Spinal epidural granulocytic sarcoma preceding acute myelogenous leukemia.

A rare case of spinal epidural granulocytic sarcoma (GS) preceding acute myelogenous leukemia is described. A 10-year-old boy presented with lower leg weakness. The initial diagnosis was a histiocytic lymphoma, and he was treated accordingly. No evidence of bone marrow involvement was found at that time. The correct diagnosis of epidural GS was made possible in retrospect by using immunoperoxidase staining for lysozyme fourteen months later when the patient showed the full-blown features of leukemia. This rare tumor should be considered in the differential diagnosis of an epidural mass with cord compression in patients with or even without acute leukemia, because early diagnosis followed by appropriate combined chemotherapy and radiation may obviate surgical intervention and eventually prevent leukemic transformation.     

Pure epidural cavernous hemangioma of the cervical spine that presented with an acute sensory deficit caused by hemorrhage

Pure epidural cavernous hemangioma of the spine without vertebral involvement is rare. Due to the slow growth of this lesion, the most common symptoms are chronic pain, myelopathy, and radiculopathy. In our case, the patient complained of an acute onset sensory deficit of the C4 dermatome. An MRI revealed an epidural mass with an acute hematoma. Here, we report a case of a pure epidural cavernous hemangioma that presented with acute neurologic symptoms caused by intralesional hemorrhage and an acute epidural hematoma, which were demonstrated on the patient's MRI.     

Granulocytic sarcoma of the ovary. An unusual case presentation

We report an unusual occurrence of granulocytic sarcoma presenting as an ovarian mass in a 46-year-old woman with a history of dysplastic nevus syndrome. During workup of the ovarian mass, the diagnosis of acute myelogenous leukemia was made. A fine-needle aspirate of the ovarian mass showed granulocytic sarcoma. The patient died of complications of the acute leukemia a short time later. A postmortem examination was performed, which confirmed the nature of the ovarian mass as a granulocytic sarcoma. Material was obtained for flow cytometry, immunohistochemical and histochemical studies, and electron microscopy. Ploidy analysis of the tumor showed it to be diploid with an S phase of 4.8% and a G2 + M ratio of 0.5%. To our knowledge, there is only one previous report of a primary ovarian presentation of granulocytic sarcoma, and only four cases in which granulocytic sarcoma was diagnosed by fine-needle aspiration cytology. The association between dysplastic nevus syndrome and acute myeloid leukemia in this case is discussed with reference to a review of the metachronous association between melanoma and leukemia as described in the literature.     

Intimal sarcoma of the aorta: a case report

Primary aortic tumours are very rare. To our knowledge, only 120 cases had been reported in the world literature. Their clinical presentation is not specific. They are usually diagnosed at aortic surgery or by post-mortem examination. Intimal sarcoma is the most frequent histological type. We report a case of intimal sarcoma of the thoracic aorta diagnosed on autopsy of a 48-year-old man victim of sudden death. The main problem raised by intimal sarcoma lies in its poor differentiation or lack of differentiation. Thus, the pathologist must perform a phenotypic analysis as complete as possible of this tumor.     

T-cell acute lymphoblastic leukemia with add(1)(p36) and del(12)(p11) following acute myelocytic leukemia with partial deletion of 9p

We describe the case of a 40-year-old man whose disease was initially diagnosed as acute myelocytic leukemia. The patient achieved remission with chemotherapy, but relapsed shortly afterwards with an acute T-cell lymphoblastic leukemia. He died of intracranial bleeding. Karyotyping analysis showed a del(9p?) as a common abnormality in the leukemic cells at onset and relapse. Fluorescence in situ hybridization analysis demonstrated allelic loss of the CDKN2A gene in cells from both stages of the disease. At relapse the leukemia cells had additional abnormalities such as add(1)(p36) and del(12)(p11). We postulate that the loss of CDKN2A is involved in leukemogenesis but does not determine the lineage of the leukemic cells. Instead, abnormalities of genes at 1p36, 12p11, or both may be involved in driving a lymphoid phenotype.     

Preleukemic granulocytic sarcomas of the gastrointestinal tract. Report of two cases.

Granulocytic sarcoma, or chloroma, is a tumor composed of immature cells of the myeloid series, which usually occurs as a secondary manifestation of acute myelocytic leukemia. Unique problems in interpretation of these lesions arise when the leukemic picture is absent in peripheral blood and bone marrow. In these cases, granulocytic sarcoma is usually misinterpreted as "reticulum cell sarcoma". Two cases of this neoplasm involving the small intestine and stomach, are reported. Signs of leukemia appeared terminally. The value of cytochemical stains in the differential diagnosis and the possible benefits of early recognition and treatment are emphasized.     

Primary cardiac sarcoma in pregnancy: a case report

Primary cardiac sarcoma is a rare disease in adults. It is also associated with poor prognoses, due to diagnostic delay, therapeutic difficulty, and high metastatic potential. The coincidence of pregnancy and a primary cardiac intimal sarcoma is extremely rare. We report a pregnant woman at 27(+5) weeks gestation who was admitted to the hospital with acute-onset dyspnea. A mass was found on the left atrium by transthoracic echocardiography. Subsequently, the intracardiac mass was removed, and mitral valve replacement and modified DeVega tricuspid annuloplasty were performed. The patient was diagnosed with a undifferentiated sarcoma, and gave birth to a 1,230 g living baby boy by Caesarean section from preterm contraction at 29(+5) weeks gestation. The patient then received systemic chemotherapy. However, 10 months after the initial clinical onset, the patient suddenly died. Surgery is the standard treatment for cardiac tumors, and their removal should always be attempted, even in pregnant women. Although the overall survival rates of the patients are rather poor, palliative cardiac surgery allows the prolonging of pregnancy, until an acceptable fetal viability level is reached.     

Sacral intraspinal bronchogenic cyst: a case report

Intraspinal bronchogenic cysts are rare congenital cystic lesions. In all the reported cases, the cysts have been located in the cervical, upper thoracic or thoracolumbar segments. We report the case of an intraspinal bronchogenic cyst in the sacral location. We present the case of a 5-month-old female with a skin dimple in the midline over the sacral vertebra. Magnetic resonance image of the lumbar and sacral vertebra revealed a dermal sinus tract and an epidural cystic mass at the S2 level. The patient underwent the removal of the dermal sinus tract and the cyst. The cystic mass was shown to be connected to the subarachnoid space through a slender pedicle from the dura. The cyst was diagnosed to be a bronchogenic cyst based on the results of the histopathological examination. We conclude that intraspinal bronchogenic cysts may appear in the sacral location.     

Nonleukemic granulocytic sarcoma of kidney with mixed phenotype blasts: a diagnostic dilemma

Granulocytic sarcoma (GS) usually presents concomitantly with or after the onset of acute myeloid leukemia, blastic phase of chronic myeloid leukemia (CML), or myelodysplastic syndromes. Rarely, it may present even before the onset of overt leukemia and when so, it is often misdiagnosed. We are reporting a case of GS of kidney presenting as an isolated renal mass with normal laboratory investigations including a normal peripheral blood smear. It was initially misdiagnosed as lymphoma as the blasts, in addition to the morphological similarity with lymphoma cells, also showed positive immunohistochemistry for B cell markers. Based on further investigations including immunophenotyping and cytogenetic studies, a final diagnosis of CML-blast crisis (mixed phenotype) presenting initially as GS was made. To the best of our knowledge, this is the first antemortem report of nonleukemic GS presenting as kidney mass that later on progressed to CML-blast crisis with mixed phenotype blasts.     

Ectopically produced calcitonin in human hemoblastoses

Summary The incidence of elevated serum levels of immunoreactive calcitonin (CT) in human myeloproliferative and lymphoproliferative disorders was investigated. On the basis of twice the normal range, about 45% of patients with acute leukemia and blast crisis of chronic myelocytic leukemia (CML) showed elevated serum levels of CT. Markedly elevated levels (> 1,000 pg/ml) were only found in this group. Since immunoreactive CT dropped to normal or only slightly elevated levels in remission and increased again before or during relapse, serum CT levels seem to reflect the activity of the disease. However, in patients with chronic leukemia, Hodgkin's and non-Hodgkin's lymphoma, a lower incidence and only slightly elevated serum values were found. In addition, the molecular weight of the proteohormone in serum specimen and cell extracts was investigated by gel chromatography. Besides physiological CT, different high-molecular weight forms of the hormone could be demonstrated in serum and in cell extracts. Extracts of leukemic cells revealed higher molecular forms only. It is suggested that the proteohormone is ectopically produced by leukemic cells.

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Abbreviations AML Acute myelocytic leukemia - AMoL Acute myelomonocytic leukemia - CML Chronic myelocytic leukemia - ALL Acute lymphoblastic leukemia - AUL Acute undifferentiated leukemia - NHL Non-Hodgkin's lymphoma - CLL Chronic lymphocytic leukemia     

Intracranial granulocytic sarcoma (chloroma) in a nonleukemic patient.

Chloroma is a granulocytic sarcoma with it''s characteristic greenish color. Recently there is an increased number of cases that are apparently aleukemic when the tumor mass is first presented. Recently we experienced a case of granulocytic sarcoma with characteristic green color (chloroma), which showed no evidence of leukemia in the bone marrow and peripheral blood. This patient presented headache, and was diagnosed brain tumor on computed tomography. A left parietal cranietomy was done to remove a large central dome-like mass, 8 cm, involving the dura with a slightly dusky greenish solid appearance. Compact nests of moderately mature granulocytes and immature cells comprised the tumor. Histochemical and electron microscopic studies confirmed these tumor cells as myeloid cells in varying stages of maturation. Several days after the operation, left cervical lymph nodes became palpated, and the biopsied lymph nodes revealed same neoplastic cells seen in the skull. However, bone marrow aspiration, biopsy and peripheral blood smears did not show any evidence of leukemia.     

Spinal epidural metastasis of cerebral oligodendroglioma

A 50-year-old male patient with right frontal oligodendroglioma underwent subtotal resection on three separate occasions and, 10 months later, exhibited right frontal oligodendroglioma and extracranial metastasis. Spinal magnetic resonance imaging (MRI) demonstrated the existence of an enhancing mass lesion with evidence of posterior epidural compression at the 10th-11th thoracic level, not involving the vertebrae. A bone scan of the spine appeared normal, but showed evidence of hot uptake in the pelvis and femur. This report concerns a patient who developed a fatal and clinically unexplained, pancytopenia 3 months after the removal of a spinal epidural oligodendroglioma. Oligodendroglioma with metastasis outside the central nervous system is extremely rare, and only a few cases have previously been reported. A brief review of the literature with an emphasis on the mechanisms of tumor cell dissemination is presented.     

Subscapular elastofibroma intermingled with adipose tissue: variant type of elastofibroma or lipoma?

Elastofibroma is a rare entity most commonly seen in subscapular region. Elastofibrolipoma was first described by De Nictolis et al (Am J Surg Pathol. 1995;19:364-367) as a capsulated mass, composed of mature fat, abnormal elastic fibers, and connective tissue, at the anterior mediastinum. A 57-year-old woman with a periscapular pain and a mass at the left subscapular region was admitted at the department of thoracic surgery. Histologic sections of the well-circumscribed 6.5 x 5 x 3.5-cm rubbery mass revealed a collagenous stroma containing eosinophilic globules and fragmented fibers intermixed with mature adipose tissue surrounded by a thin fibrous capsule. The elastic nature of these eosinophilic fibers and globules was confirmed with Verhoeff's elastic stain. The lesion was diagnosed as elastofibrolipoma, a recently recognized lesion with an unclear origin. Here we discuss if it is a variant of elastofibroma or lipoma.     

Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level

Fragile sites are specific regions of chromosomes prone to breakage when cells are cultured under specific conditions. These sites are divided into two classes: common and rare. Common fragile sites are expressed in all individuals at different frequencies, whereas rare ones are found only in certain individuals. Common and rare fragile sites have been shown to display a number of characteristics of instability being preferential sites for chromosomal deletions, duplications, and rearrangements. Moreover, a majority of mapped oncogenes are located at or near these fragile sites. These observations have led to the suggestion that both classes of fragile sites may play a significant role in chromosomal rearrangements involved in oncogene activation or tumor supressor gene inactivation. For these reasons, involvement of common and rare fragile sites and their relevance to specific chromosome breakpoints in cancer have received much attention. In this study, which reports on the cytogenetic findings obtained from 256 patients with chronic myelocytic leukemia, 103 with acute myelocytic leukemia, 40 with acute lymphocytic leukemia, 33 with myelodysplastic syndrome, we documented the fragile sites involved in chromosomal aberrations involving oncogenes, tumor supressor genes, and other known genes important in cell cycle regulation localized at these sites.     

A case of myeloid sarcoma diagnosed by FISH

Myeloid sarcoma (MS) is a tumor mass of myeloblasts or immature myeloid cells occurring in an extramedullary site or in bone. The tumor mass may precede or occur concurrently with acute or chronic myeloid leukemia or with other types of myeloproliferative disorders or myelodysplastic syndromes. MS is a rare disease, estimated to comprise between 2 to approximately 14% of acute myeloid leukemia. On the other hand, 95% of cases of CML have characteristic t (9;22) cytogenetic abnormality and BCR/ABL fusion gene at diagnosis. We here report the clinical significance of FISH in a diagnosis of MS that formed tumor in femur during the chronic phase of CML.     

Ovarian granulocytic sarcoma as the primary manifestation of acute myelogenous leukemia

Granulocytic sarcoma (GS) usually occurs concomitantly with or after the onset of acute myeloid leukemia (AML) or other myeloproliferative disorders, however, GS of the ovary as the primary manifestation of AML is exceedingly rare. To the best of our knowledge, eight cases of ovarian GS as the first sign of AML have been reported in the literature. Here, we report the ninth case: a 27-year-old female who presented with an ovarian mass without any underlying hematologic disorder. A high index of suspicion aided by immunohistochemistry established the correct diagnosis of undifferentiated GS that involved the ovary. Simultaneously, laboratory findings indicated that the blood counts continually increased after surgery. Five days after the surgery, bone marrow biopsy confirmed the presence of AML. After establishing the diagnosis, the patient was sent to the hematology department to receive cytosine arabinoside and idarubicin chemotherapy. This report outlines an exceedingly rare case of AML that initially manifested as an ovarian GS. Awareness of this entity will enable earlier diagnosis and appropriate treatment.     

A 15-year-old female with progressive myelopathy

March 2005. A 15-year-old female presented with urinary retention, inability to walk and low back pain. MRI disclosed an elongated epidural mass in the thoracic spine with cord compression and invasion into the surrounding bone and soft tissue. Cytologic preparation at intraoperative consultation disclosed a rather monotonous small tumor cells with hyperchromatic nuclei and vacuolated cytoplasm. These vacuoles were best visualized with DiffQuick stain. Pathologic studies revealed an Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) with typical features including periodic acid Schiff positive diastase sensitive cytoplasmic substance; strong membranous pattern of immunoreactivity for CD99, and a reciprocal translocation of t(11;22)(q24;q12) that was demonstrated by fluorescent in situ hybridization (FISH). The vacuolated cytoplasm was produced by glycogen as demonstrated by electron microscopy. Although primary vertebral EWS/pPNETs are uncommon, they should be considered in the differential diagnoses of extradural/epidural mass of the spine in young patients.     

Deletion of chromosome 15 represents a rare but recurrent chromosomal abnormality in myelocytic malignancies

We report on three cases with myelocytic malignancies cytogenetically characterized by a deletion of chromosome 15 occurring as the sole cytogenetic aberration. The deletions were defined as del(15) (q12q21) (two cases) and del(15)(q11q21) (one case). Cytogenetic analysis was supplemented by fluorescence in situ hybridization (FISH) using a chromosome 15 specific whole chromosome painting probe and probes hybridizing to the UBE3A gene on 15q11~q13, the PML gene on 15q22, and the telomeric region of 15q. Hereby, an interstitial deletion of 15q including UBE3A, but not PML and the telomeric region of 15q could be demonstrated. Two of our patients were diagnosed as acute myelocytic leukemia (AML) with bone marrow dysplasia classified as AML-M6 and AML-M4, respectively, according to the French-American-British classification; the third patient suffered from a chronic myelomonocytic leukemia (CMMoL). In two cases, the aberration was found at the time of primary diagnosis, whereas the third case showed the del(15) only during relapse of leukemia. Both cases with acute leukemia did not adequately respond to intensive chemotherapeutic treatment and died 13 and 11 months, respectively, after primary diagnosis. Our findings and the data of five previously published cases with an isolated del(15) indicate that: 1) del(15) represents a rare but recurrent abnormality in myelocytic hemopathies; 2) in our cases, del(15) was interstitial and included the region 15q11~q13/UBE3A, but not 15q22/PML and the telomeric region of 15q as shown by FISH; 3) del(15) occurs frequently in disorders with myelodysplastic or myeloproliferative features and may therefore affect early hematopoietic progenitor cells; and 4) del(15) may occur during disease progression and is often associated with an unfavorable prognosis.     

Granulocytic sarcoma in the absence of acute myeloid leukemia: a case report

Granulocytic sarcoma is an extramedullary tumor composed of immature granulocytic precursor cells. The most common sites of presentation are bone, periosteum, soft tissue, lymph node, skin, and infrequently small intestine. The tumor may develop during the course of acute myeloid leukemia, chronic myeloid leukemia or other myelodysplastic disorders. It can occur without blood or bone marrow manifestations of leukemia and in this case, the diagnosis is difficult. Our patient was initially diagnosed as a case of T-cell non Hodgkin's lymphoma and received one cycle of CHOP with only transient improvement in his symptoms. Subsequently, his biopsy slides were reviewed at our centre and were reported as granulocytic sarcoma.     

Treatment of refractory acute leukemia with aclacinomycin-A

Twelve patients with refractory acute leukemia (7 patients with acute myelocytic leukemia and 5 patients with acute lymphocytic leukemia) were treated with a new anthracycline antibiotic, aclacinomycin-A (ACM). ACM was administrated by intravenous drip infusion at a dose of 20 mg/day for 7 or 14 days and this was repeated after at least 7 days. Four of 12 patients (33.3%) achieved a complete remission; 3 of 7 acute myelocytic leukemia (42.8%) and 1 of 5 acute lymphocytic leukemia (20.0%). The days required for achieving the complete remission ranged from 23 to 78 days (median: 61) and the total doses of ACM used from 180 to 500 mg (median: 310), and the durations of complete remission from 11 to 28+ weeks (median: 21+). The untoward effects on digestive organs, such as nausea, vomiting and anorexia, and hematological toxicities were frequently seen; however, they were controlled by supportive treatment. Alopecia was not observed. Arrythmia was recognized in one patient at the initiation of ACM infusion with complete remission without withdrawal of ACM. These results suggest that ACM is a potentially effective anthracycline antibiotic in the clinical management of acute leukemia.