Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation

<p>Abstract</p> <p>Background</p> <p>There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome.</p> <p>Methods</p> <p>A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996.</p> <p>Results</p> <p>A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens. The microsatellite analysis of the tumor showed an unstable pattern for markers BAT25 and BAT26. The immunohistochemical staining was negative for MSH2 and MSH6 and normal for MLH1 and PMS6 enzymes.</p> <p>Conclusion</p> <p>The segregation of the mutation with the disease phenotype and these results suggest that MSH2 inactivation may be involved in the accelerated breast carcinogenesis and might be considered in the cancer screening program.</p

Brief Communications - Myelodysplastic syndrome and pancytopenia responding to treatment of hyperthyroidism: Peripheral blood and bone marrow analysis before and after antihormonal treatment

Hematological disorders, especially single lineage abnormalities, have been described in hyperthyroidism. Pancytopenia has been reported, without myelodysplastic syndrome or megaloblastic anemia. We studied the peripheral blood smear and the bone marrow aspiration and biopsy of a 65-year-old lady, who presented with pancytopenia and thyrotoxicosis due to multinodular goiter. She denied ingesting any toxic medication. At diagnosis: WBC: 2500 /ul, platelets count: 58.000/ul, hemoglobin level: 6.5 g/dl. The bone marrow was moderately hyper cellular with moderate myelofibrosis and arrested hematopoiesis. The TSH level was: 0.02 mIU/l (N: 0.25-4), the fT3: 18 pmol/l (N: 4-10), the routine serum immunologic tests were negative. After treatment with single agent neomercazole (carbimazole), complete recovery of the blood cell counts was obtained within one month. The bone marrow aspiration, performed three months after starting therapy, showed normal hematopoiesis. The thyroid function tests returned to normal and no autoimmune reaction was detected on routine serum testing. Persistent response was observed six months later under medical treatment. The patient has refused surgical treatment. Reversible myelodysplastic syndrome may also be part of the changes in blood picture of patients with hyperthyroidism, probably due to direct toxic mechanism

Disseminated Gastric MALT Lymphoma with Monoclonal Gammopathy, t(11;18)(q21;q21), and Subsequent Development of T-Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature

Background. Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) is a well-characterized entity that may share clinical and morphological findings with other low-grade non-Hodgkin’s lymphomas. Dissemination of MALT-type lymphoma to bone marrow and peripheral blood simultaneously with the presence of T-large granular cell leukemia (T-LGL) has rarely been reported. Case Presentation. This is the case of a 42-year-old male who presented with a gastric MALT-type lymphoma, disseminated to the bone marrow and the peripheral blood with high serum IgM levels and t(11;18)(q21;q21). The morphological, immunophenotypical and, immunohistochemical studies of the successive bone marrow and peripheral blood samples had revealed the coexistence of two distinct lymphoma cell populations: a B-cell, marginal zone type population expressing CD19, CD20, CD22, CD79b, IgM, and kappa light chain, and a T-large granular cell population, developed after treatment with rituximab expressing CD3, CD8, CD5, CD7, and CD45. Conclusion. Based on the analysis of this unusual case we performed an extensive review of the literature to elucidate the relationship between T-LGL and B-cell lymphomas and to emphasize the importance of paraprotein analysis at diagnosis of gastric MALT lymphoma

Salvage abdominal irradiation for refractory non-Hodgkin's lymphoma

Background: Abdominal irradiation, as a part of treatment, is often ignored in the management of refractory non-Hodgkin\u2032s lymphoma (NHL). Objective: To evaluate the efficacy and the toxicity of this approach after failure of chemotherapy. Materials and Methods: 27 patients with intraabdominal lymphoma underwent salvage irradiation between 1982 and 2001. All patients were treated with a Cobalt-60 machine. The total dose administered to the abdomen was 18-20 Gy at the rate of 1.5-1.8 Gy per daily fraction, followed by a boost to gross disease up to 20 Gy. All patients had previously been heavily pretreated with chemotherapy. Fourteen patients, nine with follicular and five with diffuse lymphomas, had primary refractory tumors that had never achieved remission. Thirteen patients, six with follicular and seven with aggressive tumors, had refractory relapsed tumors after achieving one or more complete remissions. Results: The response rate was 77%. The median follow-up was 53 months. The 5-year and 10-year survival rates were 25 and 17%, respectively. The in-field and out-of-field recurrence rates were 22 and 33%, respectively. Survival rates were significantly better for patients with refractory relapse compared to those with primary refractory lymphoma (P &lt; 0.01). There was no significant difference in terms of response, recurrence, or survival rates between follicular and aggressive types. Out-of-field recurrence occurred more frequently in initial stage III and IV disease. Toxic deaths occurred in three patients (11%). Conclusion: Salvage radiotherapy for refractory abdominal NHL is a feasible alternative for both follicular and diffuse subtypes and may provide significant palliation and prolongation of survival. It is less effective in patients with primary refractory NHL than in those with refractory relapsed NHL

Salvage abdominal irradiation for refractory non-Hodgkin's lymphoma

Background: Abdominal irradiation, as a part of treatment, is often ignored in the management of refractory non-Hodgkin′s lymphoma (NHL). Objective: To evaluate the efficacy and the toxicity of this approach after failure of chemotherapy. Materials and Methods: 27 patients with intraabdominal lymphoma underwent salvage irradiation between 1982 and 2001. All patients were treated with a Cobalt-60 machine. The total dose administered to the abdomen was 18-20 Gy at the rate of 1.5-1.8 Gy per daily fraction, followed by a boost to gross disease up to 20 Gy. All patients had previously been heavily pretreated with chemotherapy. Fourteen patients, nine with follicular and five with diffuse lymphomas, had primary refractory tumors that had never achieved remission. Thirteen patients, six with follicular and seven with aggressive tumors, had refractory relapsed tumors after achieving one or more complete remissions. Results: The response rate was 77%. The median follow-up was 53 months. The 5-year and 10-year survival rates were 25 and 17%, respectively. The in-field and out-of-field recurrence rates were 22 and 33%, respectively. Survival rates were significantly better for patients with refractory relapse compared to those with primary refractory lymphoma (P < 0.01). There was no significant difference in terms of response, recurrence, or survival rates between follicular and aggressive types. Out-of-field recurrence occurred more frequently in initial stage III and IV disease. Toxic deaths occurred in three patients (11%). Conclusion: Salvage radiotherapy for refractory abdominal NHL is a feasible alternative for both follicular and diffuse subtypes and may provide significant palliation and prolongation of survival. It is less effective in patients with primary refractory NHL than in those with refractory relapsed NHL

Brief Communications - Myelodysplastic syndrome and pancytopenia responding to treatment of hyperthyroidism: Peripheral blood and bone marrow analysis before and after antihormonal treatment

Hematological disorders, especially single lineage abnormalities, have been described in hyperthyroidism. Pancytopenia has been reported, without myelodysplastic syndrome or megaloblastic anemia. We studied the peripheral blood smear and the bone marrow aspiration and biopsy of a 65-year-old lady, who presented with pancytopenia and thyrotoxicosis due to multinodular goiter. She denied ingesting any toxic medication. At diagnosis: WBC: 2500 /ul, platelets count: 58.000/ul, hemoglobin level: 6.5 g/dl. The bone marrow was moderately hyper cellular with moderate myelofibrosis and arrested hematopoiesis. The TSH level was: 0.02 mIU/l (N: 0.25-4), the fT3: 18 pmol/l (N: 4-10), the routine serum immunologic tests were negative. After treatment with single agent neomercazole (carbimazole), complete recovery of the blood cell counts was obtained within one month. The bone marrow aspiration, performed three months after starting therapy, showed normal hematopoiesis. The thyroid function tests returned to normal and no autoimmune reaction was detected on routine serum testing. Persistent response was observed six months later under medical treatment. The patient has refused surgical treatment. Reversible myelodysplastic syndrome may also be part of the changes in blood picture of patients with hyperthyroidism, probably due to direct toxic mechanism