Hamartoma mesenquimal rabdomiomatoso en una ubicación inesperada / Rhabdomyomatous mesenchymal hamartoma developed at an unexpected location

El hamartoma mesenquimal rabdomiomatoso es una lesión cutánea rara descripta por primera vez en 1986 como "hamartoma de músculo estriado". En general, se presenta en la región de la cabeza y el cuello de los recién nacidos. En este artículo, describimos el caso de una niña de 38 días con un apéndice cutáneo congénito en la región perianal. En el examen físico, no se observaron anomalías congénitas ni otras lesiones cutáneas. En el examen histopatológico, se observó un hamartoma con fibras de músculo esquelético desorganizadas. El diagnóstico diferencial incluyó apéndice cutáneo, trago accesorio y fibroma péndulo. El hamartoma mesenquimal rabdomiomatoso se diferencia de las lesiones mencionadas debido al componente de músculo estriado. Dado que no conlleva el riesgo de recurrencia ni de transformación a neoplasia maligna, no es muy relevante diferenciarlo de estas lesiones. Sin embargo, es importante establecer el diagnóstico correcto porque aproximadamente un tercio de los casos se asocian con anomalías congénitas. Asimismo, es necesario un diagnóstico histopatológico en los niños con ubicación perianal debido a las manifestaciones clínicas similares al rabdomiosarcoma.

Rhabdomyomatous mesenchymal hamartoma is a rare dermal lesion which was first described in 1986 as "striated muscle hamartoma". It usually develops in the head and neck region of newborns. We report a 38-day-old girl with a congenital skin tag in the perianal region. Physical examination did not reveal any congenital abnormalities or other dermal lesions. Histopathological examination showed a hamartoma with disorganized skeletal muscle fibers. The differential diagnosis includes skin tag, accessory tragus and soft fibroma. Rhabdomyomatous mesenchymal hamartoma differs from the listed lesions with its striated muscle component. Since it does not carry the risk of recurrence and malignant transformation, it is not very important to distinguish it from these lesions. However, a correct diagnosis is important because approximately one third of the cases are associated with congenital anomalies. Also, histopathological diagnosis should be made in children with perianal localization due to similar clinical manifestation of rhabdomyosarcoma.

Hypoxia-inducible factor 1 alpha expression is an indicator of invasiveness in uterine cervical tumors

Background: Hypoxia is a common feature of cancers. Hypoxia-inducible factor 1A (HIF1A) is a causative agent that changes the transcriptional response of tumors under hypoxia. Some alterations lead to an increase in HIF1A activity and this supports other critical pathways leading to angiogenesis, metabolic adaptation and tumor progression. This retrospective study was designed to evaluate the differences of tissue expressions of HIF1A in a spectrum of cervical neoplasms.Methods: Tissue expression of HIF1A was studied in a total of 107 formalin-fixed, paraffin-embedded uterine cervical tumors specimens and its association with different clinicopathologic parameters was evaluated.Results: In this series, there were 30 low and 29 high grade cervical intraepithelial neoplasms (CINs), 27 squamous cell carcinomas, 15 adenosquamous carcinomas and 6 adenocarcinomas. Strong and diffuse nuclear staining was evaluated as positive HIF1A expression. Positive HIF-1 alpha expression was detected in 7 (25.9%) of squamous cell carcinomas, 1 of adenocarcinomas (16.7%) and only 1 of HGSILs (3.4%). Statistically it was determined that the positivity rate of strong nuclear HIF1A expression was significantly higher in invasive carcinomas when compared with in non-invasive squamous cell carcinomas (p=0.07). Contrary, there was no statistically significant difference according to the subtypes of carcinomas due to scarce number of cases with adenocarcinoma (p=0.188).Conclusions: Our findings were demonstrated to link of nuclear HIF1A expression and the invasive characters of uterine neoplasms. As a result, HIF-1 alpha expression may be important in foreseeing of the invasion and tumor progression.

Prognostic impact of BCL2, BCL6 and MYC status in de novo diffuse large B-cell lymphoma: a regional study of 43 patients

Background: Diffuse large B-cell lymphoma (DLBCL) is an aggressive non-Hodgkin lymphoma with marked biologic heterogeneity. We aimed to evaluate the status of MYC, BCL2, BCL6 in patients with DLBCL.Methods: Herein, we have investigated the prognostic relevance of MYC, BCL2 and BCL6 from 43 de novo DLBCL patients.Results: In this study, protein overexpression of BCL2 and BCL6 was encountered in 46.5% (n=20) and 27.9% (n=12) of the tumors, respectively.  Rearrangements in MYC, BCL6, and BCL2 were detected in 9.3% (n=4), 25.6% (n=11), and 4.7% (n=2) of the cases, respectively. Any statistically significant difference could not be found between Bcl-2, Bcl-6 expression, C-MYC rearrangement and the survival.Conclusions: We concluded that C-MYC and BCL2 may contribute to aggressive transformation, so more mechanism-based therapy should be explored. A larger study is warranted to better understand the immunophenotypic and molecular features of DLBCL and their respective impact on patient survival.

Dermatopatología pediátrica: resena / Pediatric dermatopathology: an overview

La dermatopatología es una subespecialidad de la patología y la dermatología que implica la correlación de los datos clínicos y las observaciones microscópicas de las biopsias cutáneas para obtener información diagnóstica. La dermatología pediátrica es una subespecialidad de la dermatología para la cual es necesario conocer puntos específicos para la evaluación y el tratamiento de los trastornos cutáneos de los niños. Aquí revisamos el enfoque histopatológico y otros factores importantes para los diagnósticos definitivos en dermatopatología pediátrica. Las dermopatías en los niños no constituyen necesariamente versiones más pequenas de las que se presentan en los adultos; incluso algunas podrían estar limitadas el grupo etario pediátrico. Un equipo con experiencia en dermatología y patología incrementa el éxito de las biopsias cutáneas en dermatología pediátrica, además de contar con habilidades técnicas excelentes. Los hallazgos histopatológicos de lesiones cutáneas en niños deben ser evaluados por patólogos pediátricos, quienes tienen un interés específico en la dermatopatología pediátrica, en estrecha colaboración con dermatólogos pediátricos.

Dermatopathology is a subspecialty of pathology and dermatology involving correlation of clinical information with microscopic observations of skin biopsies to provide diagnostic information. Pediatric dermatology is a subspecialty of dermatology for which specific points need to be known for evaluating and managing skin disorders in children. The histopathological approach and other important factors for definitive diagnoses in pediatric dermatopathology are reviewed. Skin diseases in children are not necessarily smaller versions of those that develop in adults and some diaseases may be confined to pediatric age group. An experienced team of dermatology and pathology increases the success of skin biopsies in pediatric dermatology besides the excellent technical skills. The histopathologic findings of skin lesions in children should be evaluated by pediatric pathologists, who have a specific interest for pediatric dermatopathology, in close collaboration with pediatric dermatologists.

Paniculitis epiploica aislada en un niño con dolor abdominal: A propósito de un caso / Isolated omental panniculitis in a child with abdominal pain: Case report

La paniculitis epiploica aislada es una entidad rara, mayormente observada en los adultos. Se presenta con inflamación del tejido adiposo del epiplón. Los síntomas varían entre manifestaciones locales (por ejemplo, dolor a la palpación abdominal o una masa palpable) y sistémicas, que incluyen dolor abdominal, dolor de espalda, fiebre, descenso de peso y trastornos intestinales. Presentamos este caso como una primera acción de sensibilización respecto de un caso de paniculitis epiploica en un niño, afección que debe tenerse en cuenta en el diagnóstico diferencial del íleo a fin de evitar cirugías innecesarias.

Isolated omental panniculitis is a rare entity mostly seen in adults. It presents with the inflammation of the fatty tissue of the omentum. The symptoms may vary from local (e.g. abdominal tenderness or palpable mass) to systemic manifestations including abdominal pain, back pain, fever, weight loss and bowel disturbances. We presented this case as a first awareness of omental panniculitis in a child which must be kept in mind at the differential diagnosis of ileus so that unnecessary surgeries might be avoided.

The evaluation of the caveolin‑1 and AT‑rich interactive domain 1 alpha expressions in uterine smooth muscle tumors.

Objectives: This retrospective study was designed to evaluate the importance of tissue expressions of caveolin‑1 (Cav‑1) and AT‑rich interactive domain 1 alpha (ARID‑1A) which are known as signal regulator and tumor suppressor in differential diagnosis of uterine smooth muscle tumors (SMTs). Materials and Methods: Thirty patients recently diagnosed as uterine SMTs at the Tepecik Training and Research Hospital were identified using pathology databases. Immunohistochemical stains for Cav‑1 and ARID‑1A were performed. Results: In this series, there were 10 leiomyosarcomas (LMSs), 10 uterine smooth muscle tumors of uncertain malignant potentials (STUMPs), and 10 leiomyomas (LMs). Cav‑1 expression located cytoplasmic or perivascular area. Cytoplasmic Cav‑1 expression was determined in 5 LMSs and 2 STUMPs while perivascular Cav‑1 expression was determined in 9 LMSs and 2 STUMPs. Statistically, it was determined that if the tumor becomes malignant and more invasive, it gains the perivascular Cav‑1 expression (P = 0.029). On the other hand, the mean nuclear staining rate for ARID‑1A in LMSs (63 ± 23.4%) was higher than both STUMPs (60 ± 18.5%) and LMs (34.5 ± 16.5%). Statistically, it was determined that the expression of ARID‑1A was significantly downregulated in LMs when compared with STUMPs and LMSs (P = 0.004). Conclusions: Our findings were demonstrated that perivascular Cav‑1 expression was seen to be a marker for malignancy of uterine SMTs. Similarly, we found to link of ARID‑1A expression and the aggressiveness of SMTs. Therefore, it may be suggested that Cav‑1 and ARID‑1A may act as predictive biomarkers in uterine SMTs.

Lupus vulgaris in a pediatric patient: a clinicohistopathological diagnosis

Lupus vulgaris is the most common form of cutaneous tuberculosis which usually occurs in patients previously sensitized to Mycobacterium tuberculosis. We present a case of a 10-year-old boy who was diagnosed as lupus vulgaris clinically and histopathologically. He had well demarcated, irregularly bordered, pink, infiltrated plaques on his left cheek showing apple-jelly appearance on diascopy. The histopathological examination showed tuberculoid granulomas with Langhans type giant cells. The Mantoux reactivity was in normal limits, and no acid-fast bacilli was found in the lesion, either by direct stained smears or by culture. The lesions showed marked improvement on anti-tuberculosis treatment. We want to emphasize that histopathological examination has diagnostic value in lupus vulgaris in correlation with clinical appearance, when direct analysis or culture is negative.