Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Myoadenylate deaminase deficiency (MADD) is the most common metabolic muscle disorder. Here we report the largest study to date of MADD in Spanish patients, including clinical, histological, and molecular data. Most of the patients presented with moderate clinical symptoms of exercise intolerance, including myalgia, fatigability and cramps. In 70% of the patients, serum creatine kinase (CK) was elevated. Muscle biopsy showed mild, nonspecific alterations with absent histochemical reaction for MAD. Eight cases ofMADD were coincidental with other associated diseases, and had more severe tissue alterations upon muscle biopsy. The mutation C34T in the MAD gene was present in a homozygous state in 26 of the 27 patients. One patient was a compound heterozygote for the C34T/G468T mutations. We conclude that MADD should be suspected in patients with exercise intolerance and with idiopathic hyperCKemia. Since symptoms may be subtle, we recommend routine histochemical analysis of MAD in all muscle biopsies, followed by molecular analysis in MAD-negative cases.

Dermatofibrosarcoma protuberans localizado en la mama / No disponible

El dermatofibrosarcoma protuberans (DFSP) es un tumorraro que se origina en la piel y partes blandas de grado bajo ointermedio de malignidad. Es un tumor que raramente metastatizapero su comportamiento es localmente agresivo, conuna alta tasa de recidiva.Se presenta un caso clínico de DFSP localizado en la mamaque fue tratado con cirugía, con excisión de amplios márgenesy se hace una revisión de la literatura existente(AU)

Dermatofibrosarcoma protuberans (DFSP) is a rare tumorof soft tissues of low-grade or intermediate malignancy. It is atumor that rarely metastasizes but their behavior is locally aggressive,with a high rate of recurrence.A clinical case of DFSP located in the breast who was treatedwith surgery with excision of large margins is presented. Arevision of existing literature is also made(AU)

Light-chain-restricted germinal centres in reactive lymphadenitis: report of eight cases.

AIMS: Light-chain-restricted germinal centres are generally associated with the existence of a neoplastic lymphoproliferative disorder. The aim was to present a series of cases with persistent lymph node enlargement that featured some germinal centres showing light chain immunoglobulin restriction. METHODS AND RESULTS: A series of six reactive lymphadenitis and two Castleman's disease cases was analysed by immunohistochemistry, IgH-polymerase chain reaction (PCR) and microdissected PCR. In all cases some germinal centres contained a population of plasma cells and plasmacytoid germinal centre cells showing light chain immunoglobulin restriction. In three cases the monotypic cells also showed distinct Bcl-2 expression. Two of the cases showed a predominant IgH rearrangement on a florid polyclonal background and one had an IgH monoclonal rearrangement, as revealed by PCR. Microdissected germinal centre PCR revealed a dominant repeated band in one of three cases and in another case a non-repeated clonal peak was observed. One of the patients developed a follicular lymphoma, which became evident from a subsequent biopsy. CONCLUSIONS: These findings may be a manifestation of an underlying disorder in the regulation of the immune response, or an exaggeration of the germinal centre oligoclonal nature. This should be taken into account in the differential diagnosis of follicular hyperplasia.