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• W2116126256 abstract "In families with two or more cases of a lymphoproliferative malignancy (LPM), the overall risk of an LPM in a first-degree relative of a patient is only three- to fourfold that of the general population ( Pottern et al, 1991 ). The majority (70%) of familial cases involve relatives with different types of LPM ( Shpilberg et al, 1994 ). The determination of LPM subtype is therefore probably a late event in the evolution of the malignant clone, a hypothesis supported by the occurrence of sporadic composite cases of common clonal origin. The genetic risk factors for familial (and sporadic) LPM are presumed to be multifactorial. Recent publications have provided further evidence for genetic predisposition to non-Hodgkin's lymphoma (NHL) through evidence of anticipation in familial NHL and the description of a pair of monozygotic twins with follicular lymphoma (FL) ( Marco et al, 1999 ; Wiernik et al, 2000 ). This report describes a mother-daughter pair of patients with FL that transformed to diffuse large B-cell lymphoma (DLBCL) on whom comprehensive molecular investigations were performed in order to elucidate possible shared molecular features. The mother presented in August 1988, aged 54-years-old, with stage IA FL for which a radical course of radiotherapy was given with curative intent. Eight years later she relapsed with FL. Management was expectant until August 1996 when bone marrow transformation to DLBCL was discovered. A complete response was induced by five cycles of cyclophosphamide, doxorubicin, vincristine and prednisolone (CHOP) chemotherapy and consolidated in January 1997 using myeloablative therapy (carmustine, etoposide, cytarabine, melphalan; BEAM) with autologous peripheral blood stem cell (PBSC) rescue. However, the patient died of relapsed transformed disease in February 1998. The daughter presented with small volume, asymptomatic stage IV FL in January 1994, aged 36-years-old. The patient was managed expectantly until March 1995 when histology of a newly enlarged lymph node identified transformation to DLBCL. Myeloablative therapy (cyclophosphamide and total body irradiation) with PBSC rescue was given following a complete response to ‘VAPEC-B’ (vincristine, doxorubicin, prednisolone, etoposide, cyclophosphamide, bleomycin; a weekly, sequential chemotherapy regimen). Annual surveillance bone marrow and computerized tomography (CT) scan revealed FL in the bone marrow in January 1998. Repeat annual staging in January 1999, however, was entirely normal. The patient remains asymptomatic without clinical signs of lymphoma or further intervention. Molecular analysis revealed different Bcl-2 breakpoints in relation to the hallmark t(14;18)(q32;q21) chromosomal translocation of FL. Polymerase chain reaction (PCR) amplification of the patients' tumour DNA with major breakpoint (MBR) and minor cluster region (mcr) primers was followed by cloning and sequencing of the PCR products. The mother's lymphoma yielded a 646 base pair (bp) mcr product and the daughter's a 242 bp MBR product (see Fig 1). Comparative genomic hybridization (CGH) was performed on pre- and post-transformation tumour to compare large-scale genomic changes between the patients. The CGH profiles of the patient pair showed a distinct pattern of net gains and losses of chromosomal material (see Fig 1). Immunohistochemistry (IHC) was performed on pre- and post-transformation formalin-fixed paraffin-embedded tumour material from both cases to assess protein expression of Bcl-2, Bcl-6, c-Myc, p53, p-glycoprotein, Bax, cpp32, Mcl-1, cdc-2 and LMP-1. The staining intensity of p53 remained low in the daughter's lymphoma, while it increased markedly between the pre- and post-transformation specimens of the mother. The other staining patterns were unremarkable (data not shown). (a) CGH gains (normal text) and losses (underlined text) in genomic DNA from pre- and post-transformation lymphoma specimens from mother and daughter. (b) DNA sequence of Bcl-2/IgH breakpoint in mother and daughter lymphoma specimens. Neither the molecular findings nor the clinical course of the cases were the same. Both had FL and transformed to DLBCL, but over different time courses and with different outcomes. In case series of familial NHL and Hodgkin's disease (HD), a shorter median time interval between parent-child diagnoses compared with the median difference in their ages at their respective diagnoses has been noted. This observation supports the hypothesis of genetic anticipation occurring in familial NHL and HD ( Shugart, 1998; Wiernik et al, 2000 ). In the pair described, the mother was 54-years-old and the daughter 36-years-old at the time of their respective FL diagnosis; an age difference of 18 years. The difference in terms of the time between their diagnoses was only 5 years, in keeping with the possibility of genetic anticipation. It could also be argued that shared environmental exposures resulted in the LPMs both being FL in this mother-daughter pair and that shared exposures may in part account for the younger age at diagnosis of the daughter. The degree of genomic damage in tumours has been inversely correlated with survival ( Arribas et al, 1997 ). In keeping with this, the CGH results revealed considerably more genomic aberrations in the mother's post-transformation tumour than in the daughter's. Genetic polymorphisms that appear to be important risk factors for disease onset and outcome in NHL patients have been identified ( Warzocha et al, 1998 ). The nature and number of genetic factors and environmental exposures needed to initiate an LPM and to drive its evolution into a particular histological subtype (be it FL, HD, etc.) can only be speculated on at present. Systematic collation and molecular investigation of familial LPM cases will hopefully elucidate the environmental and multifactorial genetic risk factors that underlie haematological malignancies in familial and sporadic cases." @default.
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• W2116126256 date "2000-09-01" @default.
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• W2116126256 title "Familial follicular lymphoma: A Case Report with Molecular Analysis" @default.
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• W2116126256 doi "https://doi.org/10.1046/j.1365-2141.2000.02239-2.x" @default.
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