High-dose chemotherapy and autologous stem cell transplant in adolescent patients with relapsed or refractory Hodgkin's lymphoma.

Fifty-eight adolescent patients with relapsed or primary refractory Hodgkin's lymphoma underwent high-dose chemotherapy (HDC) and autologous SCT (ASCT). The median age at ASCT was 17 years (range 14-21). The disease had relapsed in 24 patients (41%) and was refractory to initial chemotherapy in 34 (59%). ESHAP salvage chemotherapy before ASCT resulted in 88% response. After ASCT, complete remission (CR; including CR-unconfirmed) was seen in 41 patients (71%) and partial remission in 7 (12%). The overall response rate was 83%. One patient did not respond and nine (15%) had progressive disease. Three more patients achieved CR after consolidative radiation post-ASCT. There was no transplant-related mortality. At a median follow-up of 43 months from ASCT, 31 patients (53%) are alive in CR, 5 (9%) are alive with disease and 22 (38%) have died (21 from disease and 1 unrelated). The actuarial probabilities of event-free and overall (OS) survival are 45 and 55% at 11 years. The only negative prognostic factor for OS was the presence of B symptom at relapse or progression (11-year OS 27 vs 60%, P=0.003).

High-dose chemotherapy and autologous stem cell transplantation for Hodgkin's lymphoma in the kingdom of Saudi Arabia: King Faisal specialist hospital and research center experience.

We report our experience with high-dose chemotherapy (HDC) and autologous SCT (ASCT) in 66 patients out of 113 (113 patients out of 153 had complete analysis) with primary refractory Hodgkin's lymphoma (PR-HL) who received salvage chemotherapy followed by BEAM as HDC. Median age at ASCT was 23 years. Before salvage chemotherapy, stages I:II:III:IV were 2:21:14:29, bulky disease 27%, involvement of mediastinum 79%, spleen 26% and extranodal site 47%; 92% had ESHAP (etoposide, methylprednisolone, high-dose cytarabine, cisplatin) as salvage. Post-ASCT evaluation showed response in 50 patients (76%), complete response (CR) in 37 (56%), partial response in 14 (21%), no response or stable disease in three (5%) and progressive disease in 10 (15%) patients. Six patients achieved CR after XRT (5) or surgery (1), making a total with CR of 43 (65%). From diagnosis and HDC, median follow-up is 38.5 and 22.8 months and median overall survival 78 and 57 months, respectively. EFS and overall survival (OS) are 36 and 64%, respectively. In all 47% patients are in CR. Twenty-two (33%) patients died of the disease. Multivariate analysis showed elevated lactic dehydrogenase (LDH) for EFS (P=0.041) and mediastinal involvement for OS (P=0.038) as negative prognostic factors. In conclusion, EFS and OS are only 36 and 64%, respectively. Elevated LDH and mediastinal involvement are poor prognostic factors.

Hepatocellular carcinoma, syncytial giant cell: a novel variant in children: a case report.

Hepatocellular carcinoma (HCC) is the second most common primary malignant hepatic tumor in children. It often develops in patients with underlying liver disease. We report the clinicopathologic features of an unusual HCC occurring in an infant who presented with features of Cushing's syndrome due to bilateral adrenal hyperplasia. The tumor is characterized by epithelial syncytial giant cells. Giant cell carcinoma of the liver has been previously reported, but the cells were osteoclast-like (ie, mesenchymal type) and not epithelial type as it is in this patient. We propose to use the term HCC, syncytial giant cell type, to denote this apparently novel lesion.

Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis.

Progressive familial intrahepatic cholestasis (PFIC) is a heterogenous group of disorders with various etiologies. Recent molecular and genetic studies have categorized the spectrum of types. Liver transplantation is a curative modality of treatment in this disease. We report our experience with 13 patients with PFIC who underwent living related liver transplantation. The follow-up periods ranged from 12 to 50 months. Two children died at 1 and 2 years posttransplantation, leading to a decrease in survival rate from 100% in the first year to 84.6%.

Paget's disease of the oesophagus associated with mucous gland carcinoma of the lower oesophagus.

AIM: To report a rare case of oesophageal Paget's disease and its rarer combination with submucosal gland carcinoma of the lower oesophagus. METHODS AND RESULTS: A 74-year-old Saudi female was admitted with the complaint of dysphagia. Endoscopic examination showed an ulcerated tumour at the gastro-oesophageal junction. Initial biopsy showed an undifferentiated carcinoma with pagetoid spread in the oesophageal stratified squamous epithelium. Oesophago-gastrectomy specimen showed a lobulated, poorly differentiated mucous gland carcinoma at the gastro-oesophageal junction. The tumour showed focal acinar differentiation and obvious cancerization of the submucosal glands, somewhat similar to the breast lobular carcinoma in situ. One of the isolated and cancerized submucosal glands also showed carcinoma in situ of its duct. Oesophageal surface epithelium showed extensive pagetoid spread, both over and away from the main tumour. The pagetoid tumour cells showed selective positivity for cytokeratin 7, cytokeratin Cam 5.2, BerEP4 and to a lesser extent for CEA. CONCLUSIONS: As far as we know, this is the fifth case report of oesophageal Paget's disease and the first report of its association with the underlying mucous gland carcinoma.

Carnitine palmityl transferase I deficiency.

Carnitine palmityl transferase I is the key enzyme in the carnitine dependent transport of long chain fatty acids across the mitochondrial inner membrane and its deficiency results in a decrease rate of fatty acids beta-oxidation with decreased energy production. We reported a family of 3 affected siblings who are the product of a first degree cousin marriage. The first 2 presented with typical Reye-like syndrome with unconsciousness, hepatomegaly, hypoglycemia, hyperammonemia and very high liver enzymes. Liver biopsy showed steatosis. On screening of the complete family, the 3rd sibling was found to have hepatomegaly. The 3 siblings showed an acyl carnitine profile with very high free carnitine with almost absent long chain acyl carnitines, suggestive of carnitine palmityl transferase I deficiency. This was confirmed by enzyme analyses in fibroblast cultures. These patients were effectively treated with a diet high in carbohydrate, low in long chain fatty acids with medium chain triglycerides. In conclusion, carnitine palmityl transferase I deficiency is an important cause of Reye-like syndrome, which may be treated easily with very good results if detected early in life.

Living-related liver transplantation.

We report here, the first pediatric living-related liver transplant in Saudi Arabia and the Middle East. Our patient is a 2 year old girl with a diagnosis of progressive familial intrahepatic cholestasis, causing intractable pruritus and failure to thrive requiring liver transplantation. The child was successfully transplanted using a segment of her mother's liver for living-related liver transplantation. Two years post-transplantation the patient is doing well. With the ongoing crises in cadaveric organ availability and the high prevalence of pediatric liver disease, living related liver transplantation is an ideal solution to this difficult and challenging problem.

The value of CD34, myeloperoxidase and chloroacetate esterase (Leder) stain in the diagnosis of granulocytic sarcoma.

BACKGROUND: The differentiation of extramedullary myelogenous leukemia/granulocytic sarcoma (GS) from malignant lymphoma can sometimes be difficult. In the current study, we explored the value of CD34, myeloperoxidase and nonspecific esterase (Leder) stains in differentiating GS from lymphomas. MATERIALS AND METHODS: Fifteen cases of phenotypically confirmed GS were stained for CD34, myeloperoxidase and Leder stains. The same stains were performed in 16 malignant lymphomas as controls. The GS cases were also immunostained for CD3 and CD20 to detect the incidence of aberrant T and B lymphocyte expression. RESULTS: CD34 was expressed in 7 of the 15 cases of GS (46%). Myeloperoxidase was expressed in 10 of the 15 cases (66%), and Leder stain was positive in 9 cases (60%). All 15 cases had expression of at least one marker; 8 cases had expression of two markers and one case had expression of all 3 markers. None of the lymphomas showed expression of any of the three markers. Five cases (35%) of GS showed T cell antigen expression and 2 (14%) showed B cell antigen expression. CONCLUSION: Our findings suggest that in cases of GS, the use of the combination of CD34, myeloperoxidase and Leder stains can help reach a definitive diagnosis, especially if lymphoma is difficult to exclude. Expression of B and T cell antigens in such lesions should not rule out the diagnosis of GS.