Peripheral primitive neuroectodermal tumour of the liver: a case report and review of the literature

Peripheral primitive neuroectodermal tumour (PNET) is a malignant mesenchymal tumour. Although PNETs can occur in numerous solid organs, it is an extremely rare tumour entity, specially involving the liver.We report a 19-year-old boy with Hepatitis B Virus (HBV) infection who was diagnosed with a primary PNET of the liver.     

Peripheral primitive neuroectodermal tumour of left ventricular wall origin: a rare case

About 7 years ago, we undertook the resection on a patient with a tumour of the wall of the left ventricle near the atrioventricular junction. The pathologic diagnosis after the operation was peripheral primitive neuroectodermal tumour (pPNET) of the left ventricular wall. Microscopically the cell had a small, round, deeply basophilic nucleus, rich in chromatin, and little or no surrounding perikaryon. To our knowledge, no article has ever reported a case of primary myocardial PNET which grew towards the pericardial cavity and there is no adequate data on optimal treatment of PNET in the heart at present. In our case since the tumour recurred in situ and had no evidence of distant metastases, we considered orthotopic cardiac transplantation.     

肝脏原始神经外胚层肿瘤临床特点分析

目的 探讨肝脏原始神经外胚层肿瘤(primitive neuroectodermal tumors,PNET)临床特点及治疗方案.方法 在Pubmed、Europe PMC、CBM Web、知网、万方、维普多家数据库检索从1980年1月至2020年11月文献报道肝脏PNET患者,结合我院1例肝脏PNET对其临床资料进行...     

Resection of hepatocellular carcinoma: Oligocentric origin of recurrent and multinodular tumours

The structure of integrated hepatitis B virus (HBV) DNA was analysed to determine the origin of recurrent and multinodular hepatocellular carcinoma (HCC). In 5 cases, recurrent tumours were compared with the respective primary tumours, all of which had chromosomally integrated viral DNA. In only one of these cases, an identical HBV DNA integration pattern was found, indicating a monocentric origin of primary and secondary tumour. In all other cases a polycentric origin was deduced. Particular features observed were: (i) the apparent absence of integrated viral DNA in a recurrent tumour; and (ii) an integration pattern identical to that of the primary tumour and a distinct new pattern in two different foci of multinodular recurrent HCC. For multinodular primary HCC one case was analysed and found to be of independent origin.     

Ewing sarcoma of the mesocolon

This case-report studies the clinical, radiological, anatomopatholo-gical and therapeutic aspects of peripheral primitive neuroectodermal tumours (PNET). PNET are neoplasms with a similar histology to tumours in the Ewing family. Diagnosis requires histopathology, immunohistochemistry and cytogenetic studies. To our knowledge, this rare tumour has never been reported in the mesocolon (our case). The treatment, which is usually similar to that for Ewing's sarcoma is complex and has not yet been codified, which is another difficult aspect of this disease with a poor prognosis.     

Oral squamous cell carcinoma after allogeneic bone marrow transplantation for Fanconi anaemia

We report a case of oral squamous cell carcinoma (SCC) originating in the buccal mucosa of an 18-year-old female patient with chronic graft-versus-host disease (GVHD) 9 years after HLA-identical sibling bone marrow transplantation (BMT) for Fanconi anaemia (FA). The case highlights the problems of malignant change in FA and also the increased risk of second malignancy after BMT. The literature is reviewed with regard to previous cases and the possible aetiology of tumour formation. A high index of suspicion to any epithelial lesion in FA is appropriate so that early diagnosis may lead to improved prognosis.     

Repetitious Appearance and Disappearance of Different Kinds of Clonal Cytogenetic Abnormalities After Allogeneic Bone Marrow Transplantation

We report a childhood case that showed the repeated appearance and disappearance of various kinds of cytogenetic abnormalities (CA) for 5.5 years after allogeneic bone marrow transplantation (BMT). The patient underwent allogeneic BMT from an HLA-matched unrelated donor during the second complete remission of acute lymphoblastic leukemia. The conditioning regimen for BMT consisted of etoposide, cyclophosphamide, anti-human thymocyte immunoglobulin, and total body irradiation. There were no leukemic relapses or secondary acute myeloid leukemia/myelodysplastic syndrome (AML/MDS) since the BMT. The CA occurred from residual recipient cells, which were damaged by chemotherapy or radiation prior to BMT. Although previous studies about post-BMT CA had reported the continuous emergence of identical clones, the present case showed the appearance of one different type of clone after another. Although the appearance of different types of CA may mean that these clones did not obtain any growth advantages, it may be a sign of genomic instability, which is probably a risk factor for the development of secondary AML/MDS.     

Pancreatic neuroendocrine tumours: hypoenhancement on arterial phase computed tomography predicts biological aggressiveness

Background

Contrary to pancreatic adenocarcinoma, pancreatic neuroendocrine tumours (PNET) are commonly hyperenhancing on arterial phase computed tomography (APCT). However, a subset of these tumours can be hypoenhancing. The prognostic significance of the CT appearance of these tumors remains unclear.

Methods

From 2001 to 2012, 146 patients with well-differentiated PNET underwent surgical resection. The degree of tumour enhancement on APCT was recorded and correlated with clinicopathological variables and overall survival.

Results

APCT images were available for re-review in 118 patients (81%). The majority had hyperenhancing tumours (n = 80, 68%), 12 (10%) were isoenhancing (including cases where no mass was visualized) and 26 (22%) were hypoenhancing. Hypoenhancing PNET were larger, more commonly intermediate grade, and had higher rates of lymph node and synchronous liver metastases. Hypoenhancing PNET were also associated with significantly worse overall survival after a resection as opposed to isoenhancing and hyperenhancing tumours (5-year, 54% versus 89% versus 93%). On multivariate analysis of factors available pre-operatively, only hypoenhancement (HR 2.32, P = 0.02) was independently associated with survival.

Discussion

Hypoenhancement on APCT was noted in 22% of well-differentiated PNET and was an independent predictor of poor outcome. This information can inform pre-operative decisions in the multidisciplinary treatment of these neoplasms.     

Allogeneic bone marrow transplantation for secondary leukaemia and myelodysplastic syndrome: a survey by the Leukaemia Working Party of the European Bone Marrow Transplantation Group (EBMTG)

This retrospective survey of the EBMT Leukaemia Working Party describes 78 patients with myelodysplasia (MDS) or secondary acute myelogenous leukaemia (sAML) who received an allogeneic bone marrow transplant (BMT). The status of underlying disease at the time of transplantation was prognostic for the 2-year disease-free survival. Thirty-four patients received intensive chemotherapy prior to the conditioning for BMT. The 2-year disease-free survival was 60% for the 16 patients transplanted in complete remission. The results were significantly less favourable for those with more advanced disease who only partially responded to prior intensive chemotherapy (2-year disease-free survival: 18%) while none of those who either relapsed or were resistant to chemotherapy survived BMT for 2 years. Forty-four patients had not received any prior intensive chemotherapy. The disease-free survival at 2 years after BMT was 58 +/- 19% when a patient was transplanted for refractory anaemia (RA(S], 74 +/- 14% for refractory anaemia with excess of blasts (RAEB), 50 +/- 16% for RAEB in transformation (RAEBt), and 18 +/- 11% for secondary AML. Allogeneic BMT can therefore be considered as curative treatment for patients with MDS. Patients with sAML who have a histocompatible donor should be given chemotherapy intensive enough to induce complete remission. If this is achieved these individuals have a prognosis comparable to those with de novo AML in first remission after BMT.     

Acute pneumatosis cystoides intestinalis following allogeneic transplantation -- the surgeon's dilemma

Pneumatosis cystoides intestinalis (PCI) is still a poorly understood phenomenon, currently considered to result from primary mucosal insult from varying causes. We report a case of severe PCI in a patient with chronic GVHD after bone marrow transplantation (BMT) performed to treat secondary AML. Post BMT, the patient suffered acute intestinal and cutaneous GVHD, eventually developing intestinal and biopsy-proven cutaneous chronic GVHD, which necessitated continuous steroid therapy. Chronic pancreatitis associated with GVHD was diagnosed by explorative surgery in February 2000 on the basis of increasing epigastric discomfort, tumour marker (CA 125) increase and the CT finding of a suspicious mass in the pancreas. Readmission occurred in April 2000 for rapid onset of inferior abdominal pain with distinct peritoneal signs. Relaparotomy, deemed necessary on the grounds of both clinical and radiological findings, revealed marked PCI of the ascending and transverse colon and attached mesentery in an otherwise intact gastrointestinal tract. Post-operative reconvalescence was uneventful, with no clinical or radiological recurrence of PCI in the following 10 months. In the context of a review of the relevant literature, this case report illustrates the complex underlying pathophysiology, and difficulty in making a differential diagnosis and treating PCI.     

Long-term follow-up of secondary malignancies in adults after allogeneic bone marrow transplantation

The purpose of this study was to evaluate the estimated incidence of secondary malignancies post-allogeneic bone marrow transplantation (BMT) in a cohort of adult patients previously reported now with an additional 8.5 years of follow-up. A cohort of 557 patients older than age 16 years underwent allogeneic BMT between June 1970 and November 1993. Histologic reports confirmed the diagnosis of a secondary malignancy. Multivariate Cox proportional hazards method was utilized to investigate predictors for the development of secondary malignancies. In all, 31 patients in this cohort developed a secondary malignancy a median of 6.79 years after their transplant. The estimated cumulative incidence rate of secondary malignancy was 4.2% at 10 years post transplant. When compared to the general population, the estimated observed/expected ratio of new cancer diagnoses was 5.13. On multivariate analysis, older age at the time of transplant was the only significant predictor for development of secondary cancer (P=0.01). The most common malignancies observed were nonmelanomatous skin cancers and squamous cell cancers of the buccal cavity. The risk of developing a secondary malignancy after allogeneic BMT is significant, particularly in older patients. Long-term survivors of transplant require regular monitoring for early signs of cancer, particularly of the skin and oral cavity.     

Proactive multi-modality treatment of Pancreatic Neuroendocrine Tumours (PNETs): Potential survival benefits

Background/objectives

Primary and metastatic pancreatic neuroendocrine tumours (PNET) can be treated with combination of surgery, locoregional and systemic therapy. Survival benefits from individual treatments have been well reported, however, the combined outcome from multimodal treatments are not well described in the literature. We report outcomes in a cohort of PNET patients treated with proactive, multimodality therapy.

Unusual cystic presentation of an endocrine carcinoma of the jejunum

The cystic presentation of endocrine tumours is rare and raises difficult diagnostic problems. So far, the only cases of cystic digestive endocrine tumours reported in the literature are of pancreatic origin. We report the unusual observation of a jejunal endocrine carcinoma presenting as a cystic abdominal mass. A 59-year-old woman was referred for chest and abdominal pain. Imaging studies revealed multiple cystic nodules in the liver and a large sus-mesocolic cystic lesion of probable intestinal origin. Biopsies of the extra-hepatic mass and liver nodules showed endocrine tumour. Surgical resection of the jejunal mass and of liver segment III were performed. Histological examination confirmed the diagnosis of jejunal endocrine carcinoma metastatic to the liver. Large areas of the primary and secondary tumours presented an unusual vesicular architecture, responsible for the cystic presentation. No adjuvant treatment was attempted. This observation underlines the difficult diagnostic problems raised by the cystic presentation of digestive endocrine tumours.     

Urate metabolism during bone marrow transplantation.

We studied urate metabolism in 36 patients undergoing both allogeneic and autologous bone marrow transplantation (BMT) without allopurinol. Most patients had low tumour burdens. Three different preparative regimens were used; busulphan/cyclophosphamide (BUCY); BCNU, etoposide, ara-C and melphalan (BEAM) and cyclophosphamide/total body irradiation (CY/TBI). Urate excretion rose during each of the regimens but the pattern of excretion varied with each regimen. Urate excretion remained elevated 72 h after completion of BEAM and BUCY, possibly reflecting the prolonged action of some of the agents used, e.g. melphalan, busulphan and etoposide. Urinary urate concentrations were unchanged compared with pre-chemotherapy levels reflecting the adequacy of the hydration protocol. No significant rise in creatinine was seen and no cases of tumour lysis syndrome occurred. Serum uric acid levels were a poor reflection of urate production, falling in most patients, and are an unreliable end-point for decisions regarding prophylaxis. BMT can be safely undertaken in patients with low tumour loads without allopurinol if an adequate urine volume is maintained. In this series, high levels of urate excretion often persisted for 72 h after the completion of conditioning and adequate hydration should be ensured during this period.     

Left posterior hemiblock related to an interventricular septum tumour. First case in the literature.

A 22-year-old man who engaged in intense and regular physical exercise complained of atypical chest pain. The only remarkable abnormality found in the routine clinical work-up was a left posterior hemiblock. The echocardiogram and the magnetic resonance imaging (MRI) study showed a tumour in the posterior and superior aspect of the interventricular septum where the posterior fascicle of the left bundle is located. It was interpreted that the left posterior hemiblock was produced by the tumour.     

TUMOUR VISUALISATION USING A RADIOLABELLED MONOCLONAL ANTIBODY*

A radiolabelled monoclonal antibody was injected intravenously into two patients with disseminated carcinoma of the colon and serial scintigrams were then obtained on three consecutive days. In addition to the “specific” antibody image, blood pool and conventional liver scans were also obtained. After computer-based subtraction discrete hepatic metastases could be demonstrated in both patients, while in the second patient, the primary colonic tumour was also visualised for the first time. The study demonstrates the specific localisation of primary and secondary carcinoma of the colon with a radiolabelled monoclonal anti-tumour antibody and offers an improved method of specifically detecting tumours in man. (Aust NZ J Med 1983; 13: 571–577.)     

Thrombocytopenia after bone marrow transplantation for leukaemia: changes in megakaryocyte growth and growth-promoting activity

Megakaryocyte growth-promoting activity (MK-GPA) was scored on a scale of 0-3 in the serum of 23 patients up to 120 d following bone marrow transplantation (BMT) for leukaemia. Nine of 19 allografts and two of four autografts had thrombocytopenia requiring platelet transfusion more than 30 d after BMT. There was a close correlation between MK-GPA and platelet count. MK-GPA reached a maximum before day 30 after BMT but remained elevated in patients with persisting thrombocytopenia secondary to poor engraftment, graft-versus-host disease (GVHD) or relapse. Recent platelet transfusion did not suppress serum MK-GPA. Two of four patients undergoing autologous BMT for acute myeloid leukaemia (AML) showed delayed platelet recovery and persistence of MK-GPA in the serum. Seven further AML remission marrows were tested for megakaryocyte production before or after autologous BMT, using pooled sera with known MK-GPA activity. Megakaryocyte generation was reduced before BMT and absent in post transplant samples. This failure of MK production was not corrected by T-cell depletion or by the presence of adherent cells from normal marrow. We conclude that thrombocytopenia after BMT is associated with an appropriate increase in MK-GPA levels in response to a reduction in the megakaryocyte pool rather than the platelet pool, and that persisting thrombocytopenia after autologous BMT is due to decreased numbers of available megakaryocyte precursors.     

Reversible course of pulmonary arterial hypertension related to bone marrow transplantation

Pulmonary arterial hypertension (PAH) is considered to be a rare but serious complication of bone marrow transplantation (BMT). The majority of the reports demonstrated a potential fatal outcome, while treatments are postulated to require an indefinite duration. Our objective is to describe cases of reversible PAH related to BMT in two patients. Two patients with PAH after BMT were investigated for the common secondary causes of PAH. Both results were negative. The first patient was a 19-year-old male. He was diagnosed with relapse acute lymphoblastic leukemia, underwent BMT, and developed PAH 10 months after transplantation. He was initially treated with iloprost and sildenafil. His functional class gradually improved while his medication was titrated down and switched to amlodipine. His pulmonary arterial pressure has been normalized. The second patient is a 20-year-old female, with a confirmed case of chronic myeloid leukemia, who underwent BMT and developed PAH 4 months after BMT. She was treated with sildenafil and beraprost. With improvement of her symptoms and normal exercise test, her medication was discontinued after 4 months of therapy while her pulmonary pressure currently remains normal. BMT was considered to be an uncommon cause of PAH, which is amenable to reversibility.     

Clinical management of aplastic anemia

Acquired aplastic anemia is a potentially fatal bone marrow failure disorder that is characterized by pancytopenia and a hypocellular bone marrow. Hematopoietic stem-cell transplantation or bone marrow transplantation (BMT) is the treatment of choice for young patients who have a matched sibling donor. Immunosuppression with either anti-thymocyte globulin and cyclosporine or high-dose cyclophosphamide is an effective therapy for patients who are not suitable BMT candidates owing to age or lack of a suitable donor. Results of BMT from unrelated and mismatched donors are improving, but presently this treatment option is best reserved for those patients who do not respond, relapse or develop secondary clonal disorders following immunosuppressive therapy. Efforts are currently underway to both improve immunosuppressive regimens and to expand the application of BMT.     

Metastatic peripheral primitive neuroectodermal tumor (PNET) masquerading as liver abscess: a case report of liver metastasis in orbital PNET

Adult primitive neuroectodermal tumor (PNET) of the orbit is an extremely rare malignant tumor. We report the case of a 37-year-old woman with PNET metastasis of the liver 3 years after treatment of the primary right intraconal orbital PNET with resection and chemoradiation adjuvant therapy. Literature review revealed eight previous cases of orbital PNET, but this is the first case report of liver metastasis arising from orbital PNET.