Biomedical subjects

V Rigau

Publications and source records attributed to V Rigau.

4 recordsLinked to original sources

PubMed2026

Clinically actionable genomic alterations in breast cancer brain metastases.

BACKGROUND: Breast cancer brain metastases (BCBMs) represent a critical unmet clinical need in metastatic breast cancer (MBC) and the identification of novel therapeutic targets is urgently needed in this context. In this study, we describe clinically actionable targets in BCBMs using comprehensive genomic profiling. PATIENTS AND METHODS: Genomic DNA was extracted from formalin-fixed paraffin-embedded archival BCBM samples and analyzed using the commercially available Agilent SureSelect V6 whole exome sequencing (WES) kit and an Illumina NovaSeq 6000 platform. Pathogenic alterations were classified as actionable alterations (AAs) if they met the updated MBC or tumor-agnostic ESMO Scale for Clinical Actionability of Molecular Targets (ESCAT) I or II criteria of the ESCAT scale. RESULTS: WES data from 56 BCBM samples were available [33.9% hormone receptor (HR)-negative/human epidermal growth factor receptor (HER)2-negative; 25.0% HR-positive/HER2-negative; and 38% HER2-positive]. ESCAT I/II AAs were detected in 76.8% (n = 43) of all BCBMs and the most frequently detected AAs were in genes involved in the homologous recombination repair pathway (BRCA1/BRCA2/PALB2; 53.6% overall). Biallelic inactivation of BRCA1, BRCA2, or PALB2 was observed in 19.6% of samples, with higher rates in HER2-negative BCBMs (26% in HR-negative /HER2-negative and 21% in HR-positive/HER2-negative). ESCAT I/II PIK3CA/AKT1/PTEN pathway alterations were present in 48.2% of samples and, in particular, in 50% of HR-positive/HER2-negative BCBMs. No ESR1 mutation was detected in HR-positive/HER2-negative BCBMs. The prognostic impact of previously described AAs was evaluated overall and according to breast cancer subtype. Twenty-three BCBMs (41%) were classified as HER2-positive; among these, 3 (13%) presented a hotspot PIK3CA mutation and 7 (30%) presented a PTEN deletion. Among patients with HER2-positive BCBMs, the identification of a hotspot PIK3CA mutation was significantly associated with worse prognosis. CONCLUSIONS: ESCAT I/II actionable genomic alterations are frequent in BCBMs, highlighting the potential for genomically targeted treatments in this setting.

ESCAT↗

PubMed2001

[HBME-1 immunostaining in thyroid pathology].

The aim of this study was to evaluate wether HBME-1 immunohistochemical analysis can reliably differentiate benign thyroid lesions from thyroid carcinomas. Fifty benign and 87 malignant lesions were analyzed. All papillary carcinomas (67/67) were HBME-1 positive, as well as 14 of 20 follicular well-differentiated carcinomas and 13 of 29 atypical follicular adenomas and 4 out of 21 goiters were weakly and focally positive. HBME-1 highlighted micronests of papillary carcinomas. The reactivity of HBME-1 in the tall-cell variant of papillary carcinomas was apical and stronger than in classical papillary carcinomas. Positive HBME-1 immunostaining is in support of the diagnosis of the follicular variant of papillary carcinoma and highlights micropapillary carcinomas. HBME-1 may be of additional value in the diagnosis of thyroid malignancy.

Adenocarcinoma, Follicular↗

PubMed2001

[Cutaneous manifestations of B-CLL masked by florid epithelioid granulomatous response].

We report an unusual case of iterative cutaneous manifestations of B-cell chronic lymphocytic leukaemia, masked by a florid epithelioid granulomatous response. These cutaneous lesions appeared without blood hyperlymphocytosis or lymph node enlargement. The diagnosis of cutaneous tumorous infiltrates was morphologically very difficult and required immunohistochemistry as well as PCR. This observation stresses the diagnostic difficulties encountered in lymphoma, with intense stroma reaction and the need for complementary techniques to reach the right diagnosis and thus deliver appropriate therapy.

Aged↗

PubMed2000

[Diagnostic difficulties of chondrosarcoma of the jaw. Apropos of a case and review of the literature].

Chondrosarcoma is an uncommon malignant mesenchymal tumor characterized by the production of cartilaginous tissue and the absence of production of bone tissue. Maxillary and mandibular localizations are extremely rare and have a poor prognosis. The clinical and radiographic findings are similar to those seen in other tumors of the jaw, often delaying diagnosis and treatment and subsequently jeopardizing prognosis. In the literature, the mean delay from first clinical signs to diagnosis is about 8 months. As in all tumoral diseases, pathology confirms the diagnosis. We report a case of chondrosarcoma of the maxillary bone and review the literature, focusing on the difficulty in establishing the diagnosis, even at the pathology examination. We propose wide surgical excision, which, in agreement with other reports in the literature, is the only therapeutic possibility. We observed no sign of recurrence at 5-year follow-up. Radiotherapy and chemotherapy may be useful in certain cases.

Adult↗