About 765 cases have been published in the English- and Chinese-language literature since 1950, with less than 6% of these cases corresponding to prostate cancer metastasis. Because of their uncommon incidence, the diagnosis of oral metastases, especially those originating from the prostate gland, may represent a challenge for general dentists, oral pathologists, and oral radiologists. Thus, the aim of this study was to describe an interesting case of prostate adenocarcinoma metastasizing to the posterior mandible. In addition, association with numb chin syndrome present in this case was discussed.

Cutaneous Rosai-Dorfman disease.

Rosai-Dorfman disease is a self-limited benign disease. Rosai and Dorfman first described it in 1969, and the etiology of the disease remains unknown. Main manifestations are cervical adenopathy associated with fever, leukocytosis with neutrophilia and polyclonal gamaglobulinemia. Although the skin is the most common site of extra nodal disease, Rosai-Dorfman disease restricted to the skin is very rare with only a few cases described in the literature. This paper reports a rare case of cutaneous Rosai-Dorfman with skin as the sole site, and reviews the controversies of diagnosis and treatment.

Doença de Rosai-Dorfman cutânea / Cutaneous Rosai-Dorfman Disease

Doença de Rosai-Dorfman é uma doença benigna e autolimitada. Tem etiologia desconhecida e foi descrita pela primeira vez por Rosai e Dorfman em 1969. As manifestações clássicas incluem linfadenopatia cervical usualmente acompanhada por febre, leucocitose com neutrofilia e hipergamaglobulinemia policlonal. Apesar de a pele ser o principal sítio extranodal da doença, sua manifestação restrita à pele costuma ser bastante rara com poucos casos descritos na literatura. O trabalho tem como objetivo relatar um caso de Doença de Rosai-Dorfman cutânea com revisão da literatura onde são abordados os diferentes aspectos do diagnóstico e do tratamento dessa doença.

Rosai-Dorfman disease is a self-limited benign disease. Rosai and Dorfman first described it in 1969, and the etiology of the disease remains unknown. Main manifestations are cervical adenopathy associated with fever, leukocytosis with neutrophilia and polyclonal gamaglobulinemia. Although the skin is the most common site of extra nodal disease, Rosai-Dorfman disease restricted to the skin is very rare with only a few cases described in the literature. This paper reports a rare case of cutaneous Rosai-Dorfman with skin as the sole site, and reviews the controversies of diagnosis and treatment.

Influência do CD 20 na refratariedade do linfoma de Hodgkin clássico ao tratamento inicial com o esquema ABVD, no Ceará, Brasil / Influence of CD 20 antigen expression in the refractoriness of classical Hodgkin lymphoma in the first line treatment with ABVD protocol in Ceará state, Brazil

INTRODUÇÃO: A significância prognóstica do marcador imunológico CD 20 no linfoma de Hodgkin clássico (LHc) ainda é incerta, particularmente no que se refere à refratariedade ao tratamento inicial. OBJETIVOS: Avaliar a influência da positividade do marcador CD 20 na refratariedade do LHc ao tratamento poliquimioterápico inicial, com o esquema doxorubicina 25 mg/m², bleomicina 10 mg/m², vinblastina 6 mg/m² e dacarbazina 375 mg/m² (ABVD), no Ceará, Brasil. MATERIAL E MÉTODOS: Estudo analítico incluindo 97 pacientes com diagnóstico de LHc firmado entre janeiro de 2000 e dezembro de 2004. A análise foi realizada avaliando variáveis demográficas, clínicas e laboratoriais. RESULTADOS: Foi evidenciada uma positividade do CD 20 em 38,1 por cento dos pacientes. Na análise bivariada, CD 20 positivo (razão de chance [RC] = 4,02; intervalo de confiança [IC] = 1,09 - 8,54; p = 0,02), a presença de sintomas B (RC = 4,02; IC = 1,18-17,51; p = 0,01) e a elevação da desidrogenase lática (mediana não-refratários 248,5 [200,5 - 389,5]; mediana refratários 356 [208,5 - 545]; p = 0,03) apresentaram relação de pior prognóstico quanto à refratariedade. Na regressão logística, o CD 20 positivo (RC ajustada = 3,6; IC = 0,99 - 13,09; p = 0,05) e a presença de sintomas B (RC ajustada = 5,41; IC = 1,16 - 25,34; p = 0,03) continuaram apresentando pior prognóstico. DISCUSSÃO: Esses dados coincidem com a literatura, em que a positividade do marcador CD 20 está relacionada com pior resposta ao tratamento com ABVD. CONCLUSÃO: Os nossos dados indicam que o tratamento com ABVD não é completamente adequado para a abordagem terapêutica inicial deste subgrupo de pacientes e novas pesquisas precisam ser realizadas no sentido de aperfeiçoar o tratamento destes pacientes.

INTRODUCTION: The prognostic value of CD20 antigen expression in classical Hodgkin lymphoma (cHL) is uncertain, particularly regarding the refractoriness to first-line treatment. OBJECTIVES: To assess the influence of CD20 positiveness on the refractoriness of cHL to first-line chemotherapy with ABVD protocol in Ceará State, Brazil. MATERIAL AND METHODS: Analytical study including 97 patients diagnosed with cHL between January/2000 and December/2004. The analysis was performed evaluating demographic, clinical and laboratory variables. RESULTS: CD20 antigen expression was positive in 38.1 percent of the patients. In the bivariate analysis, CD20 antigen expression (OR = 4.02; CI = 1.09 - 8.54; p = 0.02), the presence of B-symptoms (OR = 4.02; CI = 1.18-17.51; p = 0.01) and an elevated lactate dehydrogenase level (median not refractory 248.5 [200.5 - 389.5]; median refractory 356 [208.5-545]; p = 0.03) showed worse prognosis as to refractoriness. In the logistic regression analysis, the presence of CD 20 (OR = 3.6; CI = 0.99-13.09; p = 0.05) and B-symptoms (OR = 5.41; CI = 1.16-25.34; p = 0.03) continued to show worse prognosis. DISCUSSION: These findings coincide with literature data indicating that CD 20 antigen expression is associated with low response to treatment with ABVD. CONCLUSION: Our data show that the treatment with ABVD is not totally appropriate for the initial therapeutic approach in this subgroup of patients and that further studies are required to optimize their treatment.

Oral Granulocytic Sarcoma: A case report

Granulocytic sarcoma (GS) is a localized infiltrate of immature granulocytes in an extramedullary site. This lesion is most frequently associated with leukemia, but can occur associated with others myeloproliferative disorders. GS can affect virtually any part of the body, but lesions in the oral cavity are rare, with only 37 cases described. Case Description: We present a rare case of GS in a 23-year-old female, with a prior history of acute myeloid leukemia, presenting with a solitary mandibular swelling in the region of the erupting 3rd lower left molar. After biopsy, conventional immunohistochemical stains were positive for CD45 (hematological marker) and myeloid markers, such as myeloperoxidase, and CD68, demonstrating myeloid lineage with monocytic cells differentiation, suggesting the diagnosis of GS associated to Acute Myeloid Leukemia (AML-M5). Clinical implication: Although GS is a rare tumor in oral cavity, and its diagnosis is usually difficult, the clinician must know about its existence to make differential diagnosis (AU)

Oral granulocytic sarcoma: a case report.

UNLABELLED: Granulocytic sarcoma (GS) is a localized infiltrate of immature granulocytes in an extramedullary site. This lesion is most frequently associated with leukemia, but can occur associated with other myeloproliferative disorders. GS can affect virtually any part of the body, but oral lesions are rare, with only 37 cases described. CASE DESCRIPTION: We present a case of GS in a 23-year-old female, with a prior history of acute myeloid leukemia, presenting with a solitary mandibular swelling in the region of the erupting lower left 3rd molar. After biopsy, conventional immunohistochemical stains were positive for CD45 (hematological marker) and myeloid markers, such as myeloperoxidase, and CD68, demonstrating a myeloid lineage with monocytic cell differentiation, suggesting the diagnosis of GS associated to AML-M5. CLINICAL IMPLICATION: Although GS is a rare tumor in the oral cavity, and its diagnosis is usually difficult, the clinician must know of its existence in order to make a differential diagnosis.

Orbital metastasis as primary clinical manifestation of thyroid carcinoma: case report and literature review / Metástase orbital como manifestação clínica primária de carcinoma de tireóide: relato de caso e revisão de literatura

Capillary thyroid carcinoma (PTC) is the most common neoplasm of thyroid. It usually grows slowly and is clinically indolent, although rare, its aggressive forms with local invasion or distant metastases can occur. Metastatic thyroid carcinoma rarely involves the orbit. We reported an uncommon case of orbital metastasis of PTC. A 66-years-old woman presented proptosis of the right eye. The biopsy of the tumor in orbit revealed metastatic thyroid carcinoma. The ultrasensitive TSH level was 1,34 mUI/L and free T4 level was 1,65 ng/dL. A total thyroidectomy was performed and histopathological analysis of the nodule revealed follicular variant of papillary thyroid carcinoma. Currently, the patient has been receiving palliative chemotherapy with Clodronate Disodium. The importance of the case is due to its unusual presentation, which emerged as a primary clinical manifestation. Although rare, thyroid carcinoma should be suspected in orbit metastasis.

Carcinoma papilífero da tiróide (PTC) é a neoplasia mais comum da tiróide. Geralmente cresce lentamente e é clinicamente indolente, embora raras, as formas agressivas com invasão local ou metástases distantes podem ocorrer. Carcinoma metastático da tiróide raramente envolve a órbita. Relatamos um caso raro de metástase orbital de PTC. Uma mulher de 66 anos apresentou proptose no olho direito. A biópsia do tumor em órbita revelou carcinoma metastático da tiróide. O nível ultra-sensível do TSH foi de 1,34 mUI/L e T4 livre foi de 1,65 ng/dL. A tireoidectomia total foi realizada e a análise histopatológica do nódulo revelou carcinoma papilífero variante folicular da tiróide. Atualmente, a paciente recebe quimioterapia paliativa com clodronato dissódico. A importância do caso é devido à sua apresentação incomum que surgiu como principal manifestação clínica. Embora raro, o carcinoma da tiróide deve ser pensado em metástase orbitária.

Orbital metastasis as primary clinical manifestation of thyroid carcinoma--case report and literature review.

Capillary thyroid carcinoma (PTC) is the most common neoplasm of thyroid. It usually grows slowly and is clinically indolent; although rare, its aggressive forms with local invasion or distant metastases can occur. Metastatic thyroid carcinoma rarely involves the orbit. We reported an uncommon case of orbital metastasis of PTC. A 66-years-old woman presented proptosis of the right eye. The biopsy of the tumor in orbit revealed metastatic thyroid carcinoma. The ultrasensitive TSH level was 1,34 mUI/L and free T4 level was 1,65 ng/dL. A total thyroidectomy was performed and histopathological analysis of the nodule revealed follicular variant of papillary thyroid carcinoma. Currently, the patient has been receiving palliative chemotherapy with Clodronate Disodium. The importance of the case is due to its unusual presentation, which emerged as a primary clinical manifestation. Although rare, thyroid carcinoma should be suspected in orbit metastasis.

Localização no calcâneo de linfoma não-Hodgkin B de grandes células primário do osso: relato de caso e revisão de literatura / Calcaneous involvement by primary large B-cell non-Hodgkin's lymphoma of bone: a case report and literature review

Descreve-se, neste artigo, um caso raro de linfoma não-Hodgkin B de grandes células extranodal primário do osso em um paciente de seis anos de idade, do sexo masculino, com manifestaçãoclínica e radiológica inicial em localização não-comum (tálus).

A case of a 6-year-old male primary B-cell non-Hodgkin's lymphoma with lytic bone lesion in an unusual location was demonstrated by clinical and radiologic examination.

Analysis of the association between Epstein-Barr virus and classic Hodgkins lymphoma in adult patients from Ceará (Brazil) by immunohistochemistry and in situ hybridization

The prevalence of Epstein-Barr virus (EBV) in patients with classical Hodgkins lymphoma (CHL) is geographically variable. In the present study the prevalence of EBV in CHL was assessed in adult patients from Ceará, Brazil. Thirty-seven cases were immunohistochemically evaluated for EBV using latent membrane protein (LMP1) antibody and for EBV latency-associated RNA (EBER1) using in situ hybridization (ISH). Sex and age did not differ among patients as to the frequency of CHL. Nodular sclerosis was the predominant histological subtype. LMP1 was found in Reed-Sternberg cells in 67.5 percent of the cases whereas ISH detected EBER1 in 75.6 percent. Regarding histological subtypes EBV infection rates were not found statistically different in nodular sclerosis (NS) and mixed cellularity (MC) subtypes (p = 0.66).

A freqüência do vírus Epstein-Barr (EBV) em pacientes com linfoma de Hodgkin Clássico (LHC) sofre variabilidade geográfica. No presente estudo investigamos a freqüência do EBV em pacientes com LHC no estado do Ceará. Trinta e sete casos de linfoma de Hodgkin clássico foram avaliados por imuno-histoquímica para EBV usando o anticorpo monoclonal contra a proteína latente da membrana (LMP1) e pelo método de hibridização in situ para RNA associado ao EBV (EBER1). Não há diferença por sexo e idade dos pacientes no que concerne à freqüência de LHC. O subtipo histológico esclerose nodular foi predominante. LMP1 esteve presente em células Reed-Sternberg em 67,5 por cento e pela hibridização in situ, através da sonda EBER, foi evidente em 75,6 por cento dos casos. Não observamos predominância significativa da associação de EBV com os subtipos histológicos esclerose nodular (EN) e celularidade mista (CM) (p = 0,66).