Gaurang Modi

Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India

The most frequent form of congenital dyserythropoiesis (CDA) is congenital dyserythropoietic anemia II (CDA II). CDA II is a rare genetic anemia in humans, inherited in an autosomally recessive mode, characterized by hepatosplenomegaly normocytic anemia and hemolytic jaundice. Patients are usually transfusion-independent except in severe type. We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. Patient has had up until now more than 14 mL/kg/month of packed cell volume (PCV), which he required every 15 to 20 days to maintain his hemoglobin of 10 gm/dL and hematocrit of 30%. His pre-HSCT serum ferritin was 1500 ng/mL and he was on iron chelating therapy. Donor was HLA identical sibling (younger brother). The preparative regimen used was busulfan, cyclophosphamide, and antithymocyte globulin (Thymoglobulin). Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis. Engraftment of donor cells was quick and the posttransplant course was uneventful. The patient is presently alive and doing well and he has been transfusion-independent for the past 33 months after HSCT.

Primary vaginal myeloid sarcoma: a rare case report and review of the literature.

Myeloid sarcoma (chloroma, granulocytic sarcoma, or extramedullary myeloid tumour) is an extramedullary mass forming neoplasm composed of myeloid precursor cells. It is usually associated with myeloproliferative disorders but very rarely may precede the onset of leukemia. Here, we are presenting a rare case of primary vaginal myeloid sarcoma in a geriatric female patient without initial presentation of acute myeloid leukemia (AML). A 68-year-old female patient with ECOG Performance Score of 1 presented with pervaginal bleeding for 20 days. On colposcopic examination, she was found to have mass in the anterior fornix of vagina. A punch biopsy specimen revealed chloromatous infiltration of the vagina. LCA (leukocyte common antigen), MPO (myeloperoxidase), and c-kit were strongly positive on IHC (immunohistochemistry). The patients routine blood investigations were normal including peripheral smear, lactose dehydrogenase, uric acid, 2D echocardiography, conventional cytogenetics, bone marrow aspiration, and biopsy. The patient was given 4 cycles of decitabine (Decitex, manufactured by Sun Pharmaceutical Industries Limited, India), 20 mg/m2 for 5 days at an interval of 28 days. There was a partial response to decitabine according to RECIST criteria. As decitabine therapy was well tolerated, we are continuing in the same way until disease progression without any complications. The patient is undergoing regular follow-up at our centre.

Primary Hepatic Burkitt Lymphoma: A Bizarre Site and Triumph Tale

Primary hepatic Burkitt lymphoma (PHBL) is an extremely rare form extra nodal lymphoma and till now only 11 case reports have been found in the literature. We are reporting an adult female with primary hepatic Burkitts lymphoma, who achieved complete remission after 5 months of combination chemotherapy containing vincristine, cyclophosphamide, doxorubicin, methotrexate, prednisolone and intrathecal chemotherapy. She is under regular follow up at our institute.

Paraneoplastic Recurrent Hypoglycaemic Seizures: An Initial Presentation of Hepatoblastoma in an Adolescent Male—A Rare Entity

Hepatoblastoma (HB) is a rare malignant tumour of the liver and usually occurs in the first three years of life. Hepatoblastoma in adolescents and young adults is extremely rare; nevertheless the prognosis is much worse than in childhood, because these kinds of tumours are usually diagnosed late. Characteristic imaging and histopathological and AFP levels help in the diagnosis of hepatoblastoma. Paraneoplastic features of hepatoblastoma are not uncommon at presentation and include erythrocytosis, thrombocytosis, hypocalcaemia, isosexual precocious puberty, and rarely hypoglycaemia. Even though hypoglycaemia is commonly seen in hepatocellular carcinoma, its association with hepatoblastoma is very rare. We present a case of 15-year-old male patient presenting with complaints of recurrent hypoglycaemic seizures ultimately leading to diagnosis of hepatoblastoma. Managed successfully with neoadjuvant chemotherapy, surgery and adjuvant chemotherapy with adriamycin and cisplatin based regimens. An extensive review of literature in the PubMed and MEDLINE did not reveal much data on paraneoplastic recurrent hypoglycaemic seizures as an initial presentation of hepatoblastomas in adolescents and young adults.

Primary Synovial Sarcoma of Kidney: A Rare Differential Diagnosis of Renomegaly

Synovial sarcomas (SS) are classified as subgroup of soft tissue sarcomas affecting mainly extremities of young adults. Primary SS of kidney are very rare tumours with poor prognosis. Though they have characteristic histology and immunohistochemistry (IHC) due to rarity of incidence it is difficult to diagnose them. Sometimes chromosomal rearrangement studies are required to confirm the diagnosis. We are presenting a case of 41-year-old male who was referred to our cancer centre for evaluation of left renal mass. CT scan of abdomen revealed a large left renal mass encasing the aorta. Biopsy of renal mass revealed poorly differentiated sarcoma and IHC was positive for vimentin, CD99, and BCL2 and negative for AE1, epithelial membrane antigen, and leukocyte common antigen. The patient was clinically inoperable as renal mass was encasing the aorta. So he was subsequently offered palliative chemotherapy in form of ifosfamide and adriamycin. CT abdomen shows partial response after 3 cycles of chemotherapy according to RECIST criteria.

Interdigitating dendritic cell tumor: A rare case report with review of literature

Interdigitating dendritic cell tumor/sarcoma (IDCT) is a very rare and aggressive neoplasm arising from antigen-presenting cells. It usually involves lymph nodes, but extranodal sites can also be involved. Because of the rarity of the disease, consistent standard treatment guidelines have not been established till date. We report a case of a 35-year-old female who presented with right-sided neck swelling and anterior mediastinal mass. Histopathology revealed large mononucleated cells with background of mixed polymorphous inflammatory cells suspicious of Hodgkins lymphoma. Hence, to confirm the diagnosis, immunohistochemistry was done. Immunohistochemistry revealed that the tumor was CD30 – negative, CD10 – negative, CD2 – negative, leukocyte common antigen – positive, vimentin – positive, and S-100 – positive, diagnostic of IDCT. Patient was treated with eight cycles of cyclophosphamide, doxorubicin, vincristine, and prednisolone regimen chemotherapy followed by involved field radiotherapy and showed dramatic response with complete resolution of mediastinal mass.

Pulmonary toxicity following bleomycin use: A single-center experience

Background: Bleomycin-induced pulmonary (BIP) toxicity is a notorious entity and cropped up in roughly 10% of cases. The aim of the study is to evaluate BIP at our tertiary care cancer center. Patients and Methods: This is a retrospective, analytical study conducted at a tertiary care center from January 1998 to December 2012. Records of all the patients who were offered bleomycin chemotherapy as an integral part of adriamycin, bleomycin, vinblastine, and dacarbazine or bleomycin, etoposide, and cisplatin regimen in Hodgkin disease (HD) or germ cell tumor (GCT) were studied for the study inclusion criteria. Twenty-two patients treated with bleomycin who had respiratory symptoms and/or abnormal high-resolution computed tomography (HRCT) findings, suggestive of bleomycin-induced lung injury were included in this study. Results and Statistical Analysis: A total of 22 patients met the inclusion criteria for the study cohort. Of 22 patients, 8 were of HD and 14 were of GCT (nonseminomatous GCT [NSGCT] = 10 and seminomatous GCT = 4). Of 22 patients, 14 had symptoms of nonproductive cough, dyspnea and showed HRCT findings of ground glass opacities, diffuse alveolar damage, extensive reticular markings, traction bronchiectasis, and/or nodular densities. Two patients had fever and pleuritic pain. Eight patients were asymptomatic. Symptomatic patients were treated with prednisone at the dose of 0.75–1 mg/kg 4–8 weeks then gradually tapered. Four patients required noninvasive ventilatory support and managed with oxygen, nebulization, and antibiotics. Two patients required mechanical ventilatory support (HD = 1 and NSGCT = 1) and developed multiorgan failure subsequently succumbed to death. Conclusion: BIP is noteworthy lung toxicity as subsequent mortality ranges from 10% to 20% and shrinks survival rate in patients with highly curable malignant conditions. Physicians should be vigilant concerning this impending side effect.

Treatment of breast cancer in a patient of Alport syndrome-induced chronic renal failure: A triumph story

Alport syndrome is a hereditary disease of the glomerular basement membrane, characterized by the familial occurrence of progressive, hematuric nephropathy with sensorineural deafness. We are reporting here a young adult female, suffering from Alport syndrome with significant family history and on maintenance twice-weekly hemodialysis (HD), had been diagnosed with triple negative earlystage right-sided breast cancer. The patient was managed successfully with surgery and adjuvant chemotherapy with 3 cycles of 5-flurouracil, doxorubicin, and cyclophosphamide and 3 cycles of docetaxel. In this case, our clinical challenge was dose reduction of chemotherapeutic agents according to creatinine clearance and timing of HD in each cycle of chemotherapy. We confronted this by dose reduction of cyclophosphamide and timing of chemotherapy was at least 12 h after HD for each and every cycle. Patient is in regular follow-up in our department since 20 months without any recurrence of the disease.

Primary Vaginal Ewing’s sarcoma: A Rare Case Report

Extra skeletal Ewing’s sarcoma (EES) is an uncommon, rapidly growing, and round-cell malignancy of uncharacterized mesenchymal cell origin. The extra skeletal forms usually occur in the soft tissue of lower extremities, para vertebral tissues, chest wall, and retro peritoneum. Extra osseous ES are uncommon, with occasional reports of tumors affecting the genitourinary tract. Only few cases of primary vaginal Ewing’s sarcoma have been previously reported in the literature (only 22 cases). Ewing sarcoma (ES) and Primitive Neuroectodermal Tumor (PNET) family of tumors were classified differently in the past. But now due to their common molecular and clinical features they are considered as single tumor category known as Ewing family of tumors (EFTs) [1]. More than 90 % of these tumors contain Ewing Sarcoma RNAbinding protein 1(EWSR1)-FLI1fusion protein due to t (11; 22) (q24; q12) chromosomal translocation.

Experience of hematopoietic stem cell transplantation (HSCT) in the patients infected with either hepatitis B or hepatitis C virus

Background: Hematopoietic stem cell transplantation (HSCT) is challenging in Hbs-Ag positive or HCV-Ab positive patients due to fear of delaying engraftment and transplant-related mortality (TRM). Very few data are published internationally till date. We had done HSCT (allogenic/autologus) of 19 hepatitis B and hepatitis C positive malignant and nonmalignant patients at our institute during the years 1999–2013. Design and methods: We performed a retrospective analysis of the patients who were either hepatitis B or hepatitis C virus seropositive at the time of HSCT (n = 19). All the positive patients (Hbs-Ag positive or HCV-Ab positive) who underwent HSCT for malignant or nonmalignant causes during 1999–2013 were selected. A total of 13 patients underwent autologus HSCT and 6 patients underwent allogenic HSCT. All the included patients had performance score 1, normal liver function test, and noninfectious state of Hbe antigen before HSCT. Results: The median age of the seropositive patients was 25 years (range 7–54); 16 patients were Hbs-Ag positive and 3 were HCV-Ab positive. Most common indication of HSCT was lymphoma (n = 12), in which 7 patients were of Hodgkin disease and 5 patients were of non-Hodgkin disease (NHL). Three patients were acute myeloid leukemia, 2 patients of thalassemia major, 1 patient was of chronic myeloid leukemia-chronic phase, and 1 of multiple myeloma. We had used high-dose chemotherapy for induction with carmustine, etoposide, cytarabine, and melphalan (BEAM) for autologus HSCT and busulfan, cyclophosphamide (BUCY), busulfan, cyclophosphamide-thymoglobulin (BUCY-THYMO), and reduced intensity HSCT (RIST) for allogenic HSCT. All the patients underwent successful engraftment except one NHL patient. The median duration of neutropenia was 14 and 11 days in the allogenic HSCT and autologus HSCT, respectively. Median duration for engraftment of neutrophils was achieved on +Day 17 with 3 consecutive absolute neutrophil counts of more than 500 cumm/dL. Median duration for engraftment of platelets was achieved on +Day 19 with 3 consecutive platelet counts of more than 50,000 cumm/dL without any component support. Out of 6 allogenic HSCT patients, 4 developed graft versus host disease (GVHD) (2 – liver, 1 – colon, 1 – both skin and liver). Three patients died due to liver GVHD (2 – acute, 1 – chronic). Grades of GVHD in allogeneic HSCT patients are as follows, for liver (grade 3 in 2, grade 4 in 1), colon (grade 2 in 1), and skin (grade 2 in 1). Out of the 8 patients, one patient developed grade 3 veno-occlusive disease. Median at 100 days, 1-year overall survival (OS), and 5-year OS were 89.4%, 94.1%, and 81.1%, respectively. Conclusions: HSCT is a rugged job in Hbs-Ag positive or HCV-Ab positive patients due to more complications in the form of more neutropenia, GVHD, drug toxicity of chemotherapy, acute fulminant liver failure, fear of delaying of engraftment, and TRM. Careful evaluation before embarking on HSCT and intensive assessment against complications are warranted in Hbs-Ag positive and HCV-Ab positive recipients.