Utilidad diagnóstica de la biopsia de médula ósea en pediatría / Diagnostic utility of biopsy of bone marrow in Pediatry

La biopsia de médula ósea (BMO) es un procedimiento invasivo que ha ganado campo en la práctica médica ya que se realiza para el diagnóstico, estadificación y seguimiento de enfermedades hematológicas y no hematológicas, benignas o neoplásicas, entre otros. El objetivo fue establecer el rol de la BMO en las hemopatías en Pediatría en el ION SOLCA Guayaquil- Ecuador. Se utilizó un estudio descriptivo retrospectivo donde se incluyeron a todos los pacientes pediátricos menores de 18 años de edad que se sometieron a BMO, desde Julio de 2014 a Julio de 2017 en el hospital. De las 1511 BMO realizadas en el periodo de estudio, 869 correspondieron a biopsias pediátricas, de las cuales el 57,08% fueron varones. La edad mediana fue 5 (RIC: 3-10) años. El tamaño promedio de la BMO fue de 0,74 (0,1-2,5) cm, con una celularidad media de 20% (4-100%). El motivo de consulta más frecuente fue la fiebre (22,67%). En el hemograma se detectó más frecuentemente bicitopenia (44,65%) y pancitopenia (24,63%). La Leucemia Linfoblástica Aguda (LLA) fue la enfermedad hematológica maligna más comúnmente encontrada (19,59%). Solo un 0,12% correspondió al grupo de Síndromes Mielodisplásicos (SMD), mientras que un 0,23% fueron Neoplasias Mieloproliferativas (NMP). El 26,93% de las biopsias no fueron aptas para el diagnóstico, el 48,45% se encontraron libres de enfermedad de base. La enfermedad oncohematológica pediátrica más frecuente es la LLA, mientras que los SMD y las NMP son infrecuentes. El rol del patólogo y de la BMO es fundamental en el diagnóstico de las enfermedades hematológicas, siempre en integración con la clínica y los exámenes complementarios.

Bone marrow biopsy (BMB) is an invasive procedure that has gained ground in medical practice since it is performed for the diagnosis, staging and monitoring of hematological and non-hematological, benign or neoplastic diseases, among others. This work aims to establish the role of the BMB in hematological diseases in Pediatrics in the ION SOLCA Guayaquil ­ Ecuador. A non-experimental design study, descriptive type was used, that included all pediatric patients under 18 years of age who submitted a BMB, from July 2014 to July 2017 in the hospital. Of the 1511 BMB performed in the study period, 869 corresponded to pediatric biopsies, of which 57.08% belong to male patients. The median age was 5 (interquartile range: 3 - 10) years. The average size of the BMB was 0.74 (0.1 - 2.5) cm, with an average cellularity of 20% (4 - 100%). The most frequent reason for consultation was fever (22.67%). In the complete blood count, bicytopenia (44.65%) and pancytopenia (24.63%) were detected most commonly. Acute Lymphoblastic Leukemia (ALL) was the most frequent malignant hematologic disease (19.59%). Only 0.12% corresponded to the group of Myelodysplastic Syndromes (MDS), while 0.23% were Myeloproliferative Neoplasms (MPN). 26.93% of the biopsies were not apt for diagnosis, 48.45% were free of base disease. The most cfrequent pediatric onco-hematologic disease is ALL, while MDS and MPN are infrequent. The role of the pathologist and the BMP is fundamental in the diagnosis of hematological diseases, always in integration with the clinic and complementary examinations.

Non-haematopoietic malignancies metastasing to the bone marrow: A 5 year record-based descriptive study from a tertiary care centre in South India.

INTRODUCTION: Bone marrow involvement by a non-haematological malignancy gives an opportunity to identify the lodgement, invasion of metastatic cells and the response of the host to the tumor cells. The study was undertaken to assess the involvement of bone marrow with non-haematopoietic malignancies and its significance in establishing primary diagnosis in clinically unsuspected cases. MATERIALS AND METHODS: This was a descriptive study which included record review of the departmental archives for the last five years (January 2007 to December 2011). Eighty four cases were studied; which included clinically diagnosed non-haematological malignancy for staging or symptomatic cytopenias/bony lesions (group 1, n = 63), clinically suspected bone marrow metastasis of unknown primary malignancy due to symptomatic cytopenias/bony lesions (group 2, n = 07) and clinically unsuspected malignancy with incidentally detected bone marrow metastasis (group 3, n = 14). RESULTS: Bone marrow metastases of solid tumors were identified in 23 cases (27.3%) which included 9 cases from group 1, 14 cases from group 3 and nil in group 2. Of the 14 cases in group 3, in 12 cases a definitive diagnosis could be made by correlating clinicoradiological findings with morphology and immunohistochemistry. The most common tumor in pediatric cases were neuroblastoma and Ewing’s sarcoma (40%) and in adult’s adenocarcinoma of gastrointestinal tract (30.7%) was the commonest. CONCLUSION: Bone marrow metastasis can masquerade as a primary haematopoietic disorder; however its detection has both therapeutic and prognostic significance. Immunohistochemistry is a useful adjunct to morphology in reaching a definitive diagnosis.

Radionuclide treatment with 153Sm-EDTMP is effective for the palliation of bone pain in the context of extensive bone marrow metastases: a case report

Radionuclide therapy is widely used as an effective modality in the management of bone pain. The main indication for this treatment is symptomatic bone metastases, confirmed by bone scintigraphy. We present a case of small cell lung cancer [SCLC] stage T[4]N[2]M[1b], with a good metabolic response to systemic therapy and radiotherapy of the primary tumor and locoregional disease, which became metabolically less active and remarkably smaller in size [reduction to 1/6 of the original volume]. In spite of the good overall response, the patient developed a syndrome with severe bone pain and had progression in the bone marrow metastases, confirmed by [18]F-FDG PET/CT. The patient received [153]Sm-EDTMP treatment with a good clinical response. However, in the whole body bone scan with the therapeutic dose, there was no visual evidence of bone metastasis. Retrospectively, by drawing the region of interest, it was possible to identify one metastatic site. The possible mechanisms of the efficacy of this treatment modality, in this specific setting, are also discussed

Metachronous early gastric adenocarcinoma presenting coinstantaneously with complete remission of stage IV gastric MALT lymphoma

Adenocarcinoma and lymphoma represent the two most common malignant tumours of the stomach, with both neoplasms being associated with infection by Helicobacter pylori. However, the presence of lymphoma and adenocarcinoma in the same patient is a rare entity with synchronous neoplasms being more common than metachronous types. We report a case of stage IV gastric MALT lymphoma of the gastric angle with infiltration of the bone marrow successfully treated with chemotherapy and the occurrence of metachronous early gastric adenocarcinoma of the fundus presenting 1 year after the diagnosis of the lymphoma

Extraneural metastases in medulloblastoma / Mestástases extraneurais em moduloblastoma

Medulloblastoma is the most common childhood malignant tumor of central nervous system, but it may also occur in adults. It presents high invasive growth with spreading of tumor cells into the leptomeningeal space along the neuroaxis early in the course of the disease. Extraneural metastases are rare but frequently lethal, occurring only in 1 to 5 percent of patients, and are related, in the most of cases, to the presence of ventriculoperitoneal shunt. Here we characterize the clinical profile of five cases of medulloblastoma with systemic spreading of tumor cells, also comparing them to cases already described in the literature.

O meduloblastoma é o tumor maligno mais frequente do sistema nervoso central na infância, mas também pode ocorrer em adultos. Ele apresenta crescimento altamente invasivo com disseminação de células tumorais ao longo do neuroeixo precocemente no curso da doença. Metástases extraneurais são raras mas frequentemente letais, ocorrendo apenas em 1 a 5 por cento dos pacientes, e estão relacionadas, na maioria dos casos, a presença de derivação ventriculperitoneal. Neste artigo ,apresentamos o perfil de cinco casos de meduloblastoma com disseminção sistêmica das células tumorais, comparando-os com os casos já descritos na literatura.

Estesioneuroblastoma con metástasis en médula ósea. Presentación de un caso y revisión de la literatura / Esthesioneuroblastoma with bone marrow metastasis. A case report and review of the literature

El estesioneuroblastoma (ENB) es un tipo de cáncer poco común que se desarrolla en el área olfatoria de las fosas nasales, de baja malignidad con recidivas tardías locales. El propósito de este trabajo es presentar el caso de un paciente con diagnóstico de ENB con metástasis en médula ósea y revisión de la literatura acerca de la patología.

Esthesioneuroblastoma (ENB) is an uncommon malignant neoplasm that grows in the nostrils olfactory’s area with low malignancy and late local relapses. The purpose of this paper work is to present a patient case with diagnosis of ENB and bone marrow metastasis, and to review the literature about the pathology.

Metastatic signet ring gastric adenocarcinoma presenting with microangiopathic hemolytic anemia.

Metastatic adenocarcinoma presenting as microangiopathic hemolytic anemia (MAHA) and leukoerythroblastic blood picture is rare. We report three patients who presented with MAHA as the initial symptom of metastatic signet ring cell gastric adenocarcinoma. One patient had past history of gastric ulcer. In all these patients the initial diagnosis was based on peripheral blood smear followed by bone marrow biopsy; upper GI endoscopy showed presence of gastric ulcers with focally scattered neo-plastic signet ring cells on histopathology. All patients died within a week of diagnosis.

Detección de micrometástasis en médula ósea de pacientes con cáncer de vesícula biliar / Detection of bone marrow micrometastases in patients with gallbladder cancer

Background: There is a very strong documented correlation between the appearance of cancer cells in blood and occurrence of metastasis in gastrointestinal cancer. Aim: To determine MUC1, CK19, CK20 and CEA mRNA expression in bone marrow of patients with gallbladder cancer and evaluate its clinical significance. Material and methods: Sixty eight samples were analyzed, 38 bone marrow samples of gallbladder cancer patients, 20 healthy donors, and 10 frozen samples of gallbladder cancer. Nested reverse transcriptase-polymerase chain reaction (nested RT-PCR) was used to analyze mRNA expression. Results: All frozen tumors were positive for CEA, CK19, and MUC1 mRNA and 70 percent were positive for CK20. Seventeen of 20 donor samples were positive for MUC1 and only one sample from donors was positive for both CK20 and CK19 mRNA. Among the 38 blood and bone marrow samples of gallbladder cancer patients, the expression of MUC1, CK19, CK20, and CEA, mRNA was 60.5 percent (23/38), 31.6 percent (12/38), 7.9 percent (3/38), and 7.9 percent (3/38), respectively. Disregarding the MUC1 results. 37 percent (14/38), 13 percent (5/38) and 5 percent (2/38) were positive for one, two and three markers respectively. Not significant differences were found in survival with a follow up to 12 months. Conclusion: Our results indicate that the molecular detection of tumor cells in bone marrow in patients with gallbladder carcinoma is technically possible, being CEA, CK19 and CK20 gene expression the best markers. The MUC1 gene expression marker was highly unspecific and it should not been considered. The detection of bone marrow micrometastasis might be helpful in prognosis and the selection of clinical treatment but a larger series with a longer follow-up should be studied.

Detecção de micrometástases na medula óssea de pacientes com câncer inicial: correlação com estadiamento pós-cirúrgico(pTNM), idade e grau histológico / Detection of bone marrow micrometastases in patients with primary breast cancer: correlations with pTNM stage, age and histological grade

A disseminação oculta de células tumorais é uma das maiores causas de recaída após o tratamento local, e a detecção de células epiteliais(micrometástases) na medula óssea de pacientes com câncer de mama pode ter implicações no prognóstico. O objetivo deste trabalho foi detectar micrometástases na medula óssea utilizando técnica de biologia molecular, a imunocitoquímica(ICC), e correlacioná-la com as características clínicas e patológicas apresentadas pelas pacientes selecionadas. O aspirado de medula óssea foi obtido de 37 pacientes portadoras de câncer de mama nos estádios clínicos I, II e IIIA, com indicação de tratamento cirúrgico. A punção da medula óssea foi realizada na crista ilíaca ântero-superior, imediatamente antes do procedimento cirúrgico, e estocada em tubos tratados com heparina. Para análise da imunocitoquímica, utilizamos anticorpo monoclonal pancitoqueratina. Nossos resultados mostraram especificidade e sensibilidade para a técnica de ICC. Os casos positivos para micrometástases incluem 26,3 por cento dos pacientes sem e 72,2 por cento dos pacientes com linfonodos positivos. Concluímos que a presença de micrometástases na medula óssea foi estatisticamente significativa quanto ao grau histológico do tumor e quanto ao número de linfonodos axilares comprometidos. Nas pacientes com axilas livres, consideradas de baixo risco, a presença de micrometástases na medula óssea permite identificar um subgrupo de pacientes de risco

Bone marrow involvement in lymphomas: incidence and correlation with age and sex

A study was conducted over a period of five years, from January 1997 to December 2001, to find out the incidence of Non-Hodgkin's Lymphoma and Hodgkin's Disease with bone marrow involvement, in correlation to age and sex of the patient. The study included 332 diagnosed patients of Lymphoma referred by the Oncology Department of Jinnah Hospital, Lahore, to the Pathology Department of Allama lqbal Medical College, Lahore, for bone marrow biopsy. There were 245 patients with Non-Hodgkin's Lymphoma and bone marrow infiltration was noted in 134 [54.7%]. Out of them 168 [68.6%] were males with infiltration in 87 [51.8%], while there were 77 [31.4%] females showing bone marrow involvement in 47 [61%]. Highest number of cases was between 51 - 60 years but bone marrow infiltration was more above the age of 60 years. Hodgkin's Disease comprised of 87 patients and 24 [27.6%] showed involvement of the bone marrow. They included 73 [83.9%] males and 14 [16.1%] females with bone marrow involvement in 16 [21.9%] and 8 [57%] respectively. Maximum number of cases were in the first two decades of life but highest percentage of bone marrow infiltration was above the age of 60 years

Estudo histológico e imuno-histoquímico do neuroblastoma metastático na medula óssea / Histological and immunohistochemical study of metastatic bone marrow neuroblastoma

Os objetivos deste estudo foram analisar uma série de neuroblastomas metastáticos na medula óssea e avaliar a sua imunorreatividade para enolase neurônio-específica (NSE) e "protein gene product 9,5" (PGP 9,5). Estudaram-se retrospectivamente 64 biópsias de medula óssea de 44 pacientes, das quais 32 apresentavam metástases de neuroblastoma. A neoplasia era constituída predominantemente por células em diferenciação em 21 casos (65,6 por cento) e por células indiferenciadas em 11 (34,4 por cento). A imuno-histoquímica foi positiva em 28 biópsias (87,5 por cento). Em neoplasias em diferenciação a maior parte da massa tumoral era imunorreativa para ambos os anti-soros, enquanto que nas neoplasias indiferenciadas não se observou imunorreatividade em até 50 por cento da massa tumoral. Concluímos que, nos casos de estadiamento da neoplasia, a análise pelos métodos rotineiros mostrou acuidade diagnóstica idêntica à da imuno-histoquímica. Este método foi útil na detecção de neoplasias residuais após o tratamento.