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  • Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation

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Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation
  1. N P H Chan1,
  2. M H L Ng1,
  3. S H Cheng1,
  4. V Lee2,
  5. K S Tsang1,
  6. T T Lau1,
  7. C K Li2
  1. 1Departments of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China
  2. 2Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China
  1. Correspondence to:
 Dr M H L Ng, Haematology Section, Department of Anatomical and Cellular Pathology, The CUHK, PWH, Shatin, NT, Hong Kong SAR, China;
 margaretng{at}cuhk.edu.hk

https://doi.org/10.1136/jmg.39.12.e79

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    Aberrations of the long arm of chromosome 1 have been linked to many diseases, both in acquired somatic neoplastic conditions and constitutional genetic disorders. These abnormalities include structural rearrangements and various deletions or amplifications affecting whole chromosome arms or specific regions. Gain of chromosome 1q has been reported in many solid tumours, including invasive carcinomas of the breast, cervical cancers, renal cell carcinoma, sarcomas, and hepatocellular carcinomas.1–6 Complete or partial trisomy of 1q has been reported in cases of acute myeloid leukaemia, myelodysplastic syndrome, myeloproliferative diseases, Fanconi anaemia, and B lineage lymphomas, where involvement of 1q21 is frequently observed.7–14

    CASE REPORT

    The index patient, born to unrelated parents, first presented at another hospital in 1998 at the age of 9 years with a two month history of left groin lymphadenopathy. A lymph node biopsy showed two populations of lymphoreticular neoplastic cells, with positive staining for CD3, Tdt, and myeloperoxidase. No mediastinal mass was identified. Bone marrow (BM) biopsy and cerebrospinal fluid (CSF) cytology were both negative. BM cytogenetic study was reported to be normal (46,XY (20)). He was diagnosed as having acute mixed phenotypic lymphoma/leukaemia. Complete remission was achieved with hybrid chemotherapy completed in August 2000. However, he presented again in January 2001 with a few days’ history of fever, petechial rash, right eye proptosis, and diplopia. Clinically, he showed pallor, petechiae, hepatomegaly, and multiple right cranial nerves palsies (III, IV, V, and VI). Peripheral blood showed pancytopenia and the presence of blasts. BM examination confirmed T lymphoblastic lymphoma/leukaemia relapse. The blasts were negative for myeloperoxidase, Sudan Black B, chloroacetate esterase, and periodic acid-Schiff reaction. They expressed CD3, CD7, and Tdt, but no other B lineage markers (CD10, CD19, CD20, CD22, IgM) nor CD13, glycophorin A, or CD61. A repeat BM cytogenetic study showed that there were both …

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