The clinical utility of genetic testing of tissues from pregnancy losses.

Objective: To map the current testing being undertaken following pregnancy loss across the UK and to examine the clinical utility in terms of identifying a cause for the loss and in identifying couples at risk of an unbalanced liveborn child.

Design: Retrospective audit.

Setting: UK, for the year 2014.

C-MYC translocation in t(14;18) positive follicular lymphoma at presentation: An adverse prognostic indicator?

Follicular lymphoma (FL) is a common subtype of low grade B-cell non-Hodgkin lymphoma (NHL). Although this form of lymphoma often pursues an indolent course, in some cases it may behave in a more aggressive manner. Clinical and histological parameters have been shown to correlate with an adverse prognosis but a number of cytogenetic abnormalities may also be associated with aggressive disease.

Kikuchi's disease displaying a t(2:16) chromosomal translocation.

Kikuchi's disease is a rare self-limiting lymphoproliferative condition of unknown aetiology, characterised by acute or subacute necrotising lymphadenitis. It is a benign condition that can mimic malignant lymphoma. In this report, a case of Kikuchi's disease associated with a chromosomal abnormality is described.

BCL2 gene abnormalities define distinct clinical subsets of follicular lymphoma.

Aims: Follicular lymphoma (FL) arising primarily in the skin has recently been proposed as a distinct entity on the basis of a low incidence of t(14;18)(q32;q21) and bcl-2 expression, with a very high percentage of patients surviving more than 5 years. However, cases of t(14;18)(q32;q21)-positive primary cutaneous FL (PCFL) and examples of t(14;18)(q32;q21)-negative FL at nodal and other extranodal sites, are well documented. The aim of this study was to test the hypothesis that there is a subtype of FL lacking t(14;18)(q32;q21), which preferentially involves certain sites but is not restricted by anatomical location.

Efficacy of screening the intermediate cluster region of the bcl2 gene in follicular lymphomas by PCR.

Background: The t(14;18) translocation is a common finding in nodal follicular B cell lymphomas and diffuse large B cell lymphomas, and results in the overexpression of the antiapoptotic bcl2 protein. This chromosome rearrangement can be detected by the polymerase chain reaction (PCR), with most breakpoints in the bcl2 gene occurring within either the major breakpoint region (mbr) or the minor cluster region (mcr). However, recent investigations have revealed several breakpoints between these two regions, which cluster 19 kb 3' of mbr in the "intermediate cluster region" (icr).

Extranodal follicular lymphoma: a clinicopathological and genetic analysis of 15 cases arising at non-cutaneous extranodal sites.

Aims: Recent studies of primary cutaneous follicular lymphoma suggest that it represents a clinicopathological entity distinct from nodal follicular lymphoma (FL). The purpose of this study was to determine if FL arising at other extranodal sites is more closely related to FL occurring in the skin or in lymph nodes.

Methods And Results: Fifteen cases of non-cutaneous extranodal follicular lymphoma (ENFL) were identified from the Scotland and Newcastle Lymphoma Group (SNLG) database.

Primary cutaneous diffuse large B-cell lymphoma: prognostic significance of clinicopathological subtypes.

Classification and subdivision of primary cutaneous diffuse large B-cell lymphoma (PCDLBCL) are a matter of ongoing debate. In this study we assessed the morphologic, immunophenotypic, and clinical features of 30 cases of PCDLBCL identified during a review of all primary cutaneous B-cell lymphomas in the Scotland and Newcastle Lymphoma Group database. We also determined the number of cases harboring t(14;18) using a polymerase chain reaction and primers to the major breakpoint cluster region.

Cytogenetic evidence for the origin of neoplastic cells in CD5-positive marginal zone B-cell lymphoma.

We describe an 87-year-old female patient presenting with a breast lump and axillary lymphadenopathy. Histological examination revealed the lump to be a CD5-positive extranodal marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue. Subsequent staging revealed disseminated disease including the head and neck region.

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

We report a seven generation family in which a 2;11 chromosome translocation is segregating. Both unbalanced segregants have been found in the family, and cytogenetic analysis demonstrates that this results in effective monosomy or trisomy for chromosome band 2q37.3.

Follicular lymphoma with marginal zone differentiation: cytogenetic findings in support of a high-risk variant of follicular lymphoma.

Aims: The pathogenesis and clinical significance of marginal zone differentiation in follicular lymphoma remains to be determined, although genetic alterations are likely to be important determinants of both. We therefore report the cytogenetic findings in three cases of follicular lymphoma with marginal zone differentiation studied by routine karyotyping and in-situ hybridization.

Methods And Results: The morphology and immunophenotype of each case was typical of follicular lymphoma displaying marginal zone differentiation.

Primary cutaneous follicular lymphoma: a clinicopathologic and molecular study of 16 cases in support of a distinct entity.

Primary cutaneous B-cell lymphomas displaying a prominent follicular growth pattern are rare and remain poorly defined, particularly in terms of the frequency of detection of t(14;18) and whether or not, as a group, they represent an entity distinct from follicular lymphoma arising in lymph nodes. The morphologic, immunophenotypic, and clinical features of 16 cases of primary cutaneous follicular lymphoma, identified during a review of all PCBCL in the Scotland and Newcastle Lymphoma Group database, were studied and the number of cases harboring t(14;18) assessed by polymerase chain reaction using primers to the major breakpoint cluster region. Comparisons were made with stage I follicular lymphoma arising in lymph nodes and follicular lymphoma secondarily involving the skin.

Lymphadenopathy and lymph node infarction as a result of gold injections.

This report describes a case of lymphadenopathy and lymph node infarction as a consequence of intramuscular gold administered to a patient suffering from rheumatoid arthritis, to highlight this rare association. A 34 year old woman with a four year history of rheumatoid arthritis affecting multiple joints was started on intramuscular gold injections after little response to anti-inflammatory medication. After her sixth injection the patient developed enlarged neck and axillary lymph nodes.

Borrelia burgdorferi-associated cutaneous marginal zone lymphoma: a clinicopathological study of two cases illustrating the temporal progression of B. burgdorferi-associated B-cell proliferation in the skin.

Aims: A relationship between Borrelia burgdorferi and primary cutaneous B-cell lymphoma (PCBCL) has recently been confirmed following demonstration of the organism in lesional skin of patients with PCBCL. We report herein two cases of B. burgdorferi-associated PCBCL which strengthen this association by demonstrating the organism in cutaneous B-cell infiltrates present at sites in which PCBCL subsequently developed.

Primary cutaneous B-cell lymphoma and Borrelia burgdorferi infection in patients from the Highlands of Scotland.

Although a link between primary cutaneous B-cell lymphoma (PCBCL) and Borrelia burgdorferi infection has long been suspected, previous studies have not demonstrated a significant association. The authors looked for evidence of B. burgdorferi in 20 cases of PCBCL from the Scottish Highlands, an area with endemic Lyme disease, and compared their findings with those in 40 control patients (20 undergoing wide reexcision at sites of malignant melanoma and 20 biopsies of inflammatory dermatoses).

Lack of expression of P-glycoprotein in 7 small cell lung cancer cell lines established both from untreated and from treated patients.

The establishment and characterisation of 7 small cell lung cancer cell lines is described. Four cell lines were established from biopsies taken from untreated patients and one of these was from primary tumour taken via the fibreoptic bronchoscope. The other three were from biopsies taken from patients who had relapsed after chemotherapy.

Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man.

Studies of spermatogenesis in an XYY male, presenting at a subfertility clinic, confirm the tendency for the germ cells to lose the second Y chromosome but for some XYY cells to reach metaphase I (MI). Light microscope studies of MI revealed the presence of YY bivalents and EM studies of microspread, silver-stained pachytene stages showed 30% of the cells to have two Y chromosomes; 13 out of 16 of these showing a YY synaptonemal complex. Strikingly, the Y axes show only partial synapsis; in no case was synapsis of the long arm heterochromatic regions apparent.

45,X/46,X dic (Y) mosaicism in a phenotypic male.

Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.

Inv dup (15) with mental retardation but few dysmorphic features.

We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in all cases there appears to be an additional G group sized chromosome in which both ends are derived from the short arm, centromere, and proximal long arm of chromosome 15.