Extramedullary Hematopoietic Tumor Research Articles

Esplenectomía por tumor hematopoyético extramedular esclerosante del bazo

Extramedullary hematopoietic tumors are rare and characterized by the presence of hematopoietic elements at various stages of maturity, atypical megakaryocytes, and fibroblastic proliferation. We report the case of a patient with sclerosing extramedullary hematopoietic tumor of the spleen.The patient was 71-year-old man with a history of hypertension, diabetes, and hepatitis C virus infection. Multiple spleen lesions were identified in imaging tests during workup due to abdominal discomfort. Although a vascular tumor was suspected, laparoscopic splenectomy was decided after considering other possible causes. The pathology examination revealed a sclerosing extramedullary hematopoietic tumor of the spleen, which was confirmed by immunohistochemical tests. These tumors are usually single or, less frequently, multiple lesions affecting different organs and are associated with chronic myeloproliferative syndromes. The histologic confirmation is mandatory due to their similarity to malignant tumors. Extramedullary hematopoietic tumors are rare, and there is little scientific clinical evidence regarding their diagnosis and management. The histological confirmation is mandatory due to their similarity to malignant tumors.

TUMORAL EXTRAMEDULLARY HEMATOPOIESIS IN MEDISTINUM - CASE REPORT AND REVIEW OF RELEVANT DOCUMENTATION

Extramedullary Hematopoiesis (EMH) is the expansion of stem cells, hematopoieticprogenitor cells and their differentiation outside the bone marrow. This condition occursas a compensatory mechanism for the ineffective hematopoiesis of the bone marrow.Pathological EMH is triggered by hematopoietic disorders and other pathologicalstress conditions, such as infections, malignant tumor, anemia, and metabolicdisorders. Pathological EMH has been reported to occur in many organs, and sitesof pathological EMH may be involved in reactivation of embryonic hematopoieticstructures in these organs. Pathological EMH has been extensively studied in recentyears. In particular, pathological EMH caused by end-stage malignancy contributesto tumor immunosuppression. Thus, a deeper understanding of the mechanism ofpathological EMH could be beneficial for the development of therapies against tumordevelopment processes.We report a rare case of an extramedullary hematopoietic tumor in the mediastinum,diagnosed by histopathology, for reference to colleagues.

Sclerosing Extramedullary Hematopoietic Tumor: A Case Report

Sclerosing extramedullary hematopoietic tumor (SEMHT) is a rare disease that was originally named fibrous hematopoietic tumor or myelosclerosis. The process typically occurs in patients with a history of chronic myeloproliferative disorders and may afflict the skin, lung, breast, gastrointestinal tract, breast, kidney, lymph node, and thyroid gland. In this article, we report the case of a 37-year-old female with more than 5 years history of acute B-cell lymphoblastic leukemia who presented with right upper quadrant pain and tenderness. Computed tomography scan showed multiple new ring-enhancing low-density lesions within the right and left hepatic lobes. A computed tomography–guided liver core biopsy was performed on one of the new liver lesions and showed extramedullary hematopoiesis with atypical megakaryocytes and sinusoidal capillarization with associated fibroblastic proliferation. Numerous atypical megakaryocytes were scattered in the background of haphazard collagen deposition. No significant blasts or a leukemic process were identified. Bone marrow aspiration and biopsy showed extensive reticulin fibrosis (MF-3), trilineage dysplasia, increased blasts (10% to 19%), and hypercellularity (close to 100%), which was consistent with MDS-EB-2. Cytogenetics was reported as follows: 44~46,XX,-3,add(3)(p13),-5,-6,-7,17,del(17)(p12),+1~5mar[cp9]/46,XX. Molecular analysis was negative for both JAK2 V617F and CALR exon 9 activating mutations. In summary, we contributed a new case of SEMHT diagnosis in a synchronous presentation with poor clinical evolution associated chromosome 7 deletion and intact JAK2 and CALR exon 9. Care should be taken when diagnosing intraabdominal and retroperitoneal soft tissue masses with the history of hematological disorders.

Hepatitis C Virus Infection, but Not Hepatic Iron Overload Is the Dominant Risk Factor for the Manifestation of Hepatocellular Carcinoma Among Greek Thalassemic Patients

▪Background: Effective iron chelation and other supportive treatment have a substantial impact on survival prolongation of thalassemic patients, who may reach late adulthood, and therefore, may manifest various neoplastic disorders. However, no systemic analysis of the prevalence of neoplastic disorders in this patient population has been performed.Aims: We systematically analyzed all cases of malignant neoplastic disorders, occurred in a large cohort of Greek thalassemic patients and investigated for possible underlying predisposing factors.Patients and methods: Data of 3652 patients with hemoglobinopathies (Group I: beta-thalassemia homozygous N=1981, Group II: thalassemia Intermedia N=746, Group III: sickle-cell disease +/- beta-Thalassemia n=751, Group IV: hemoglobinopathy-H N=174) were retrieved, followed up at 24 specific Hospital Units, between 1985 and 2018. Totally, 165 cases of a malignant disorder were identified (overall prevalence 4.52%). The significance of the following predisposing factors was investigated: familial history of neoplasia, occupational exposure to known mutagens, previous autoimmunity, previous splenectomy, tobacco smoking, alcohol use, HBV, HCV or HIV infection, iron overload, hydroxyurea treatment, previous irradiation for extramedullary hematopoietic tumors and systemic use of androgens/estrogens.Results: Patients were 84 males and 81 females with a median age at diagnosis of the neoplastic disorder of 45 years (range 9-73 years). Higher prevalence of neoplasia was noted among patients of Groups I and II (4.99% vs 3.03% among patients of Groups III and IV, p<0.05). Table 1 shows histological diagnosis of the 165 neoplastic disorders, of which 139 (84.2%) were solid tumors and 26 (15.8%) hematological malignancies. The dominant malignancy was hepatocellular carcinoma, diagnosed in 63 patients, followed by thyroid cancer (17 cases), non-Hodgkin's lymphoma (13 cases), and renal cell carcinoma (10 cases). There was a strong positive association between hepatitis C virus infection and hepatocellular carcinoma, and a negative one between HCV infection and thyroid and renal cancer. Active HCV infection was found in 81 patients (49.1%) compared to an estimated prevalence of about 25% among the whole thalassemic patient population. Hepatocellular carcinoma was more frequently diagnosed in men (M/F ratio 1.86) of the fourth and fifth decade (median age 45 years) with thalassemia homozygous or intermedia (89% of the cases), with long-standing, untreated HCV infection (76%), irrespective of the burden of hepatic iron load, estimated with MRI T2*. Indeed, no difference in the occurrence of hepatocellular carcinoma, as well as of any other type of cancer was found, in relation to Liver Iron Concentration (LIC). Moreover, no preponderance of any HCV genotype was identified, but interestingly, all 1b HCV genotype-associated neoplasms were hepatocellular carcinoma (7 cases). Finally, no association between any of the remaining potential risk factors with the manifestation of any specific neoplastic disorder was observed.Discussion: In our large thalassemic patient cohort, representative of the whole country of Greece, we have identified increased prevalence of four types of cancer. Besides hepatocellular carcinoma, we have unexpectedly encountered high prevalence of thyroid and renal cancer, as well as of all types of lymphomas. These primary findings deserve further investigation, since, excluding hepatocellular carcinoma, no prominent or speculative causality can be currently attributed for the remaining malignancies. [Display omitted] DisclosuresKattamis:Vifor Pharma: Consultancy; ApoPharma: Honoraria; CELGENE: Consultancy, Honoraria; Novartis: Consultancy, Honoraria.

Intrathoracic extramedullary hematopoiesis presenting as tumor-simulating lesions of the mediastinum in α-thalassemia: A case report.

Extramedullary hematopoiesis (EMH) is a rare disease, where hematological disorder drives extramedullary hematopoietic tumor formation in multiple regions of the body. The present study reports a case of EMH presenting as multiple tumor-like lesions of mediastinum in a 61-year-old male with α-thalassemia, which was subjected to a video-assisted thoracoscopic surgery tissue biopsy to differentiate it from other mediastinal tumors. To date, only three cases of EMH in patients with α-thalassemia have been described in the literature. Patients with EMH typically exhibit no hematological disorder preoperatively and therefore EMH is frequently misdiagnosed. In the present study, along with a literature review of the clinicopathological features of EMH, the diagnosis and treatment of this rare case was discussed, in order to differentiate diagnosis, and particularly to distinguish EHM from extramedullary myeloid sarcoma.

Sclerosing Extramedullary Hematopoietic Tumor Mimicking Intra-abdominal Sarcoma.

Sclerosing extramedullary hematopoietic tumor (SEMHT) is a rare tumor that occurs in patients with chronic myeloproliferative disorders (CMPDs). The tumor is classified in the chronic idiopathic myelofibrosis (MF) subgroup, and cases have been reported at various localizations since 1980 [1-4]. Such tumors are usually seen in the abdominal organs, retroperitoneum, and mesenteric region [3]. The clinical, radiological, and morphological features may complicate differentiation from sarcoma, carcinoma, and lymphoma. It is sometimes also difficult to differentiate between a SEMHT and extramedullary hematopoiesis (EMH). These two lesions have similar clinical features, but EMH is morphologically more cellular. To aid in the differentiation, SEMHT has a more solid mass appearance with dense fibrosis and atypical megakaryocytes [3]. EMH is the presence of hematopoietic tissue in locations other than the bone marrow. The basic mechanism is bone marrow dysfunction and decreased production of hematopoietic cells, followed by production of bone marrow cells in other organs and tissues. EMH is seen in many disorders such as sickle cell anemia, hemoglobinopathies, thalassemia, hereditary spherocytosis, and MF [5]. EMH is most commonly observed in the liver and spleen and is rarely found in the peritoneum, lymph nodes, kidneys, thymus, central nervous system, retroperitoneum, myocardium, uterus, pleura, paraspinal region, or intestines [6-9].

Révélation à l’âge adulte d’une sphérocytose héréditaire devant une tumeur rénale : forme frontière entre myélolipome et foyer d’hématopoïèse extra-médullaire

IntroductionMyelolipomas and extramedullary hematopoietic tumors are uncommon benign tumors. They are variably composed of mature adipose tissue and hematopoietic tissue. Myelolipoma is usually observed in the adrenal gland and extramedullary hematopoietic tumors in the liver and spleen but may occasionally be found within solid tumors. Case reportA 62-year-old man without previous haematological history presented with a voluminous solitary bilateral renal tumor. Contrast-enhanced ultrasound CT-scan and scintigraphy with technetium-99m-nanocolloid and indium-111-chloride bone marrow were highly suggestive of extramedullary hematopoietic tumor. CT-guided biopsy suggested a diagnosis of myelolipoma. An atypical hereditary spherocytosis, undiagnosed until now, was demonstrated. ConclusionWe report, for the first time to our knowledge, a border form between extramedullary hematopoiesis tumor and myelolipoma of renal localisation revealing a hereditary spherocytosis in an adult patient.

Optic Atrophy in Thalassemia Intermedia

A 21-year-old man with thalassemia intermedia presented with progressive decrease in vision and was found to have severe bilateral optic atrophy. Orbital and brain neuroimaging revealed massive diffuse expansion of the diploe of the craniofacial bones, narrowing of the optic canals, and expansion of hematopoietic tissue in the sellar region with compression of the optic chiasm. Although increased bone marrow is a well-known consequence of thalassemia, optic atrophy due to and such marked extramedullary expansion of hematopoietic tissue is a very rare phenomenon. Decompression of extramedullary hematopoietic tumors from thalassemia may be achieved with blood transfusions alone without the need for radiation or surgery. These findings suggest careful periodic ophthalmic examination of thalassemic patients.

Beta-Thalassemia Presenting as an Acute Neurological Complication: A Case Report

Beta-thalassemia is an inherited defect in the rate of synthesis of one or more beta-globin chains of hemoglobin resulting in anemia, hemolysis and ineffective erythropoeisis. Extramedullary hematopoietic tumors may develop in extreme cases of dyserythropoiesis. Acute neurological complications in patients with beta-thalassemia have been reported in association with cerebral ischemia, spinal cord fractures and compression from extramedullary hematopoietic tumors. However extramedullary hematopeietic tumors in the setting of acute blood loss leading to neurological complications have never been reported. We report this case of a 27-year-old woman with beta-thalassemia who presented with acute neurological deficit during immediate postoperative period of cesarean section associated with significant drop in hemoglobin. The Magnetic Resonance Imaging of the thoracic and lumbosacral spine revealed compressive intra-spinal and para-spinal extra-medullary hematopoietic tissue. Patient’s symptoms improved dramatically with conservative management. doi:10.4021/jmc133w

Extramedullary hematopoietic tumor mimicking a thoracic nerve root schwannoma

Extramedullary hematopoiesis secondary to chronic anemia is well reported throughout the literature. A rare presentation of this condition is in the central nervous tissue reported most frequently as an epidural mass causing spinal cord compression. The authors report the case of a 51-year-old man with beta-thalassemia and chronic anemia who was found to have a 4-cm paravertebral mass suggestive of a schwannoma. The patient underwent transthoracic resection of the mass. Histological examination confirmed an extramedullary hematopoietic tumor. In this article the authors propose a method to distinguish extramedullary hematopoietic tumors from schwannomas. To the authors' knowledge, this is the first reported case in the neurosurgical literature of this phenomenon.

Postsplenectomy Sclerosing Extramedullary Hematopoietic Tumor With Unexpected Good Clinical Evolution

Sclerosing extramedullary hematopoietic tumor has been described as a rare manifestation of chronic myeloproliferative neoplasm. The lack of knowledge about this entity has caused it to be mistaken for many types of nonhematopoietic and hematopoietic tumors. We present the case of a 71-year-old lady with a long history of primary myelofibrosis, which developed multiple abdominal sclerosing extramedullary hematopoietic tumors with good clinical evolution. Nonchronic myeloid leukemia myeloproliferative neoplasm included a JAK2 mutation as part of the diagnosis algorithm. Particularly, idiopathic myelofibrosis is related with a JAK2 mutation in 50% of the cases with a pejorative prognosis. The absence of JAK2 demonstrated in the paraffin samples of the tumors may be related to the unusual evolution in this particular case. Morphologically differential diagnoses considered in the evaluation of this entity and in our case included sarcomas mainly liposarcoma, anaplastic carcinoma, and Hodgkin lymphoma.

Paraspinal extramedullary hematopoiesis in patients with thalassemia intermedia

Ineffective erythropoiesis in patients with thalassemia intermedia drives extramedullary hematopoietic tumor formation in several parts of the body. Paraspinal involvement has received increasing attention due to the associated morbidity secondary to spinal cord compression. Although the history and physical examination may help narrow the differential diagnosis, radiographic imaging remains essential to confirm the existence of hematopoietic tissue. Characteristic appearance has been observed mainly on magnetic resonance imaging. Several treatment options have been described, including transfusion therapy, laminectomy, radiotherapy, and the use of fetal hemoglobin inducing agents that decrease the hematopoietic drive. However, the ideal management scheme remains controversial. Until large prospective trials evaluate the efficacy and safety of the available treatment options, both in single and in combination therapy, an individualized approach should be entertained.

Sclerosing extramedullary hematopoietic tumor: emphasis on diagnosis by renal biopsy

Sclerosing extramedullary hematopoietic tumor (SEMHT) is a rare lesion that typically arises in patients with chronic myeloproliferative disorders. Morphologically, it exhibits atypical megakaryocytes, granulocytic precursors, and erythroid precursors set in a background of dense collagen sclerosis. Sclerosing extramedullary hematopoietic tumor may be easily mistaken for other neoplasms, such as sarcoma, carcinoma, or Hodgkin lymphoma, particularly if pertinent clinical history is not provided. Misdiagnosis may occur because of the difficulty in recognizing the megakaryocytic lineage of the atypical cells and because of the paucity of other hematopoietic elements. We report a case of a 72-year-old man with proteinuria and renal insufficiency who underwent renal biopsy to determine the etiology of the proteinuria. The kidney biopsy demonstrated an unusual tumor in which the initial morphological impression that of sclerosing liposarcoma. However, upon learning of the patient's previous history of chronic idiopathic myelofibrosis and with the aid of immunohistochemistry, the correct diagnosis of sclerosing extramedullary hematopoietic tumor was made. Sclerosing extramedullary hematopoietic tumor should be considered in the differential diagnosis when percutaneous renal biopsy or other intra-abdominal biopsy reveals a sclerotic lesion with interspersed large atypical cells, especially in a patient with a history of chronic myeloproliferative disorder.

Bilateral Lacrimal System Involvement by Sclerosing Extramedullary Hematopoietic Tumor

A 60-year-old man with myelofibrosis and extramedullary hematopoiesis was referred for evaluation of "swollen lacrimal glands." Examination disclosed bilateral firm, immobile, nontender masses in the lacrimal sac fossa with no associated signs of inflammation. MRI of the orbits disclosed lobulated enhancing mass lesions involving the lacrimal sacs and nasolacrimal ducts bilaterally, with bony scalloping of the lacrimal sac fossa and expansion of the bony walls of the nasolacrimal ducts. Incisional biopsy and subsequent debulking of the tumors confirmed sclerosing extramedullary hematopoiesis lesions. To the authors' knowledge, involvement of the lacrimal drainage system with such tumors has not been previously described.

Bilateral thoracic extraadrenal myelolipoma

Myelolipoma commonly occurs in the adrenal gland and is composed of both adipose tissue and normal hematopoietic elements. Extraadrenal myelolipoma may occur in the retroperitoneum, stomach, liver, lung, and in 3% of cases even in the mediastinum. We present a 65-year-old female patient with unspecific clinical symptoms. Routine chest roentgenograms revealed bilateral widening of the posterior mediastinum. Computed tomography showed bilateral, paravertebral lesions of 4.5 and 6.5 cm in diameter, respectively. After surgical removal, bilateral thoracic myelolipoma was pathomorphologically diagnosed. The imaging differential diagnosis of bilateral solid lesions in the posterior mediastinum including lymph node metastases, lymphomas, neurogenic tumors and extramedullary hematopoietic tumors is discussed.

Extramedullary Hematopoietic Tumors of the Posterior Mediastinum Related to Asymptomatic Refractory Anemia

Two asymptomatic paravertebral thoracic masses occurred in a 65-year-old patient with isolated macrocytosis. The largest one measured 8 cm and was surgically resected with a presumptive diagnosis of schwannoma. This thoracic mass was hemorrhagic, encapsulated, and composed of fat and hematopoietic tissue. While extramedullary hematopoietic tumors usually occur in patients with severe chronic hemolytic anemia, our report suggests that such lesions must be considered in the differential diagnosis of posterior mediastinal mass in patients without clinical evident anemia.

Extra-adrenal myelolipomas compared with extramedullary hematopoietic tumors

A large presacral myelolipoma associated with increasing constipation is reported in a 70-year-old obese diabetic female. The resected tumor was encapsulated and dark red to yellow. Light and electron microscopy revealed mature and immature hematopoietic tissue, lymphoid aggregates and mature adipocytes. Myelolipomas arising in extra-adrenal sites are rare. Considered in the differential diagnosis are reactive extramedullary hematopoietic tumors that usually occur in patients with severe chronic anemias. Patients with extramedullary hematopoietic tumors are characterized by anemia, frequent hepatosplenomegaly and abnormal peripheral blood smears, and may be any age. The tumors are usually multiple and usually located in the mediastinum or epidural space. In contrast, patients with extra-adrenal myelolipomas are usually older than 40 years, have normal blood studies, absent hepatosplenomegaly, and usually have chronic debilitating diseases or endocrinopathies. Extra-adrenal myelolipomas are single and usually occur within the abdomen. Extramedullary hematopoietic tumors have a predominance of the hematopoietic component, with erythroid hyperplasia of that component. Extra-adrenal myelolipomas may have a predominance of either the hematopoietic or fatty component, chiefly the latter, and generally have a more conspicuous lymphocyte population. Although the components of these tumors are the same, we consider them separable clinically, pathogenetically and, in many cases, pathologically.