Chromosome 7q31 Amplification in Fluorescence In-Situ Hybridization: A Hallmark of Hepatosplenic Gamma Delta T Cell Lymp
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Chromosome 7q31 Amplification in Fluorescence In-Situ Hybridization: A Hallmark of Hepatosplenic Gamma Delta T Cell Lymphoma Alpeshkumar Bipinbhai Kapadia1 • Shano Naseem1 • Man Updesh Singh Sachdeva1 Sreejesh Sreedharanunni1
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Received: 5 September 2020 / Accepted: 5 November 2020 Ó Indian Society of Hematology and Blood Transfusion 2020
A 16-year-female presented with history of irregular fever of five-month duration and left upper quadrant pain. She had moderate pallor, mild hepatomegaly and massive splenomegaly. Hemogram showed pancytopenia (hemoglobin-71 gm/L, total leucocyte count-2.0 9 109/L and platelet count-34 9 109/L). Peripheral blood film showed normal differential leukocyte counts with presence of nucleated red cells. Clinical, bone marrow (Fig. 1a–c), immunophenotypic findings (Fig. 1d–i) and T cell receptor gamma gene re-arrangement assay (Fig. 2a) were consistent with a diagnosis of hepatosplenic T cell lymphoma of gamma-delta T cell receptor type (cdHSTL). Fluorescence in-situ hybridization (FISH) testing showed 5–7 copies of 7q31 and two copies of centromere 7 consistent with amplification of 7q31 locus (Fig. 2b). Patient received
3 cycles of CHOP (Cyclophosphamide, Doxorubicin, Vincristine and Prednisolone) therapy till last follow up. Patient responded well with improvement in symptoms and hemogram findings (hemoglobin-139 g/L, leukocyte count6.5 9 109/L and platelet count-83.0 9 109/L). Amplification of 7q22-q31 results from either isochromosome 7q [(i7)(q10)] or ring 7 (r7) [1]; and results in not only the gain of several putative cancer genes in 7q22-31 region, but also loss of genes in 7p favouring tumour growth [2]. While, (i7)(q10) and r(7) are hall mark findings identified by karyotyping in cdHSTL, the demonstration of amplification of 7q31 by a dual-colour FISH is an alternative costeffective method to establish the diagnosis in patients with a diagnostic dilemma with closely related differential diagnoses including T-lineage acute lymphoblastic leukaemia-cd type.
& Sreejesh Sreedharanunni [email protected]; [email protected] 1
Department of Hematopathology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
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Indian J Hematol Blood Transfus
Fig. 1 (a) The bone marrow aspirate showing atypical large cells with prominent nucleoli and moderate to abundant amount of cytoplasm and occasional atypical cell (Inset) showing evidence of hemophagocytosis (May-Grunwald Giemsa;4009); (b) Trephine biopsy showing interstitial and sinusoidal infiltrate of atypical lymphoid cells giving a ‘‘fried-egg appearance’’ (Hematoxylin and
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Eosin stain; 4009); (c) Intrasinusoidal infiltrate highlighted by CD3 immunostain; (d–i) Flow cytometry findings: Gated CD7 positive cells shows positivity for surface CD3, CD2, T cell receptor (TCR) cd, CD56 (subset) and CD57 (dim heterogeneous) and are negative for TCRab, CD4, CD5, CD8. B cell, myeloid and immaturity associated markers were negative
Indian J Hematol Blood Transfus revision of manuscr
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