Search

Introduction: Niemann-Pick disease is an autosomal recessive disorder due to partial or total deficit in sphingomyelinase., Exegesis: We report a case of type B Niemann-Pick disease revealed by pneumonia and splenomegaly associated with blue histiocyte syndrome. Investigations that were done 2 years prior to diagnosis had shown the existence of isolated chronic lipid pneumonia which is specific of overloading., Conclusion: Though diagnosis is based on biochemistry, the morphology of alveolar histiocytes after simple bronchoalveolar lavage is of value.

Despite important initial chemosensitivity, advanced ovarian cancer has a bad prognosis with a median survival of 20 to 30 months. These results might be better with intensive chemotherapy. We analysed 67 patients treated by intensive chemotherapy with autologous stem cell transplantation for advanced ovarian cancer at Institute Paoli-Calmettes between 1980 and 1994. Population was divided in two groups: salvage group (n = 30) for initial chemotherapy-refractory patients and consolidation group (n = 37) for sensitive patients. Several successive conditioning regimens were used, all based on alkylating agents. Principal toxicities were severe aplasia and mucositis. Four patients died from toxicity related to infection during strong immunosuppression. In salvage group, 9 out of 21 evaluable patients responded (43%), but duration of responses was short (median range of 5 months) and 2-year overall survival rate was 8% after transplantation. In consolidation group, 19 patients are alive and 15 are without disease progression with a median follow-up of 42 months (17, 161) after diagnosis. Five-year disease-free survival rate is 28% (median range of 35 months) and 5-year overall survival rate is 48% (median range of 41 months). Intensification does not seem to be long term beneficial for initial chemotherapy refractory patients, despite objective responses rate better than classical treatment. On the other hand, results seem better than conventional treatments in case of chemosensitive disease and should be confirmed prospectively in larger cohort of patients. Moreover, other research directions are open like intensification supported by hematopoietic growth-factors and peripheral stem cells, definition of best conditioning regimen, use of taxanes, and intensification in first line chemotherapy after initial surgery.

A case of peritoneal mesothelioma discovered during laparotomy for ascites is reported. A long-term survival of 5 years was observed with combined treatment: surgery and chemotherapy. Peritoneal mesothelioma is a rare neoplasm often related to asbestos exposure and its prognosis is poor. No laboratory test other than histologic examination is specific for the diagnosis. Combined treatment with radiotherapy and chemotherapy seems to improve the survival rate.

Over a 10 year period, we transplanted 63 patients with acute lymphoblastic leukaemia (ALL) who had achieved first complete remission (CR). All were > 15 years old and 45 (71%) had at least one poor prognostic factor. Twenty-nine patients with a suitable sibling underwent autologous bone marrow transplantation (BMT). Beginning in 1984, patients without a donor received an allogeneic BMT (34 patients). Preparation consisted of cyclophosphamide (CY)/TBI (78%) or melphalan (Mel)/TBI (22%); marrow was treated in vitro in 31 patients (allogeneic: 7; autologous: 24). Kaplan-Meier estimates of the probability at 6 years of relapse, survival and DFS were 41% (allogeneic: 10%, autologous: 65%, p < 0.05), 44% (allogeneic: 62%, autologous: 26%, p = NS) and 42% (allogeneic: 62%, autologous: 27%, p < 0.06), respectively. This report confirms that allogeneic BMT permits long-term remissions giving high levels of survival when performed shortly after entering first CR while autologous BMT, when performed in the same setting, is less successful at preventing relapse. This study also confirms the high sensitivity of ALL to the graft-versus-leukemia effect provided by allogeneic BMT. Chemoradiotherapy dose intensification delivered at autologous BMT is not sufficient to prevent relapses. Autologous BMT must therefore be augmented by other approaches of which immunotherapy may be one.

We report the case of a 71-year old male patient with a chronic lymphoid leukaemia of 10 years' duration who abruptly suffered deterioration of this general condition and haematological disturbances suggesting worsening of this blood disease (Richter's syndrome). Blood cultures demonstrated a Campylobacter coli septicaemia. Treatment with antibiotics resulted in a return to the previous clinical and biological situation. The various visceral manifestation of the infection are discussed.

A case of Hodgkin's disease associated from the start with visceral leishmaniasis in the absence of antitumoral treatment shows that leishmaniasis is a severe opportunistic infection in endemic areas and can be masked by the tumoral syndrome of an underlying pathology. Conversely, patients with visceral leishmaniasis must be investigated for a cause of immunosuppression with, in particular, biopsy of accessible lymph nodes. The exceptionally favourable course of this particular case deserved to be high-lighted.

Forty-seven patients with high risk acute lymphoblastic leukemia (ALL) received an allogeneic (allo) or autologous (auto) bone marrow transplant (BMT). Patients in both groups were comparable in terms of age, initial presentation of ALL and induction chemotherapy. Allo patients were transplanted earlier (median 3 months after CR) than auto patients (median 6.5 months after CR). Auto patients received more consolidation chemotherapy before BMT. All patients received total body irradiation 2.2 Gy/day x 5 days after cyclophosphamide 60 mg/kg x 2 (18 allo and five auto) or melphalan 140 mg/m2 (seven allo and 17 auto). Prevention of graft-versus-host disease (GVHD) was by conventional immunosuppression in 17 patients and T cell depletion in eight. Seven patients (28%) developed moderate to severe acute GVHD. Auto marrow was treated in vitro in each case. Seven patients died in CR from BMT complications (five allo and two auto). The probability of relapse was 9% for patients receiving allo BMT and 52% for patients receiving auto BMT (p less than 0.01). The disease-free survival was 71% for allo BMT and 40% for auto BMT (p = NS). Early BMT is an effective form of consolidation for high risk patients with ALL in first CR. An allogeneic anti-leukemia effect was demonstrated in this study.

High-dose melphalan followed by "rescue" with autologous marrow stored for 12-24 hours at room temperature was used in the treatment of 14 patients with advanced tumors refractory to conventional treatment. Twelve patients were evaluable, with three complete responses (25%), five partial responses (42%), and two minimal responses (16%). Response durations ranged from 4 to 38 weeks (median, 7). There were two treatment-related deaths and one patient developed acute nonlymphocytic leukemia 3 months after a second course of high-dose melphalan.

The case of a 52-year-old patient with systemic amylosis diagnosed upon examination of an osteomedullary biopsy specimen is reported. The most prominent clinical manifestation was a major hemorrhagic syndrome which was recognized as being a result of severe factor Stuart deficiency. The new classification of amyloses based on the latest biochemical and immunological findings is recalled. Current physiopathogenic speculations put emphasis on plasmocyte-macrophage cooperation. Lastly, factor Stuart deficiency, which is as classical as it is uncommon, could originate in the particular affinity of amyloid fibers for this factor and in a "mass effect" (quantity of amyloid substance directly exposed to blood flow), explaining why splenectomy is effective in some instances.

It is reported a case of long-term Hodgkin's disease treated with several courses of radiotherapy and chemotherapy and complicated with acute myeloblastic leukemia. Authors discuss the responsability of treatment immunosuppression, viral infections, levamizole and genetic factor.

The authors describe a patient treated 16 years by phenylbutazone for ankylosing spondylarthritis and in whom appeared an IgA multiple myeloma with a Kappa light chain. This pathological association is rare and we can wonder about the respective etiopathological roles of spondylarthritis and its treatment by phenylbutazone in the occurrence of multiple myeloma.

A 55-year-old man was treated during 22 months with chlorambucil (total dose : 4 218 g) for glomerulonephritis. Towards the end of the treatment, he developed acute myelomonocytic leukaemia and died of this complication. The authors underline the oncogenetic dangers of the association dysimmune disease/immunosuppressive treatment and draw attention to the almost regular preleukaemic phase with its well-known cytological, biochemical, immunological, cytogenetic and evolutive criteria.

Two cases of CLL terminating in Richter's syndrome and in blastic crisis raise the problem of the physiopathological signification of these unusual complications. Richter's syndrome is described as a "histiocytic" lymphoma or a Hodgkin's disease supervening on a CLL. It does not seem that these two pictures have actually to be distinguished since clinical and haematological aspects are not different, and histopathologic studies show always atypical aspects with difficulty of an accurate diagnosis. Cases of blastic crisis of CLL are very uncommon. They correspond to the transformation of a CLL in acute lymphoblastic leukaemia. These two terminal complications of CLL suggest they may be interpreted as two pictures of the transformation of the same initial B cellular clone. This hypothesis, highly probable for the Richter's syndrome, has been actually demonstrated for the acute transformation of CLL.