Familial germ cell tumor.

Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presence of germ cell malignancies in the siblings of different sex in the same family points toward a genetic susceptibility. Literature review revealed only six similar cases. A discussion regarding the rare occurrence of familial germ cell malignancies with the affected family members may be worthwhile.

Etoposide, cisplatin-etoposide, methotrexate, actinomycin-D as primary treatment for management of very-high-risk gestational trophoblastic neoplasia.

OBJECTIVE: To evaluate the efficacy of etoposide, cisplatin-etoposide, methotrexate, actinomycin-D (EP-EMA) chemotherapy as the frontline treatment for gestational trophoblastic neoplasia (GTN) patients with very high (≥ 12) FIGO prognostic scores. METHODS: Nine patients with very-high-risk GTN were treated with EP-EMA at the Cancer Institute, Adyar, India, between January 1, 2001, and December 31, 2007. Salvage chemotherapy, adjuvant surgery, and radiotherapy were used when indicated. Clinical response, toxicity, and survival were analyzed separately. RESULTS: The median FIGO score was 15. Six (66.7%) patients had a complete clinical response, whereas progressive disease occurred for 3 (33.3%) women. None of the patients relapsed. This translated to an overall survival rate of 66.7% in the primary setting. All patients with liver-only metastases were survivors after treatment with EP-EMA. Grade 3 neutropenia was detected in 3 (33.3%) patients only. No life-threatening toxicity was observed after EP-EMA treatment. CONCLUSION: EP-EMA was highly effective for the primary management of very-high-risk GTN.

Management of high-risk gestational trophoblastic neoplasia with etoposide, methotrexate, actinomycin D, cyclophosphamide, vincristine chemotherapy.

OBJECTIVE: To evaluate the efficacy and toxicity of etoposide, methotrexate, actinomycin D, cyclophosphamide and vincristine (EMA-CO) chemotherapy for the treatment of high-risk gestational trophoblastic neoplasia (GTN). STUDY DESIGN: Thirty-five patients with high-risk GTN were treated with 196 cycles of EMA-CO between 1997 and 2006. Twenty-nine patients received EMA-CO in the primary setting and another 6 after failure of single-agent chemotherapy. Salvage chemotherapy was offered to selected patients. RESULTS: Of the 29 patients treated with EMA-CO in the primary setting, 22 (75.8%) had a complete clinical response, 5 (17.1%) progressed, and 2 (7.1%) had early deaths. Three patients relapsed after achieving initial complete response. Five were treated with salvage chemotherapy, of which only 2 survived. This translated to overall survival rate of 71% in the primary setting. Five of the 6 patients treated with EMA-CO as second line are survivors. Life threatening toxicity was not seen after EMA-CO. Nine subsequent normal pregnancies were reported after EMA-CO. CONCLUSION: EMA-CO was highly effective for the management of high-risk GTN, and the toxicities were minimal. Reproductive outcome after treatment with EMA-CO was excellent.

Nonadherence to imatinib adversely affects event free survival in chronic phase chronic myeloid leukemia.

There is limited data on the impact of treatment interruptions due to nonadherence in patients with chronic phase chronic myeloid leukemia (CP-CML) treated with Imatinib. We looked at factors (including adherence to therapy) affecting the outcome in a large cohort of patients with CP-CML. All the 516 patients received Imatinib free-of-cost through a company sponsored scheme, which mandated regular three monthly visits for drug procurement. Data regarding the disease characteristics, adherence to treatment and outcomes, were obtained from patients records. Unwarranted interruption of treatment for more than 1 week was defined as nonadherence. With a median follow-up of 39 months, the estimated 5-year event free survival (EFS) was 70.8% (95%, CI = 63.3-78.3). Nearly one-third of the patients (29.6%) were found to be nonadherent at some point during their treatment. On univariate analysis, the factors adversely affecting the EFS were prolonged symptom duration before diagnosis, treatment with hydroxyurea for more than 1 month before start of Imatinib, and nonadherence to therapy. Only nonadherence was significant in multivariate analysis (HR1.6; P = 0.048). The 5-year EFS in adherent and nonadherent patients was 76.7% and 59.8% respectively (P = 0.011, log rank test). Nonadherent patients were less likely to achieve complete cytogenetic responses (26% versus 44%; P = 0.004; χ(2) test) at any point. A significant proportion of patients with CP-CML have drug interruptions due to nonadherence during therapy and this compromises the EFS. Adherence to therapy must be included as an important evaluation parameter in all future studies of CML.

Immune hemolytic anemia in a patient with tuberculous lymphadenitis.

Anemia in tuberculosis is usually anemia of chronic disease. Severe hemolytic anemia is exceedingly rare in tuberculosis patients. We report a patient diagnosed with tubercular lymphadenitis complicated by Coomb's positive hemolytic anemia. Patient responded well to antituberculous treatment. Hematological parameters improved after initiation of antituberculosis treatment. To the best of our knowledge, this is the first case from India of an adult patient with tuberculous lymphadenitis presenting with Coomb's positive hemolytic anemia.

Hepatoblastoma: Analysis of treatment outcome from a tertiary care center.

AIM: This study was designed to retrospectively review our experience with the multimodality management of hepatoblastomas (HB). MATERIALS AND METHODS: Thirteen patients were treated for HB between 2000 and 2007. The clinical presentations, chemotherapy tolerance and response, surgical procedure undertaken, and complications were analysed. RESULTS: Median age of the population was 12 months (3-60 months), with a male-to-female ratio of 3.3:1. Nine patients were treated with neoadjuvant chemotherapy incorporating cisplatin and adriamycin. Primary surgery was done in four patients. Extent of hepatic resection in the operated patients varied. Mixed type was the predominant histopathological diagnosis. Adjuvant chemotherapy was well tolerated with no morbidity or mortality. Five-year event-free survival (EFS) and overall survival (OS) of all the 13 patients is 76.9%. All the nine patients who could complete multimodality treatment are alive with no evidence of disease or complications with median follow-up of 63 months (46-122 months). CONCLUSIONS: Treatment of HB with multidisciplinary approach was well tolerated. OS and EFS of patients were comparable with published studies.

Malignant ectomesenchymoma of the nasal cavity.

Malignant ectomesenchymomas are rare tumors. This tumor affects predominantly young children. Most common site is head and neck. A multi modality approach should be appropriate for this soft-tissue tumor. We present a 43 year old female with malignant ectomesenchymoma of the nasal cavity.

Primary renal lymphoma mimicking renal cell carcinoma.

Primary renal lymphoma is very rare. Lymphomatous involvement of the kidney is often seen as a part of disseminated disease. The prognosis is usually poor with median survival less than a year. It is essential to differentiate between renal cell carcinoma and renal lymphoma in patients presenting with solitary renal masses. We present a 52-year-old lady who presented with a solitary renal mass and was diagnosed to have primary lymphoma of the kidney and discuss briefly about primary renal lymphoma.

Ataxia telangiectasia: Family management.

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.

Follicular dendritic cell sarcoma of the neck with an aggressive and fatal course.

Dendritic cell neoplasms are rare malignancies described with an increased frequency. They often involve the lymph nodes, but extranodal presentations are also described. The disease often has an indolent course. Surgery is the main modality though chemotherapy and radiation have also been tried. We present here a case of a 69-year-old male diagnosed to have follicular dendritic cell sarcoma of the neck which had a rapid and fatal course inspite of chemotherapy and radiotherapy. More studies are required to assess the biology of this rare tumor.

L-asparaginase induced fatal cortical venous thrombosis in acute lymphoblastic leukemia.

L-asparaginase has become an integral part in the treatment of acute lymphoblastic leukemia. The major worry of using L-asparaginase is thromboembolism. The case presented here is a 21-year-old lady who developed fatal cortical venous thrombosis during induction phase of treatment for ALL. Early recognition is very important to treat this potentially catastrophic yet treatable complication.

Clinicopathological analysis and outcome of primary mediastinal malignancies - A report of 91 cases from a single institute.

BACKGROUND: Primary mediastinal malignancies are uncommon. They can originate from any mediastinal organ or tissue but most commonly arise from thymic, neurogenic, lymphatic, germinal or mesenchymal tissues. OBJECTIVES: The aim of this study was to review the clinical presentations, diagnostic methods adopted, the histologies and the treatment outcomes of this rare subset of tumors. MATERIALS AND METHODS: Case records of 91 patients in the period 1993-2006 at our institute were retrospectively analyzed. Patients with primary mediastinal mass and supraclavicular nodes were included for the analysis. Patients with primary, extrathoracic disease of the lung and peripheral adenopathy were excluded. Actuarial method was used for calculating the disease-free survival and overall survival. RESULTS: Primary mediastinal tumors were seen commonly in males with mean age of 37.48 ± 17.04 years. As many as 97% of patients were symptomatic at presentation. Superior venacaval obstruction (SVCO) was seen in 28% of the patients. As many as 50% of the patients were diagnosed by a fine-needle aspiration or Trucut biopsy, while 28% of the patients required thoracotomy for a diagnosis. Majority of the tumors had anterior mediastinal presentation. Pleural effusion was seen in 20% of the patients, but diagnosis was obtained in only 1%. In adults, thymoma (39%), lymphoma (30%) and germ cell tumor (15%) were the common tumors. In the pediatric population, lymphoma, PNET and neuroblastoma were the common tumors. The 5-year DFS and OS are 50% and 55%, respectively. CONCLUSION: Primary mediastinal tumors are a challenge to the treating physician because of their unique presentation in the form of medical emergencies, like superior venacaval obstruction and stridor. Diagnosis may require invasive procedures like thoracotomy. Treatment and outcome depend on the histologic subtypes.