Metastatic adenocarcinoma in a young male, 12 years after treatment of primary non seminomatous germ cell tumor

A man aged 32 years presented with metastatic adenocarcinomatous deposits, 12 years after his initial diagnosis and treatment of immature teratoma of the testis. He was treated for his metastasis with local radiotherapy, failing which he underwent excision of the tumor and palliative chemotherapy. This case is presented for its rarity of occurrence, unique presenting features and difficulty in management

Atypical presentation of chronic myeloid leukemia with visual disturbance

Chronic myeloid leukemia (CML) is a clonal hematopoietic disorder characterized by a reciprocal translocation between chromosome 9 and 22 resulting in bcr-abl1 fusion gene. Patients usually present with symptoms of anemia, splenomegaly, and hyperleukocytosis. Initial presentation with visual disturbance, without other symptoms, is rare in CML. No specific treatment has been described for ocular lesions in leukemia. Treating the underlying malignancy would aid in resolution of the symptoms. We report a case of CML presenting with retinal hemorrhages

Impact of cytogenetics on outcomes in pediatric acute lymphoblastic leukemia

Context: In acute lymphoblastic leukemia (ALL), the most important prognostic factors are age, leukocyte count at presentation, immunophenotype, and cytogenetic abnormalities. The cytogenetic abnormalities are associated with distinct immunologic phenotypes of ALL and characteristic outcomes. Aims: The present study was primarily aimed at analyzing the impact of cytogenetics on postinduction responses and event-free survival (EFS) in pediatric patients with ALL. The secondary objective was to study the overall survival (OS). Subjects and Methods: A total of 240 patients with age <18 years and diagnosed with ALL between January 2011 and June 2016 were retrospectively analyzed. Cytogenetics was evaluated with conventional karyotyping or reverse transcriptase polymerase chain reaction. Based on cytogenetic abnormalities, the patients were grouped into five categories, and the outcomes were analyzed. Results: Of the 240 patients, 125 (52%) patients had evaluable cytogenetics. Of these, 77 (61.6%) patients had normal cytogenetics, 19 (15.2%) had t(9;22) translocation, 10 (8%) had unfavorable cytogenetics which included t(9;11), hypodiploidy, and complex karyotype, 10 (8%) had favorable cytogenetics which included t(12;21), t(1;19), and high hyperdiploidy, 9 (7.2%) had miscellaneous cytogenetics. Seventy-one percent of patients were treated with MCP 841 protocol, while 29% of patients received BFM-ALL 95 protocol. The 3-year EFS and OS of the entire group were 52% and 58%, respectively. On univariate analysis, EFS and OS were significantly lower in t(9;22) compared to normal cytogenetics (P = 0.033 and P = 0.0253, respectively) and were not significant for other subgroups compared to normal cytogenetics. On multivariate analysis, EFS was significantly lower for t(9;22) and unfavorable subgroups. Conclusions: Cytogenetics plays an important role in the molecular characterization of ALL defining the prognostic subgroups. Patients with unfavorable cytogenetics and with t(9;22) have poorer outcomes

Prevalence and outcome of epidermal growth factor receptor mutations in non-squamous non-small cell lung cancer patients

Background: Epidermal growth factor receptor (EGFR) mutation analysis has become an important part of the initial workup of non-squamous non-small cell lung cancer (NS-NSCLC) patients as it is now recognized both as a prognostic and predictive marker to therapy with EGFR tyrosine kinase inhibitors (TKI). Aim: In this retrospective study conducted at a University hospital, we evaluated the prevalence of EGFR mutations in patients with NS-NSCLC, clinico-pathological correlation and outcome to treatment with EGFR TKIs. Materials and Methods: Case records of 147 patients of NS-NSCLC in whom EGFR mutation status was tested were screened. EGFR mutation analysis was done using DNA sequencing by real time polymerase chain reaction method from tissue and cell blocks prepared from core biopsy, fine needle aspiration cytology and pleural fluid specimens. Results: EGFR mutations were seen in 30.6% of the 111 evaluable specimens, with a significantly higher rate in females (44% vs 19.6% P = 0.0072) as compared to men and non-smokers (41% vs 12% P = 0.0013) as against smokers. Most common mutations were observed in exons 19 (71%) and 21 (25%). The estimated median progression free survival for patients with and without mutations when treated with upfront TKIs was 12 months and 3 months respectively and the estimated median overall survival for patients with and without mutations was 20 and 9 months respectively. Conclusion: This study from India, further establishes the importance of upfront EGFR mutation testing in all NS-NSCLC patients, not only to prognosticate, but also to identify that subset of patients who could benefit from EGFR TKI therapy, early in the course of their disease

Philadelphia chromosome-positive acute lymphoblastic leukemia: 8 years′ experience from a tertiary care center in India

Introduction: The Philadelphia chromosome (Ph) is the most common cytogenetic abnormality associated with adult acute lymphoblastic leukemia (ALL) occurring in 20% to 40% of patients. It is also detected in 2% to 5% of children with ALL. Historically, patients with Ph-positive ALL carried a dismal prognosis, with poor response to most chemotherapy combinations, short remission durations, and long-term disease-free survival rates of 10% to 20%. The advent of tyrosine kinase inhibitors (TKIs) has revolutionized therapy of Ph-positive ALL. Materials and Methods: This retrospective and descriptive single center study was carried out based on data retrieved of 508 patients treated for ALL from 2007 to 2014. Of these thirty patients were Ph-positive ALL and were available for analysis, and these patients were included in the study. Ph-positive ALL was defined as ALL carrying the t(9;22) translocation on standard karyotype and/or fluorescent in situ hybridization analysis and/or positivity for BCR-ABL fusion transcript detection by real-time quantitative polymerase chain reaction (RQ-PCR) analysis. Patients were treated with combination chemotherapy and oral TKIs and responses were classified as either CR defined by the absence of circulating blasts and <5% marrow blasts on a bone marrow examination done at the end of induction chemotherapy or failure, including persistent disease and early death. Results: There were 30 (5.9%) cases of Ph-positive ALL out of a total of 508 cases of ALL with a median age of 27.5 years (range: 7-55). The choice of first line TKI was Imatinib in 25 (83.3 %) patients and Dasatinib in 1 (3.3 %) patient. Fourteen patients (46.6 %) had a CR, 3 (10 %) had a partial response (PR), 8 (26.6 %) had persistence of disease at the end of induction chemotherapy. The overall survival in those who received sequential chemotherapy followed by TKI (n = 4) was 28.5 months (95% CI 10.78 to 46.21 months) compared with 13.98 months (95% CI 6.04 to 21.97 months) for patients who received concurrent chemotherapy and TKI (n = 20); log rank (Mantel Cox) X 2 = 8.33, P = 0.040), however limited sample precluded meaningful subgroup analysis. Conclusion: The results of our study showed that we still have a long way to go to match outcomes of western published series, even when the same treatment protocol is used, probably due to the underutilization of Allogeneic SCT as an option in first CR

Impact of treatment protocol on outcome of localized Ewing′s sarcoma

Background: The outcome of localized Ewing′s sarcoma has improved with multi-disciplinary approach. Survivals of Ewing′s sarcoma from the Asian countries differed between centers. Methods: We retrospectively analyzed the records of newly diagnosed localized Ewing′s sarcoma patients from 2002 to 2012. The patients were analyzed in three groups; Group 1(2002-2004) who received non-ifosfomide based regimens, Group 2(2005-2008) who received VDC/IE for 12 cycles, and Group 3(2009-2012), who received VDC/IE for 17 cycles. The groups were compared for their baseline characteristics, treatment protocol and outcome. Results: Seventy three patients were included in the study. The median age of presentation was 15 years, with slight male predominance. Axial primary was seen in 62%. The median RFS of the three groups was 26.4, 31.4 and 36.8 months respectively (P = 0.0018). The median OS was 27.9, 35 and 43 months respectively (P = 0.0007). At a median follow-up of 35 months, the 3 year RFS and OS for the three treatment groups were 17%, 31%, 60% and 35%, 45% and 70% respectively. Larger tumor size, axial primary, high LDH were associated with poorer survival. Radiotherapy was associated with inferior local control and survival. Conclusions: We found that the survival of our ESFT patients improved over time with intensified multiagent chemotherapy and with lesser time to local therapy. But the results were still inferior to those reported in literature. We had majority of patients presenting in axial site and radiotherapy as the predominant mode of local control. The outcome may further improve with surgery as local control procedure