[Fat-forming solitary fibrous tumor with NAB2/ STAT6 gene fusion. Case report of genial location and literature review]. / Tumor fibroso solitario variedad lipomatosa con fusión génica NAB2/STAT6. Estudio de un caso de localización geniana y revisión de la literatura.

The lipomatous variety solitary fibrous tumor is a soft tissue neoplasm composed of mature adipose tissue and hemangiopericytoma areas. A 53-year-old man consulted for facial asymmetry and maxillofacial magnetic resonance imaging showed a cystic lesion, 3 x 2 cm in size, in front of the anterior wall of the maxillary sinus. Histologically, there were dense spindle cells expressing CD34, CD99, Bcl-2, and STAT6, myxoid zones, hemangiopericytomatous blood vessels, and S100 positive adipocytes. NAB2/STAT6 gene fusion was revealed by RT-PCR. The main differential diagnosis was raised with the spindle cell lipoma and malignant variant of the lipomatous solitary fibrous tumor. STAT6 overexpression and NAB2/STAT6 gene fusion are specific for lipomatous solitary fibrous tumor and the presence of lipoblasts and atypical lipomatous tumor areas suggests malignancy. These tumors located in the head and neck region have a benign biological behavior.

Tumor fibroso solitario variedad lipomatosa con fusión génica NAB2/STAT6. Estudio de un caso de localización geniana y revisión de la literatura / Fat-forming solitary fibrous tumor with NAB2/ STAT6 gene fusion. Case report of genial location and literature review

El tumor fibroso solitario variedad lipomatosa es una neoplasia de partes blandas compuesta por tejido adiposo maduro y áreas de hemangiopericitoma. Un varón de 53 años se presentó clínicamente con asimetría facial. La resonancia magnética maxilofacial demostró una lesión quística, de 3 x 2 cm, por delante de la pared anterior del seno maxilar. Histológicamente, había áreas fusocelulares densas que expresaban CD34, CD99, Bcl-2 y STAT6, zonas mixoides, vasos sanguíneos hemangiopericitomatosos y adipocitos S100 positivos. La fusión génica NAB2/STAT6 fue revelada mediante RT-PCR. El principal diagnóstico diferencial se planteó con el lipoma de células fusiformes y la variante maligna del tumor fibroso solitario lipomatoso. La sobreexpresión de STAT6 y la fusión génica NAB2-STAT6 son específicas del tumor fibroso solitario lipomatoso y la presencia de lipoblastos y áreas de tumor lipomatoso atípico sugiere malignidad. Estos tumores en cabeza y cuello tienen un comportamiento biológico benigno.(AU)

The lipomatous variety solitary fibrous tumor is a soft tissue neoplasm composed of mature adipose tissue and hemangiopericytoma areas. A 53-year-old man consulted for facial asymmetry and maxillofacial magnetic resonance imaging showed a cystic lesion, 3 x 2 cm in size, in front of the anterior wall of the maxillary sinus. Histologically, there were dense spindle cells expressing CD34, CD99, Bcl-2, and STAT6, myxoid zones, hemangiopericytomatous blood vessels, and S100 positive adipocytes. NAB2/STAT6 gene fusion was revealed by RT-PCR. The main differential diagnosis was raised with the spindle cell lipoma and malignant variant of the lipomatous solitary fibrous tumor. STAT6 overexpression and NAB2/STAT6 gene fusion are specific for lipomatous solitary fibrous tumor and the presence of lipoblasts and atypical lipomatous tumor areas suggests malignancy. These tumors located in the head and neck region have a benign biological behavior.(AU)

MicroRNAs expression associated with aggressive clinicopathological features and poor prognosis in primary cutaneous melanomas.

Several studies have focused on identifying microRNAs involved in the pathogenesis of melanoma. However, its association with clinicopathological features has been scarcely addressed. The aim of this study is to identify microRNAs expression profiles related to aggressive clinicopathological and molecular features, and to analyze the association with melanoma survival. A retrospective and observational study was performed in a series of 179 formalin-fixed paraffin embedded primary cutaneous melanomas. First, a screening analysis on a discovery set (n = 22) using miRNA gene chip array (Affymetrix, Santa Clara, California, USA) was performed. Differentially expressed microRNAs were detected employing the software Partek Genomic Suite. Validation of four microRNAs was subsequently performed in the entire series (n = 179) by quantitative real time PCR (qRT-PCR). MicroRNAs expression screening analysis identified 101 microRNAs differentially expressed according to Breslow thickness (≤1 mm vs. >1 mm), 79 according to the presence or absence of ulceration, 78 according to mitosis/mm2 (<1 mitosis vs. ≥1 mitosis) and 97 according to the TERT promoter status (wt vs. mutated). Six microRNAs (miR-138-5p, miR-130b-3p, miR-30b-5p, miR-34a-5p, miR-500a-5p, miR-339-5p) were selected for being validated by qRT-PCR in the discovery set (n = 22). Of those, miR-138-5p, miR-130b-3p, miR-30b-5p, miR-34a-5p were selected for further analysis in the entire series (n = 179). Overexpression of miR-138-5p and miR-130b-3p was significantly associated with greater Breslow thickness, ulceration, and mitosis. TERT mutated melanomas overexpressed miR-138-5p. Kaplan-Meier survival analysis showed poorer survival in melanomas with miR-130b-3p overexpression. Our findings provide support for the existence of a microRNA expression profile in melanomas with aggressive clinicopathological features and poor prognosis.

Balanitis Xerotica Obliterans Associated With Differentiated Penile Intraepithelial Neoplasia and "Bramble-Bush" Elastic Fibers Accumulation: A Finding Not Specific for Penicillamine Intake.

We describe the association of balanitis xerotica obliterans and differentiated penile intraepithelial neoplasia (PeIN) with dermal elastosis and "bramble-bush" elastic fibers in a diabetic patient with no history of penicillamine intake. An 84-year-old man presented with urethral obstruction syndrome that required postectomy, meatotomy, and foreskin excision. Histopathological examination revealed changes of lichen sclerosus and differentiated PeIN. Orcein staining showed striking dermal elastosis and transepidermal elimination of elastic fibers. At higher magnification, multiple serrations and buds arising from the borders of the elastic fibers were observed giving the so-called bramble-bush appearance. Balanitis xerotica obliterans is considered a premalignant disease, and 14% of patients have evidence of PeIN. The differentiated subtype can be difficult to diagnose because of the minimal basal cell atypia, so a striking dermal elastosis, which may even occur before the neoplasm becomes invasive, may facilitate its diagnosis. The term "acquired perforating dermatosis" seems appropriate to describe those cases of perforating elastosis that occurs in adults with systemic diseases. The bramble-bush appearance of elastic fibers is not specific for penicillamine-induced elastopathy, and it may occur in other diseases, such as diabetes mellitus. This peculiar morphology of elastic fibers may be related to the enzymatic imbalance between matrix metalloproteinases and lysyl oxidase, an enzyme required for the cross-linking of elastic fibers.

Orbital soft tissue composite lymphoma presenting as recurrence of a nodal lymphoma with mantle and follicular cell components: a case report, literature review and guideline for the treatment of patients / Linfoma compuesto de tejidos blandos orbitario presentándose como recurrencia de un linfoma ganglionar con componentes del manto y folicular: descripción de un caso, revisión de la literatura y guía para el tratamiento de los pacientes

Composite lymphoma with mantle and follicular cell components is a challenging diagnosis. Flow cytometry, immunohistochemistry and molecular genetics are required to distinguish the two components, as often the more aggressive one is predominant and masks the other. A 58-year-old man with history of nodal composite lymphoma presented with right exophthalmos and diplopia. A head CT scan showed an orbital tumor. A biopsy of the tumor revealed a mantle cell lymphoma predominating over a follicular lymphoma. Immunoglobulin heavy chain and light chain rearrangements analysis by PCR proved that both components of the orbital tumor were recurrences of the same nodal composite lymphoma diagnosed two years earlier. The nodal lymphoma was composed of a follicular lymphoma and an in situ mantle cell neoplasia. Consensus view is that dominant lymphoma should be treated when needed but taking into account if the mantle cell lymphoma is an in situ neoplasia and if it expresses CD5 and SOX11

El diagnóstico de linfoma compuesto con componentes del manto y folicular es desafiante y requiere de técnicas como citometría de flujo, inmunohistoquímica y genética molecular, porque a menudo el componente linfoide más agresivo predomina sobre el otro, enmascarándolo. Un varón de 58 años con historia de linfoma compuesto ganglionar presentó exoftalmos derecho y diplopia. La TAC de cabeza mostró un tumor orbitario. Una biopsia del tumor reveló un linfoma del manto predominando sobre un linfoma folicular. El reordenamiento genético mediante PCR de la cadena pesada y cadenas ligeras de inmunoglobulina demostró que ambos componentes del tumor orbitario eran recurrentes del mismo linfoma compuesto ganglionar diagnosticado 2 años antes. El linfoma ganglionar estaba compuesto por linfoma folicular y neoplasia del manto in situ. El consenso es que el linfoma dominante debe ser tratado cuando sea necesario considerando si el linfoma del manto es in situ y si expresa CD5 y SOX11

Orbital soft tissue composite lymphoma presenting as recurrence of a nodal lymphoma with mantle and follicular cell components: A case report, literature review and guideline for the treatment of patients.

Composite lymphoma with mantle and follicular cell components is a challenging diagnosis. Flow cytometry, immunohistochemistry and molecular genetics are required to distinguish the two components, as often the more aggressive one is predominant and masks the other. A 58-year-old man with history of nodal composite lymphoma presented with right exophthalmos and diplopia. A head CT scan showed an orbital tumor. A biopsy of the tumor revealed a mantle cell lymphoma predominating over a follicular lymphoma. Immunoglobulin heavy chain and light chain rearrangements analysis by PCR proved that both components of the orbital tumor were recurrences of the same nodal composite lymphoma diagnosed two years earlier. The nodal lymphoma was composed of a follicular lymphoma and an in situ mantle cell neoplasia. Consensus view is that dominant lymphoma should be treated when needed but taking into account if the mantle cell lymphoma is an in situ neoplasia and if it expresses CD5 and SOX11.

Iodine-125 seeds in prostatic transurethral resection: Differential diagnosis with schistosome eggs / Presencia de I-125 semillas en material de resección transuretral. Diagnóstico diferencial con huevos de esquistosoma

The presence of foreign bodies in a prostate transurethral resection may pose a histopathological challenge. A 65-year-old white man with urinary obstructive symptoms was subjected to a transurethral resection. Histopathology showed a squamous cell carcinoma affecting prostatic ducts and multiple foreign bodies; their differential diagnosis was between iodine-125 seeds and Schistosoma sp. eggs, as both can show oval morphology and terminal spines. The seeds are irregular, homogeneous and solid, unlike Schistosoma eggs that are heterogeneous, with a lytic appearance and some embryonated or calcified. The seeds are located in prostatic ducts inducing periductal fibrosis whereas the Schistosoma sp. eggs are found in the stroma inducing desmoplasia and granulomas. The seeds are associated with a lymphoplasmacytic infiltrate while the eggs are surrounded by eosinophils

La presencia de cuerpos extraños en una resección transuretral de próstata puede suponer un desafío histopatológico. Un varón de 65 años con síntomas de obstrucción urinaria fue sometido a una resección transuretral. El estudio histopatológico demostró un carcinoma de células escamosas de conductos prostáticos y múltiples cuerpos extraños planteando el diagnóstico diferencial entre semillas de iodo-125 y huevos de esquistosoma. Ambos pueden tener morfología oval y espinas terminales. Las semillas son irregulares, homogéneas y sólidas, a diferencia de los huevos de esquistosoma que son heterogéneos, de apariencia lítica, y otros embrionados o calcificados. Las semillas se localizan en los ductos prostáticos induciendo fibrosis periductal mientras que los huevos están en el estroma induciendo desmoplasia y granulomas. Las semillas se asocian a infiltrado linfoplasmocítico mientras que los huevos están rodeados por eosinófilos

Iodine-125 seeds in prostatic transurethral resection: Differential diagnosis with schistosome eggs.

The presence of foreign bodies in a prostate transurethral resection may pose a histopathological challenge. A 65-year-old white man with urinary obstructive symptoms was subjected to a transurethral resection. Histopathology showed a squamous cell carcinoma affecting prostatic ducts and multiple foreign bodies; their differential diagnosis was between iodine-125 seeds and Schistosoma sp. eggs, as both can show oval morphology and terminal spines. The seeds are irregular, homogeneous and solid, unlike Schistosoma eggs that are heterogeneous, with a lytic appearance and some embryonated or calcified. The seeds are located in prostatic ducts inducing periductal fibrosis whereas the Schistosoma sp. eggs are found in the stroma inducing desmoplasia and granulomas. The seeds are associated with a lymphoplasmacytic infiltrate while the eggs are surrounded by eosinophils.

Pulmonary cysts in smoking-related interstitial fibrosis: a form of pseudocyst secondary to pulmonary interstitial emphysema / Quistes pulmonares en el contexto de la fibrosis intersticial pulmonar relacionada con el tabaco: una forma de seudoquiste secundario a enfisema intersticial pulmonar

Smoking-related interstitial fibrosis is a distinct form of fibrosis, found in smokers, which has striking histopathological features. We present a case of pulmonary interstitial fibrosis with cysts in a 58-year-old woman who was a significant active smoker, presenting with a 7 month history of progressive dyspnea. TAC revealed thin-walled pulmonary cysts. An open lung biopsy was performed and the histopathological study showed hyaline fibrous thickening of the alveolar septa, respiratory bronchiolitis and cysts in the thickness of the interlobar septa. Immunohistochemically, the absence of an epithelial, vascular or lymphatic endothelial lining of the cysts would suggest that the cysts had been caused by pulmonary interstitial emphysema. Immunohistochemistry is essential in the differential diagnosis that includes, in this case, true cysts, pseudocysts and pulmonary lymphangiectasia

La fibrosis intersticial relacionada con el tabaco es una forma especial de fibrosis con histología característica que ocurre en fumadores. Presentamos un caso de fibrosis intersticial pulmonar con quistes en una mujer de 58 años con historia de tabaquismo importante, que refería disnea progresiva en los últimos 7 meses. La TAC reveló quistes pulmonares de paredes delgadas. Se realizó una biopsia pulmonar abierta y el estudio histopatológico mostró engrosamiento fibroso hialino de los septos alveolares, bronquiolitis respiratoria y quistes en el espesor de los septos interlobares. Inmunohistoquímicamente, la ausencia de revestimiento epitelial, endotelial vascular y linfático de los quistes, apoya que estos son causados por enfisema intersticial pulmonar. La inmunohistoquímica es esencial en el diagnóstico diferencial que incluye en este caso, quistes verdaderos, seudoquistes y linfangiectasia pulmonar