فهرست مطالب geetha narayanan

Gastrointestinal Stromal Tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract and most commonly affects the stomach, while fibromatosis is a rare locally aggressive fibrous tissue neoplasm. There have been reports of GIST and fibromatosis occurring in same individual and in most of them fibromatosis occurs within the abdomen. In 75% of patients fibromatosis occurs after the diagnosis of GIST while in 20% it is seen synchronously. Here we report a case of axillary fibromatosis with synchronous GIST of the gastroesophageal junction in a 45-year-old male treated with surgery and now on adjuvant imatinib.

The half-life of free light chain is short and can be used as an early marker for tumor response in patients with multiple myeloma [MM]. This prospective study is aimed at evaluating whether early light chain response can predict response to treatment in patients with MM.

Thirty six patients with a diagnosis of MM and with an abnormal to normal light chain ratio of > 10 were included in this study.

The median age at presentation was 56 years. Fourteen patients had lambda light chain disease, whereas 22 patients had kappa light chain disease. Twenty-four patients [66.6%] had reduction of abnormal to normal light chain ratio to < 10 after 2 cycles, of whom 15 [62.5%] achieved a CR or VGPR after 6 cycles. Among 12 patients who did not have reduction of abnormal to normal light chain ratio to < 10, only 1 patient achieved CR while 11 patients [91.6%] achieved a PR or less[Fishers exact p=0.004]. Median follow-up was 13 months. Median progression-free survival for the entire cohort was 15 months. One-year Progression-Free Survival was 77% vs 57.1%, [p= 0.008], respectively for patients with early normalization and those who did not show early normalization.

Early light chain response after 2 cycles of chemotherapy is a good predictor for treatment response in patients with MM treated with bortezomib based chemotherapy. Treatment intensification based on early light chain response merits further evaluation in a prospective trial

Chylous pleural effusion is characterized by milky-appearing fluid with elevated triglyceride content and presence of chylomicrons in the pleural space. Even though patients with lymphoma sometimes present with malignant pleural effusion, chylous effusion is rarely encountered as a presenting feature in such patients. We present a 47-year-old woman diagnosed as follicular lymphoma who presented with chylothorax. Complete response to combination chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone was achieved. The patient is asymptomatic, in remission at 18 months of follow up.

Extramedullary plasmacytoma occurs in 18% of patients with multiple myeloma. Laryngeal involvement in multiple myeloma is rare, and only a few cases have been reported. We present a case of a 44-year-old women with multiple myeloma who presented with stridor due to a mass involving the larynx which was initially proven to be plasmacytoma on biopsy. She had evidence of multiple myeloma of IgA lambda subtype. She was treated with bortezomib containing chemotherapy followed by lenalidomide as maintenance therapy. She attained complete remission and is alive in remission at 3 years of treatment.

Survival of patients with multiple myeloma has improved substantially because of availability of new therapies including autotransplants, immunomodulating drugs and proteasome-inhibitors. Second primary cancers have emerged as an important determinant of morbidity and mortality among cancer survivors. Even though there is an increased risk of new cancers of the lymphoreticular and haematopoetic system, it is very rare for Hodgkin’s lymphoma to occur as a second malignancy following autologous peripheral blood stem cell transplantation (APBSCT) for myeloma. We report a case of a female with plasma cell leukemia treated with autologous peripheral blood stem cell transplantation and lenalidamide maintenance. She developed cervical lymphadenopathy 4.5 years after the APBSCT, biopsy confirmed the diagnosis of classical Hodgkin’s lymphoma, nodular sclerosis type. Since she developed allergic reaction to ABVD, she was given 6 cycles of COPP chemotherapy and is in complete remission now.

Inversion of chromosome 9 had been widely discussed among geneticists and evolutionary biologists because of its significant impact on various hereditary disorders and in the evolution of man. The role of such inversions in human disease evolution is an area hitherto unclear.
We present the case of a chronic myeloid leukemia (CML) patient who showed intermittent relapse on treatment, with a rare appearance of clones with dual inversion (9) breakpoints [inv(9)(p22q34); inv(9)(p11q21)]. We also present the first report of inv(9)(p11,q13) as the sole abnormality in a patient with chronic myeloproliferative disorder(CMPD). Both the patients registered in 2012 and were from Kerala, India.
Both the cases discussed in our study have inv(9) as the sole abnormality and are found to confer a relatively poor prognosis.

Fms-like tyrosine kinase 3 is a tyrosine kinase receptor that plays anJavascript: FormatThis (''B'') important role in proliferation and differentiation of hematopoietic stem cells. Internal tandem duplication and tyrosine kinase domain mutation are the two most common types of fms-like tyrosine kinase 3 mutationsfrequently reported in acute myeloid leukemia associated with pathogenesis of this disease. The present study investigates the prevalence and distribution pattern in different acute myeloid leukemia sub- and cytogenetic groups، the association with clinical parameters and the prognostic importance of these mutations in acute myeloid leukemia patients from South India. Mutation analysis was performed in 276 de novo acute myeloid leukemia patients by polymerase chain reaction restriction fragment length polymorphism using specific restriction enzymes followed by sequencing to confirm the mutations. Kaplan Meier survival analysis was performed to detect the prognosis. Fms-like tyrosine kinase 3 internal tandem duplication mutations were observed in 20%، tyrosine kinase domain mutation in 4% and dual mutations in 0. 3% of the analyzed cases. The internal tandem duplication mutations ranged from 15-107 nucleotides with the majority at the juxta membrane domain of the receptor. Three types of tyrosine kinase domain point mutations were identified: D835Y، D835H and D83 V. We observed a significant association between fms-like tyrosine kinase 3 mutations and increased WBC and LDH counts (P<0. 001) and blast percentage but not with age، gender and FAB subtypes. A significant association with normal karyotype was observed for the mutants (P=0. 002). Survival analysis revealed that the fms-like tyrosine kinase 3 gene mutation was a negative prognostic marker for acute myeloid leukemia patients. The risk stratified analysis showed the mutation to be a risk factor for the intermediate karyotype group، especially for those with normal cytogenetics. Our results indicate that the presence of an fms-like tyrosine kinase 3 mutation can serve as a valuable prognostic marker in this subgroup of patients، allowing stratification for risk-directed therapy.