Clinical, hematological and cytogenetic profile in fibroblast growth factor receptor 1 rearranged hematoloymphoid malignancies

The background of this study is FGFR1 belongs to a family of four, high-affinity receptor tyrosine kinase and is a legitimate oncogene associated with uterine, cervical, prostate, bladder, colorectal and lung cancers. It is rarely concomitant in myeloid and lymphoid neoplasms but has an aggressive clinical course with a high mortality rate when present. Cytogenetic abnormalities involving the FGFR1 gene is most frequently observed in AML, MPN with eosinophilia, T-ALL and T-LBL with ZMYM2 gene being the most common fusion partner. Methods of this study was to authors report a series of 4 cases with FGFR1 rearrangements. Results is three patients presented as T-cell Lymphoblastic lymphoma (T-LBL) and one as mixed phenotype acute leukemia (MPAL). The T-LBL cases harboured the FGFR1/ ZMYM2 fusion and the MPAL case harbored the CNTRL/FGFR1 fusion as identified by conventional cytogenetics and confirmed by molecular studies. Conclusion is authors herewith describe the clinical, biochemical, molecular and cytogenetic features observed in these cases.

Long term clinical outcomes of adult hematolymphoid malignancies treated at Tata Memorial Hospital: An institutional audit

Introduction: There is paucity of data from India about the outcomes of patients with various hematological malignancies. Since its formation in 2009, the adult hematolymphoid disease management group of the Tata Memorial Centre is dedicated to the treatment of hematological malignancies alone. In this report, we present the outcomes of patients treated at our centre over a 5 year period for various haematological malignancies in both transplant and non-transplant setting. Methods: This is a retrospective analysis of all patients registered in adult hematolymphoid disease management group between 1st January 2010 to 31st December 2014. Patients not treated at our centre were excluded from survival analysis. The cut off date for survival analysis was 31st January 2016. Results: Overall, 1869, 3633 and 544 patients with acute leukemias, various lymphomas and myeloma respectively were registered at our centre from 1st January 2010 to 31st December 2014. Of these, 1178 (63%), 3091 (85%) and 454 (83%) respectively received treatment at our centre. The cumulative probability of 5 year overall survival for patients with acute leukemias, Hodgkin's lymphoma, non-Hodgkin lymphoma and myeloma treated at our centre is 40%, 85%, 78% and 40% respectively. Four hundred and fifteen stem cell transplants were done between 14th November 2007 to 31st December 2014 with 46% being allogeneic and 54% being autologous. The 5 year overall survival of patients with allogenic and autologous transplant was 52% and 63% respectively. Conclusions: This is the largest single centre data on outcomes of various haematological malignancies from India. This real world data identifies areas which need further attention to improve outcomes.

Lymphoblastic leukemia with surface light chain restriction: A diagnostic dilemma.

Surface light chain expression is a feature of mature B‑cell neoplasms. Light chain restriction in precursor B acute lymphoblastic leukemia is infrequently seen. We report a case of a 28‑year‑old female with non‑FAB L3 morphology blasts and immunophenotypic features showing overlap between a precursor and mature B‑cell neoplasm.

‘Childhood systemic mastocytosis associated with t (8; 21) (q22; q22) acute myeloid leukemia’.

Systemic mastocytosis (SM) with associated clonal nonmast cell lineage disease is seen in up to 20% cases of SM. SM is uncommon in the pediatric population. T (8; 21) (q22; q22) is a good prognostic factor in acute myeloid leukemia (AML). However, the presence of SM confers poor prognosis in t (8; 21) (q22; q22) associated AML. We report the case of a child with t (8; 21) (q22; q22) associated AML with SM and her minimal residual disease status over the course of her treatment. In our case, the abnormal mast cells, showing co‑expression of CD25 and CD2, persisted even after the marrow showed no evidence of residual AML.

Report of proceedings of the national meeting on "Guidelines for Immunophenotyping of Hematolymphoid Neoplasms by Flow Cytometry".

BACKGROUND: Immunophenotyping of hematolymphoid neoplasms is being done in many laboratories in India. The first national meeting on "Guidelines for Immunophenotyping of Hematolymphoid Neoplasms by Flow Cytometry" was held on 14 March 2008 in Mumbai, India. AIM: To achieve uniformity in the laboratory practice regarding antibody panel selection in diagnosing hematolymphoid neoplasms. SETTINGS AND DESIGN: Members of the Inter-Laboratory Comparison Program (ILCP) group in Mumbai prepared a draft regarding immunophenotypic panel selection for acute leukemias (ALs) and chronic lymphoproliferative disorders (CLPDs), which was further circulated among national and international cytometrists, hematopathologists, and oncologists for their written inputs, suggestions, proposed modifications; as well as their indications, if any, of the recommendations not being acceptable. Practice-based questionnaire was circulated among all the participants. RESULTS: Consensus was attained, and the panel recommended the use of a minimal screening panel, followed by a secondary directed panel. The aim of the minimal screening panel would be to provide a diagnosis of all commonly occurring hematolymphoid neoplasms without the need of additional antibodies in most cases. CONCLUSION: Thus we could attain a consensus for our guidelines in selecting panels for ALs and CLPDs. The guideline is an attempt to formulate a minimal panel for immunophenotyping of hematolymphoid neoplasms. Laboratories are encouraged to add additional antibodies to the above panel to increase the sensitivity; however, they should refrain from immunophenotyping with fewer antibodies. This national guideline hopefully brings about uniformity and comparability in reporting of leukemia and lymphoma and bridges the divide between low-cost reporting and an accurate diagnosis.

Polyphenotypic peripheral neuroepithelioma occuring in the foot: a case report.

Peripheral neuroepithelioma of the soft tissues is an uncommon member of primitive neuroectodermal tumors. Divergent differentiation and polyphenotypia is known in peripheral neuroepithelioma. We report one such recurrent peripheral neuroepithelioma in an infant which was detected at one month of age, in the foot. Microscopically, it showed tumor cells in nests and lobules with abundant Homer-Wright rosettes. Immunohistochemically, tumor cells were immunoreactive for neural markers but also displayed an aberrant myoid phenotype. The prognostic implications of this anomalous phenotype are unclear as of now, but documentation of this is necessary for possible future references.

Atypical Whipple's disease.

We report an unusual case of Whipple's disease diagnosed with help from the patient himself. The patient presented with rash resembling dermatitis herpetiformis, constipation, and intermittent diarrhea. A suspicion of celiac disease led to duodenal biopsy, which showed features of Whipple's disease on histology and electron microscopy.

Parathyroid adenoma with ectopic intrathymic parathyroid--a case report.

We report here a 14 year female who complained of a swelling in left flank, multiple fractures of the left humerus and tibia and a solitary nodule on the left side of the neck. Relevant investigations suggested a parathyroid adenoma. Surgical exploration of the neck was done. The adenoma was excised along with a suprasternal swelling. Histopathological examination confirmed the parathyroid adenoma of the mixed chief and oxyphil type. An incidental finding of an intrathymic parathyroid was also made. This article highlights the significance of detecting ectopic glands in abnormal locations. If undetected, these ectopic rests are subject to neoplastic change. They mimic a variety of neoplasms in these ectopic sites. Immunohistochemistry may aid in resolving this dilemma. They are also subject to functional activity and hence necessitate removal by the surgeon at the first sitting, having detected these abnormally located parathyroid tissues.