scholarly journals Kaposiform hemangioendothelioma/Kasabach–Merritt syndrome. Сlinical and laboratory characteristics. Analysis of clinical cases

2021 ◽  
Vol 20 (3) ◽  
pp. 74-91
Author(s):  
L. A. Khachatryan ◽  
I. S. Kletskaya ◽  
A. N. Remizov ◽  
G. A. Novichkova ◽  
A. A. Maschan
Keyword(s):  
Heart Function ◽  
Kaposi Sarcoma ◽  
Volume Overload ◽  
Vascular Tumor ◽  
Congenital Defects ◽  
Consumption Coagulopathy ◽  
Kaposiform Hemangioendothelioma ◽  
Liver Size ◽  
Pediatric Hematology ◽  
National Medical

Kaposiform hemangioendothelioma (KHE) is a rare, usually congenital vascular tumor. It resembles Kaposi sarcoma histologically, but etiologically it is not associated with herpes simplex virus type 8. KHE refers to tumors of intermediate malignancy degree. The most severe complication is the addition of thrombocytopenia and consumption coagulopathy, i.e. development of the Kasabach–Merritt syndrome/phenomenon (KMS), which determines the high mortality rate (up to 30%) in this histological variant. The frequency of occurrence of KMS is unknown. Over Patients with KHE/KMS have clear clinical and laboratory characteristics, which in most cases allow make to diagnose without histological confirmation. Over 7-year follow-up period 32 patients with KHE were registered in our center; in 90.6% of cases it was complicated by the development of KMS. The study was approved by the Independent Ethics Committee and Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. In the most of patients the tumor was detected from birth (84%), in half of the cases (52%) hematological complications were diagnosed simultaneously with the detection of the tumor. Сommon local complications include joint contractures, destruction of bone tissue, and invasion of neighboring organs. The half of the patients had changes in the heart function: from minor cardiac pathology to congenital defects. In addition, there were clinical and instrumental changes associated with volume overload: an increase in liver size, myocardial hypertrophy. Despite the presence of clear clinical and laboratory characteristics of KMS, some cases require differential diagnosis with other vascular anomalies accompanied by thrombocytopenia and consumption coagulopathy – with congenital hemangiomas (rapidly involuting congenital hemangioma), multifocal lymphangioendotheliomatosis with thrombocytopenia, kaposiform lymphangiomatosis, venous malformations. The parents of the patients agreed to use the information, including photos of children, in scientific research and publications.

scholarly journals Kaposiform Hemangioendothelioma: clinicopathological characteristics of 8 cases of a rare vascular tumor and review of literature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Qurratulain Chundriger ◽  
Muhammad Usman Tariq ◽  
Jamshid Abdul-Ghafar ◽  
Arsalan Ahmed ◽  
Nasir Ud Din
Keyword(s):  
Pediatric Population ◽  
Adult Population ◽  
Correct Diagnosis ◽  
Kaposi Sarcoma ◽  
Minor Component ◽  
Vascular Tumor ◽  
Giant Cells ◽  
Clinicopathological Characteristics ◽  
Multinucleated Giant Cells ◽  
Kaposiform Hemangioendothelioma

Abstract Background Kaposiform Hemangioendothelioma (KHE) is a rare vascular tumor of intermediate malignant potential which shows locally aggressive growth but only rarely metastasizes. It is mostly considered to be a tumor of pediatric population but its occurrence in the adults is not uncommon as once considered. Histologically, KHE can mimic other soft tissue neoplasms of different behaviors (e.g. Kaposi Sarcoma, hemangioma) and establishing the correct diagnosis is important for appropriate treatment. Herein, we describe the clinicopathological features of 8 cases of KHE which will be helpful in making their diagnosis. Methods We reviewed pathology reports, microscopy glass slides and obtained follow up information about 8 cases of KHE which were diagnosed at our institution from January 2008 till June 2020. Immunohistochemical stain for HHV8 was also performed. Results Age ranged from 7 months to 25 years. Seven patients were less than 20 years of age and one patient was 25 years old. Equal gender distribution was observed. Extremities were the most common sites of involvement, followed by head and neck, pancreas and ischiorectal region. 2 cases were resection specimen and all others were incisional biopsies. The largest tumor size was 5.5 cm in one of the resections. The incisional/fragmented tissues were all less than 5 cm in aggregate. Most cases showed predominance of nodular growth and a minor component of spindle cell population along with lymphangiomatosis like vascular channels, with evidence of microthrombi in 2 cases. Few multinucleated giant cells were observed in 2 cases. None of the cases exhibited significant nuclear atypia or mitotic activity. One of the cases arising in dermis showed underlying bone involvement. HHV8 was negative in 7/7 cases. Conclusions KHE can also involve adult population and it should always be considered in the differential diagnoses of a vascular lesion. Presence of multinucleated giant cells is a rare finding. Knowledge about histological features and potential mimics is helpful in avoiding misdiagnosis.

scholarly journals Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam’s Principle in an Adult with SBO

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Luis E. Aguirre ◽  
Robert A. Ali ◽  
Darcy A. Kerr ◽  
Mahsa Khanlari ◽  
Gilberto Lopes
Keyword(s):  
Small Bowel ◽  
Soft Tissues ◽  
Treatment Options ◽  
Muscularis Propria ◽  
Kaposi Sarcoma ◽  
Exploratory Laparotomy ◽  
Original Description ◽  
Vascular Tumor ◽  
Capillary Hemangioma ◽  
Kaposiform Hemangioendothelioma

Kaposiform hemangioendothelioma (KHE) is a rare and locally aggressive vascular tumor with histological features resembling Kaposi sarcoma and capillary hemangioma mainly occurring in children and adolescents. Approximately 200 cases have been reported since its original description in 1993, with the vast majority presenting at an early age as raised ill-defined lesions with a red-blue hue mainly involving the skin and soft tissues in the extremities. Cases in adults remain extremely rare. Herein, we describe the case of a 29 year-old man who presented with progressive abdominal pain for 4 months and signs of obstipation found to be consistent with small bowel volvulus. The patient underwent exploratory laparotomy and resection of 55 cm of necrotic small bowel followed by enteroenterostomy and anastomosis. Microscopic examination revealed KHE involving small intestinal mesentery, muscularis propria, and submucosa. His recovery was uneventful and he was discharged after stabilization, opting to manage him expectantly with abdominopelvic imaging and to monitor for development of Kasabach-Merritt phenomenon. To our knowledge, this represents the first reported case of this entity presenting as intestinal obstruction in an adult for which we also present a review of the existing literature and possible treatment options.

Kaposiform Hemangioendothelioma of the Thymus

2000 ◽  
Vol 124 (10) ◽  
pp. 1542-1544 ◽  
Author(s):  
Jennifer J. Wilken ◽  
Frederick A. Meier ◽  
Michael J. Kornstein
Keyword(s):  
Soft Tissues ◽  
Kaposi Sarcoma ◽  
Vascular Tumor ◽  
Capillary Hemangioma ◽  
Kaposiform Hemangioendothelioma ◽  
Recent Success ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Feeding Vessels ◽  
Formalin Fixed

Abstract Kaposiform hemangioendothelioma is a rare pediatric neoplasm that presents most commonly in the soft tissues. We report the case of a 1-month-old infant who presented with stridor and was found to have a diffusely infiltrating tumor in the thymus that extended into the pericardium and up the carotid sheaths. Histologic examination revealed a vascular tumor infiltrating among the lobules of the lymphocyte-depleted thymus. The lesion had features of both a capillary hemangioma and Kaposi sarcoma. Immunoperoxidase studies on formalin-fixed, paraffin-embedded tissue demonstrated the neoplastic endothelial cells to be positive for vascular markers CD31 and CD34. Antibody to factor VIII-related antigen labeled feeding vessels, but failed to stain the lobules of tumor. Although these tumors have been treated in a fashion similar to capillary hemangiomas in the past, it may be important to differentiate Kaposiform hemangioendotheliomas because of their association with Kasabach-Merritt syndrome and recent success with more aggressive chemotherapy regimens.

scholarly journals Repidly involuting congenital hemangioma

2021 ◽  
Vol 20 (1) ◽  
pp. 145-155
Author(s):  
L. A. Khachatryan ◽  
I. I. Chikvina ◽  
I. S. Kletskaya
Keyword(s):  
Complete Resolution ◽  
Infantile Hemangioma ◽  
Vascular Tumor ◽  
Pathological Process ◽  
Vascular Tumors ◽  
Consumption Coagulopathy ◽  
Kaposiform Hemangioendothelioma ◽  
Histological Characteristics ◽  
Congenital Hemangioma ◽  
Rapid Regression

Congenital hemangiomas are rare benign vascular tumors that develop in utero and are fully formed by the time of birth. Depending on the ability to involution, there are three subtypes: RICH (repidly involuting congenital hemangioma), NICH (non involuting congenital hemangioma), PICH (partially involuting congenital hemangioma). PICH may be accompanied by thrombocytopenia and consumption coagulopathy. Despite clearly defined clinical and histological characteristics, it can be difficult to make a differential diagnosis between congenital hemangiomas and other vascular tumors (infantile hemangioma, kaposiform hemangioendothelioma/“fascicular” angioma and others). The clinical case in the article of a vascular tumor in a newborn complicated by thrombocytopenia and consumption coagulopathy was regarded as Kazabach-Merritt syndrome, which is based on kaposiform hemangioendothelioma/“fascicular” angioma. Rapid regression of the tumor and recovery of hemogram and coagulogram parameters, as well as anamnesis of the disease and initial characteristics of the tumor forced to reconsider the diagnosis. Based on the histological picture, the diagnosis of congenital hemangioma, RICH, was confirmed. Verification of the diagnosis made it possible to change therapeutic tactics and avoid chemotherapy. A giant hemangioma, accompanied by thrombocytopenia and consumption coagulopathy, may have a very favorable outcome – a complete resolution of the pathological process inherent in its natural course. The patient's parents agreed to use the information, including the child's photo, in scientific research and publications. 

scholarly journals Pharmacokinetics of 13-cis-Retinoic acid in high-risk neuroblastoma patients

2020 ◽  
Vol 19 (4) ◽  
pp. 20-31
Author(s):  
E. A. Litvin ◽  
D. T. Utalieva ◽  
D. Yu. Kachanov ◽  
A. V. Pshonkin ◽  
M. Ya. Yadgarov ◽  
...  
Keyword(s):  
Retinoic Acid ◽  
High Risk ◽  
Medical Research ◽  
High Performance ◽  
Plasma Concentrations ◽  
Neuroblastoma Cells ◽  
Research Center ◽  
Therapeutic Drug ◽  
Pediatric Hematology ◽  
National Medical

13-cis-Retinoic acid is a differentiation agent for neuroblastoma cells and is a part of post-consolidation therapy for high-risk patients. The effectiveness of this therapeutic approach is currently under study. 26 patients with high-risk neuroblastoma treated at Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology were included in the study of 13-cis-Retinoic acid pharmacokinetics by high-performance liquid chromatography assay with ultraviolet detector depending on the method of administration of drug (swallowed capsules or opened capsules before administration). This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The current study showed that the therapeutic concentration of > 2 μM when taking 13-cis-Retinoic acid at a dose of 160 mg/m2/day was achieved in two groups, regardless of the method of drug administration. However, plasma concentrations of 13-cis-Retinoic acid at 4 hours after administration on the 14th day of therapy were higher in the group of patients who swallowed the capsules (4.1 ± 1.8 μM), compared to those who could not do it (1.9 ± 1.5 μM) (p = 0.022). The introduction into the clinical practice of therapeutic drug monitoring of 13-cis-retinoic acid in high-risk neuroblastoma patients with an assessment of peak concentration and dose adjustment of the following courses may be an important point in the attempt to optimize postconsolidation therapy and improve prognosis.

scholarly journals Non-spherocytic hemolytic anemia caused by erythrocyte pyruvate kinase defiiency: the analysis of genetic defects in pediatric patients, living in Russian Federation

2021 ◽  
Vol 20 (2) ◽  
pp. 84-96
Author(s):  
E. A. Cherniak ◽  
N. E. Sokolova ◽  
K. V. Semiglazova ◽  
I. N. Lavrentyeva ◽  
E. K. Donush ◽  
...  
Keyword(s):  
Medical Research ◽  
Hemolytic Anemia ◽  
Research Center ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Pediatric Hematology ◽  
Transfusion Independence ◽  
National Medical ◽  
Retrospective Data Analysis ◽  
Minimum Age

The article presents retrospective data analysis of a cohort of patients with PKD (n = 41 patients, aged 4 months – 26,5 years, median of age – 5 years 1 month) who were examined at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology for unspecifid hereditary hemolytic anemia during the period 2013–2020. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. In all patients, the diagnosis was confimed by Next Generation sequencing (NGS). The homozygous mutations in the PKLR gene were found in 10 patients (24.39%), compound heterozygous mutations in 31 patients (75.61%), 77.78% of them were missense mutations. Gender distribution (male:female) was 1:1.73. At least once transfusion of erythrocyte suspension was required to 40 (97.56%) patients. The minimum age at the time of the debut of transfusion dependence was the fist day of life, the maximum was 4 years. Exchange blood transfusion was performed in 13 children, severe normocytic hyperregenerative anemia with transfusion of red blood cells in the fist days of life was noted in 12 children, at the 1st month of life – in 9 children, at the 2nd month of life – in 8 children, at the 3rd month – in 6 children, at the 5th month – in 2 children, at the 1st year – in 1 child, and 2 children underwent single transfusions on the background of infectious episodes at 3 and 4 years respectively. Splenectomy due to high transfusion dependence was performed in 10 patients: transfusion independence was achieved in 5 patients, in 5 – an increase in the interval between blood transfusions. Median of surgical intervention (9 patients): 7 years 4 months, minimum age – 1 year 4 months, maximum – 14 years 4 months. In total, 36 genotypes were described in 41 patients, among them were: c.1529G>A in 3 patients, c.1137_1139del / c.1456C>T – in 2 patients, c.1079G>A/c.1529G>A in 2 patients, c.1130T>C/c.1456C>T in 2 patients, other genotypes occurred once. Two mutations were the most frequent: c.1456C>T (16.67%) and c.1529G>A (16.67%). 19 (46,34%) of patients had previously not described mutations.

EVALUATION OF THE SENSITIVITY AND SPECIFICITY OF THE PEDIATRIC BLEEDING QUESTIONNAIRE IN VARIOUS HEMORRHAGIC DISORDERS

2021 ◽  
Vol 100 (3) ◽  
pp. 35-41
Author(s):  
T.U. Yafoshkina ◽  
◽  
D.B. Florinskiy ◽  
A.V. Pshonkin ◽  
D.V. Fedorova ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Screening Method ◽  
Threshold Value ◽  
Discriminatory Ability ◽  
Pediatric Hematology ◽  
National Medical ◽  
Single Center Study ◽  
History Of ◽  
Laboratory Examinations

Determination of significant bleeding in the anamnesis is quite difficult, since mild mucocutaneous bleeding can occur both in patients with hereditary bleeding disorders and in healthy people. As a result, there is a growing interest among researchers and clinicians in accurate and objective quantification of hemorrhage symptoms. Objective of the study: to evaluate the effectiveness of the Pediatric bleeding questionnaire as a tool for identifying a group of children requiring further laboratory examination. Materials and methods of research: the study was a retrospective, uncontrolled, comparative, nonrandomized, single-center study. Based on the analysis of the database of the Consultive department of the Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology from January 2017 to December 2019, out of the total number of visits to doctors, patients under 18 years old who complained of increased bleeding were selected. The manifestations of hemorrhagic syndrome were evaluated using the pediatric bleeding scale – PBQ (Pediatric Bleeding Questionnaire), followed by a series of laboratory examinations to verify the diagnosis in all children. The sensitivity and specificity of this questionnaire was assessed at various threshold values using the ROC AUC curve, and a comparison of the scores on the scale in patients with different nosologies was made. Results: the study included 346 people, 174 were diagnosed, 172 had no data for coagulopathy/thrombocytopathy found – the patients were considered healthy. The discriminatory ability of the scale under study, studied using the ROC-AUC, was 0,815 (95% CI 0,772–0,858) – satisfactory. With a threshold value of pathological bleeding of 2 points, the sensitivity of the method was 98%, specificity – 12%. The best ratio of sensitivity and specificity (69% and 79%, respectively) was achieved when the threshold value was increased to 4 points. Conclusion: this questionnaire is a convenient addition, with the help of which it is easy to collect a history of bleeding, to assess the severity of bleeding, but it cannot be used as a screening method due to the large number of falsepositive results.

scholarly journals Clinical and molecular characteristics of WNT medulloblastomas

2019 ◽  
Vol 18 (4) ◽  
pp. 11-18
Author(s):  
L. I. Papusha ◽  
L. A. Yasko ◽  
A. P. Ektova ◽  
K. A. Voronin ◽  
A. A. Merishavyan ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Favorable Outcome ◽  
Molecular Characteristics ◽  
Total Resection ◽  
Pediatric Hematology ◽  
National Medical ◽  
Molecular Group ◽  
International Data ◽  
Disease Free

WNTMBaccounts for about 10% of all medulloblastomas and have a favorable outcome in patients under 16 years according international data. We analyzed clinical and molecular characteristics of 20 patients with WNTMBpatients. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The molecular group verification was performed by Nanostring gene expression profiling. The detection of CTNNB1 and TP53 gene mutations was carried out with Sanger sequencing. WNT Medulloblastoma are mainly classic (18/20 patients), non-metastatic (19/20 patients). Gross total resection was performed in 18 patients. Somatic CTNNB1 mutations were found in 17 patients, somatic TP53 were identified in 2 patients. 19/20 assessable patients are disease-free with a median follow-up of 23 months. One patient died from the progression of the disease. WNT MB patients have an overall favorable outcome, even for metastatic and TP53 positive tumors. The reduction in the intensity of therapy is indicated forWNTMB in case of reliable identification ofWNTMB.

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