Lymphoplasmacytic lymphoma and marginal zone lymphoma involving bone marrow: A diagnostic dilemma. Useful clinicopathological features to accurate the diagnosis.

Lymphoplasmacytic lymphoma (LPL) and marginal zone lymphoma (MZL) frequently infiltrate the bone marrow with similar histologic and immunohistochemical characteristics posing diagnostic problems. Bone marrow biopsy specimens from 25 LPL and 16 MZL have been studied, correlating with clinical, laboratory parameters and the MYD88_p.L265P mutation. Paratrabecular and interstitial infiltration pattern, serum IgM paraprotein levels, and MYD88_p.L265P mutation were significantly more frequent in LPL. Nodular or intrasinusoidal pattern with lymphocytosis and splenomegaly were associated with MZL diagnosis. Different clinical and histological parameters should be collected when LPL or MZL is suspected in bone marrow biopsy specimens.

[Amyloid goitre, a benign entity with fast growth]. / Bocio amiloide, una entidad benigna de rápido crecimiento.

Amyloid goitre is an infrequent benign entity characterized by a rapid increase in the size of the thyroid gland due to amyloid deposit in the parenchyma. Such an increase in size, which takes place over only a few months, can cause symptoms such as dyspnea, dysphagia and dysphonia. We present three cases diagnosed in the same centre and estimated its incidence. All cases showed similar morphology, with varying proportions of thyroid follicles, mature adipose tissue and amyloid. AA Amyloid accumulation was verified and associated to previous pathologies (Crohn's disease, juvenile rheumatoid arthritis and chronic renal disease). One case showed a papillary microcarcinoma. Amyloid goitre is an infrequent entity which should be considered in the differential diagnosis of all patients with goitre, especially those with chronic underlying diseases.

Cytological and molecular characterization of secretory breast carcinoma.

Secretory breast carcinoma is a rare neoplasm, histologically well-characterized, and secondary to ETV6-NTRK3 gene fusion, whose cytological features are scarcely described in the literature. We report the case of a woman with a history of secretory breast carcinoma 8 years before, who presented a periareolar nodule. A recurrence was diagnosed by fine-needle aspiration based on the cytomorphological features and pan-TRK immunocytochemistry on the cell block, and the patient underwent a mastectomy. The histology and molecular studies performed on the surgical specimen (immunohistochemistry, FISH and NGS) confirmed the diagnosis. Cytological smears showed abundant epithelial cellularity, in groups and single cells. These cells showed moderate atypia, with abundant cytoplasm. We observed intracytoplasmic inclusions and extracellular metachromatic globules. Immunocytochemical and immunohistochemical studies showed a triple negative breast tumour. NTRK overexpression was demonstrated with immunocytochemistry against pan-TRK on the cell block, as well as with immunohistochemistry in the surgical specimen. NTRK3 rearrangement was proved by FISH. In the primary tumour and in the recurrence, we demonstrated ETV6-NTRK3 fusion by NGS. After conducting a literature review, we have found 26 articles describing the cytological features of secretory breast carcinoma in 33 patients. The smears were described as groups of epithelial cells with vacuolated cytoplasm, single signet ring cells and a globular extracellular secretion. In only two cases molecular confirmation of the diagnosis with ETV6-NTRK3 fusion was proven, although not in the cytological specimen, but in the subsequent biopsy. The distinct cytological features of secretory breast carcinoma can help in its diagnosis, thus guiding the molecular studies. This is the first reported case that proves TRK overexpression, as a fusion surrogate, in the cytological sample.

Osteomalacia oncogénica secundaria a tumor mesenquimal fosfatúrico del pie / Oncogenic osteomalacia secondary to phosphaturic mesenchymal tumour of the foot

RESUMEN La osteomalacia oncogénica es un síndrome metabólico paraneoplásico caracterizado por hipofosfatemia debida a la pérdida renal de fosfato, con nivel bajo de vitamina D. Este trastorno está asociado con la liberación de factores fosfatúricos por células tumorales, especialmente el factor de crecimiento fibrolástico 23 (FGF23). Las neoplasias relacionadas con la osteomalacia oncogénica suelen ser tumores pequeños de linaje mesenquimatoso y pueden ser difíciles de localizar en algunos casos debido a su tamaño y ubicación poco accesible al examen físico. Presentamos a un paciente que desarrolló fracturas vertebrales y de cadera debido a osteomalacia oncogénica asociada con un tumor mesenquimatoso fosfatúrico del tejido graso profundo de la planta del pie, que finalmente se diagnosticó después de 3 años del inicio de los síntomas, cuando el tumor pudo ser localizado por el rastreo gammagráfico óseo con pentatreótido marcado con indio-111 y por las imágenes de resonancia magnética nuclear.

ABSTRACT Oncogenic osteomalacia is a paraneoplastic metabolic syndrome characterised by a low phosphates in the blood due to renal phosphate losses with inadequately normal or low vitamin D levels. This disorder is associated with the release of tumour cell-secreted phosphaturic factor, most notably fibroblast growth factor 23 (FGF-23). The neoplasms related to oncogenic osteomalacia are usually small tumours of mesenchymal lineage, and they may be difficult to locate in the physical examination in some cases, due to their size and inaccessible location. The case is presented of a patient who developed vertebral and hip fractures due to oncogenic osteomalacia associated with a phosphaturic mesenchymal tumour of the deep fat tissue in the sole of the foot. This was finally diagnosed after 3 years of the onset of symptoms after being located by bone scintigraphy with Indium-111 labelled pentetreotide and magnetic resonance imaging.

Pleomorphic lobular carcinoma of the breast with osteoclast-like giant cells: a case report and review of the literature.

BACKGROUND: Breast carcinoma with osteoclast-like giant cells (OGCs) is infrequent, being most reported cased described as ductal invasive carcinomas. Invasive pleomorphic lobular carcinoma (PLC) is a distinct morphological variant of invasive lobular carcinoma characterized by higher nuclear atypia and pleomorphism than the classical type. In the best of our knowledge, a PLC with OGCs has not been previously reported. CASE PRESENTATION: We report the case of a 72-year-old woman presenting with a pleomorphic tumor of the left breast with a dense infiltration by OGCs and T lymphocytes with a 10:1 predominance of CD8+ over CD4+ cells. The diagnosis of a lymphoid or mesenchymal neoplasia was excluded after demonstrating keratin expression by the neoplastic cells. The absence of E-cadherin expression and the morphological features were consistent with the diagnosis PLC with OGCs. In addition, we demonstrated the deleterious mutation C.del866C in CDH1gene, but no mutations in any of the other 33 genes analyzed by next generation sequencing. CONCLUSIONS: Breast carcinoma with stromal osteoclast-like giant cells is a very rare tumor, for that reason, the use of the cytologic features and growth patterns in combination with immunohistochemically studies is mandatory for a correct diagnosis of lobular carcinoma. In addition, further studies are necessary to clarify the influence of OGCs in the prognosis of these patients.

Identification of prognostic factors in pancreatic cancer.

BACKGROUND: Surgical resection is the only potentially curative treatment for pancreatic cancer, but it is associated with high complication rates. Outcome is poor, even in those resected cases. Identification of prognostic factors preoperatively may help to improve treatment of these patients, based on the expected response. METHODS: A retrospective study of clinical variables of 59 patients with histological diagnosis of pancreatic carcinoma at University Hospitals Ramon y Cajal and La Princesa (Madrid, Spain) between 1999 and 2003 was performed. RESULTS: We analyzed 59 patients (32 males and 27 females) with a mean age of 63.76 years. All patients were operated on, performing palliative surgery in 32% and tumor resection in 68%, including pancreaticoduodenectomy in 51% and distal pancreatectomy in 17%. Median overall survival was 14 months (range: 1-110 months). We observed that the presence of abdominal pain (p = 0.042) and back pain (p = 0.004) at diagnosis, palpation of abdominal mass at physical examination (p = 0.012), preoperative levels of hemoglobin <12 g/dl (p = 0.0006) and serum albumin <2.8 g/dl (p = 0.021), perineural infiltration (p = 0.025), lymph node affection (p = 0.004), stages II, III, and IV (p = 0.001), and presence of residual tumor (R+) (p = 0.008) are all associated with poor survival. CONCLUSIONS: Abdominal and back pain, palpation of abdominal mass at physical examination, preoperative levels of hemoglobin <12 g/dl and serum albumin <2.8 g/dl, perineural infiltration, lymph node affection, stages II, III, and IV, and the presence of residual tumor are associated with poor outcome.

Dermatofibrosarcoma protuberans: review of 20-years experience.

INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue neoplasm with low-intermediate grade of malignancy. It is a locally aggressive tumour with a high recurrence rate. Surgical excision with adequate margins is the main treatment. MATERIALS AND METHODS: We describe the clinicopathological features of 21 cases of DFSP. The mean size of the lesions was 5.6 cm, mostly located in trunk. 61.9% of the cases underwent surgical excision without previous biopsy. 52.4% of the patients presented positive margins, that required surgical extension. RESULTS: The recurrence rate was 28.6% (6 cases), five of them local recurrences treated with new surgical excision with wide margins. Median period free of illness was 32.5 months. Medium follow-up period was 33.25 months. CONCLUSIONS: DFSP has a locally high recurrence rate, that has been associated to inadequate surgical margins. The histological knowledge preoperatively would permit surgical excision with adequate margins, and probably this could reduce the recurrence rate. Radiotherapy could avoid the surgical extension of margins in these cases with positive ones. Chemotherapy could be indicated in metastasic cases. Most recurrences appear in the first 3 years, but it is important a long-term follow-up of these patients.

Dermatofibrosarcoma protuberans: review of 20-years experience

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Introduction. Dermatofibrosarcoma protuberans(DFSP) is an uncommon soft tissue neoplasm withlow-intermediate grade of malignancy. It is a locallyaggressive tumour with a high recurrence rate. Surgicalexcision with adequate margins is the maintreatment.Materials and methods. We describe the clinicopathologicalfeatures of 21 cases of DFSP. Themean size of the lesions was 5.6 cm, mostly locatedin trunk. 61.9% of the cases underwent sugical excisionwithout previous biopsy. 52.4% of the patientspresented positive margins, that required surgicalextension.Results. The recurrence rate was 28.6% (6 cases),five of them local recurrences treated with new surgicalexcision with wide margins. Median periodfree of illness was 32.5 months. Medium follow-upperiod was 33.25 months.Conclusions. DFSP has a locally high recurrencerate, that has been associated to inadequate surgicalmargins. The histological knowledge preoperativelywould permit surgical excision with adequatemargins, and probably this could reduce the recurrencerate. Radiotherapy could avoid the surgicalextension of margins in these cases with positiveones. Chemotherapy could be indicated in metastasiccases. Most recurrences appear in the first 3years, but it is important a long-term follow-up ofthese patients

Infiltrating ductal carcinoma and ductal carcinoma in situ associated with mammary hamartoma.

Mammary hamartoma is a rare nonmalignant lesion. Only 11 cases of carcinoma associated with hamartoma have been previously described in the literature. We describe a case of infiltrating ductal carcinoma (IDC) and ductal carcinoma in situ (DCIS) associated with hamartoma in a 35-year-old woman. Mammography showed the features of a typical hamartoma with suspicious microcalcifications arising in it. The patient underwent a radical modified mastectomy. It is likely that hamartoma is a coincidental finding. The identification of suspicious microcalcifications in a typical mammographic image of a hamartoma should prompt continued examination to exclude an underlying tumor.

[Mammary hamartoma]. / Hamartoma mamario.

For many years, mammary hamartoma was considered to be an under-diagnosed disease. However, with the increasing use of diagnostic procedures in breast tumors (mammography, ultrasound, fine needle aspiration cytology and core needle biopsy), diagnosis of this entity has increased. Mammary hamartomas normally manifest as painless, mobile, palpable lumps without adherence to skin or muscle. Mammography shows well-circumscribed tumors, separated from adjacent normal breast tissue. Macroscopically they are well-defined tumors, consisting of benign mammary glandular tissue, fibrous stroma and fat in variable proportions, sometimes with a pseudoencapulation. Because of the lack of cytological and architectural specificity of hamartomas, correlation between clinical manifestations, imaging techniques and histology is essential. This report describes a case of an 11-cm mammary hamartoma in a 46-year-old woman.

Hamartoma mamario / Mammary hamartoma

El hamartoma mamario se ha considerado durante mucho tiempo como una enfermedad infradiagnosticada, pero con el aumento progresivo en la utilización de procedimientos diagnósticos en las tumoraciones mamarias (mamografía, ecografía, punción aspiración con aguja fina y biopsia con aguja gruesa) el número de casos diagnosticados ha aumentado. Los hamartomas mamarios suelen manifestarse como masas indoloras, móviles y no adheridas a piel ni a músculo. En la mamografía se suelen observar tumoraciones bien delimitadas, separadas del tejido mamario normal. Macroscópicamente son tumores bien definidos, compuestos de tejido glandular mamario de características benignas, estroma fibrosa y tejido graso en cantidades variables, en ocasiones seudoencapsulados. La correlación de las manifestaciones clínicas y las pruebas de imagen con la histología es completamente necesaria, debido a la falta de especificidad citológica y arquitectural de los hamartomas. Este artículo describe un caso de hamartoma mamario de 11 cm de diámetro en una mujer de 46 años de edad (AU)

For many years, mammary hamartoma was considered to be an under-diagnosed disease. However, with the increasing use of diagnostic procedures in breast tumors (mammography, ultrasound, fine needle aspiration cytology and core needle biopsy), diagnosis of this entity has increased. Mammary hamartomas normally manifest as painless, mobile, palpable lumps without adherence to skin or muscle. Mammography shows well-circumscribed tumors, separated from adjacent normal breast tissue. Macroscopically they are well-defined tumors, consisting of benign mammary glandular tissue, fibrous stroma and fat in variable proportions, sometimes with a pseudoencapulation. Because of the lack of cytological and architectural specificity of hamartomas, correlation between clinical manifestations, imaging techniques and histology is essential. This report describes a case of an 11-cm mammary hamartoma in a 46-year-old woman (AU)