RESUMO
Dermatofibroma (DF) is a benign tumor that forms pedunculated lesions ranging in size from a few millimeters to 2 cm, usually affecting the extremities and trunks of young adults. Histopathologically, DF is characterized by the storiform proliferation of monomorphic fibroblast-like spindle cells. In addition to neoplastic cells, secondary elements such as foamy histiocytes, Touton-type giant cells, lymphoplasmacytes, and epidermal hyperplasia are characteristic histological features. Several histological variants, including atypical, cellular, aneurysmal, and lipidized variants, have been reported; cases with variant histologies are sometimes misdiagnosed as sarcomas. We present a case of metastasizing aneurysmal DF that was initially diagnosed as an angiosarcoma on biopsy. A 26-year-old woman was referred to our hospital with a gradually enlarging subcutaneous mass in her lower left leg. Positron emission tomography-computed tomography revealed high fluorodeoxyglucose uptake not only in the tumor but also in the left inguinal region. On biopsy, ERG and CD31-positive atypical spindle cells proliferated in slit-like spaces with extravasation, leading to the diagnosis of angiosarcoma. Histology of the wide-resection specimen was consistent with DF, and lymph node metastasis was also observed. Nanopore DNA sequencing detected CD63::PRKCD fusion and copy number gain, although CD63 was not included in the target region of adaptive sampling. This report highlights the importance of recognizing the unusual clinical, radiological, and pathological features of DF to avoid misdiagnosis, and the potential diagnostic utility of nanopore sequencer.
Assuntos
Hemangiossarcoma , Histiocitoma Fibroso Benigno , Sequenciamento por Nanoporos , Proteínas de Fusão Oncogênica , Adulto , Feminino , Humanos , Hemangiossarcoma/genética , Hemangiossarcoma/diagnóstico , Hemangiossarcoma/patologia , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Sequenciamento por Nanoporos/métodos , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Tetraspanina 30/genética , Tetraspanina 30/metabolismoRESUMO
Cutaneous fibrous histiocytoma (FH) is considered a benign dermal tumor. The cellular variant is rare and poorly documented. Besides presenting a high risk of local recurrence, it has a low but serious metastatic potential. We present a case of metastatic cellular FH and also review the literature on this tumor, given its unusual metastatic development. A 47-year-old male patient presented with a lesion in the anterior surface of the right thigh, which has been present since adolescence but had grown during last year. Anatomopathological evaluation revealed a cellular FH, and the lesion was completely removed. Six months later, tumor recurrence with multiple compartment muscle involvement and pulmonary metastasis were detected. Both lesions were completely resected and after 3 years of follow-up, the patient is asymptomatic and free of the disease. We conclude that FH should be carefully sampled to detect variants with high local recurrence rates or with some metastatic risk such as the cellular one. We recommend wide surgical resection and a close follow-up including chest x-rays or thorax computed tomography (CT) in all cellular FH cases with local recurrence.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Pulmonares , Neoplasias Cutâneas , Masculino , Adolescente , Humanos , Pessoa de Meia-Idade , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/patologia , Neoplasias Pulmonares/secundárioRESUMO
BACKGROUND: Diffractive microscopy creates contrast within samples that are otherwise uniform under bright light. This technique can highlight subtle differences in refractive indices within birefringent samples containing varying amounts of mature collagen. Dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) possess differences in their mature collagen content and, therefore, may be distinguishable using diffractive microscopy. METHODS: Two hundred forty-two DF and 85 DFSP hematoxylin-eosin (H&E)-stained specimens were analyzed using diffractive microscopy. Data regarding the distribution pattern and strength of refractility was recorded. RESULTS: DFSP was more frequently found to be focally, weakly, or non-refractile (82.9%; n = 68) under diffractive microscopy, while DF more often showed diffusely bright refractility (52.9%; n = 128). DFSP samples with diffuse refractility in portions of the lesion (17.1%; n = 14) also exhibited a unique checkerboard pattern distinct from that which was seen in DF samples. CONCLUSIONS: The absence of diffuse refractility was more closely associated with DFSP, as was the presence of a unique checkerboard diffraction pattern. Despite high sensitivity (Sn = 82.9%), absent refractility was not a specific test (Sp = 52.9%), with 47.1% (n = 114) of DF samples sharing this feature. The distinction between DF and DFSP is often diagnosed using H&E alone. In difficult cases, examination of collagen under diffractive microscopy may be useful in distinguishing DFSP from DF and provide an alternative cost-effective tool to immunohistochemical staining.
Assuntos
Dermatofibrossarcoma , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Microscopia , Diagnóstico Diferencial , Colágeno , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
ABSTRACT: A collision tumor is an infrequent phenomenon characterized by the presence of 2 histologically distinct tumor types (either benign or malignant) occurring within the same specific anatomical site. We describe a rare case of co-occurrence of basal cell carcinoma and atypical fibroxanthoma presenting as a single lesion on the scalp in a 76-year-old man. The lesion was clinically suspicious for basal cell carcinoma and biopsied. Histologic examination showed 2 distinct tumors, one with basaloid cells and the other one with pleomorphic spindle cells colliding and growing together. Immunohistochemical stains were crucial in establishing the diagnosis. This presentation is exceedingly rare and requires additional evaluation for diagnosis.
Assuntos
Carcinoma Basocelular , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/diagnóstico , Carcinoma Basocelular/patologia , Diagnóstico Diferencial , Couro Cabeludo/patologiaRESUMO
Pediatric dermatofibromas are considered rare in young children and have not been well characterized, often misdiagnosed clinically. We performed a retrospective case series of children younger than 18 years with histopathologically diagnosed dermatofibromas at our institutions and evaluated age at onset and diagnosis, sex, lesion location, and size, associated symptoms, change over time, and pre-biopsy diagnosis. Overall, dermatofibromas were most common on the back and chest (20/53; 38%), followed by the legs (15/53; 28%) and arms (12/53; 23%) with the most common pre-biopsy diagnosis of "cyst" (23/53; 43%), followed by dermatofibroma (16/53; 30%), and pilomatricoma (12/53; 23%). Our study reinforces previous findings of truncal predominance of pediatric dermatofibromas, different from adults.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Estudos Retrospectivos , Feminino , Masculino , Criança , Neoplasias Cutâneas/patologia , Histiocitoma Fibroso Benigno/patologia , Pré-Escolar , Adolescente , Lactente , Tronco/patologiaRESUMO
Benign fibrous histiocytoma (BFH) within the intracerebral region is remarkably rare. Our report details 2 cases of unusual BFH instances that exhibit no adhesion to the dura mater or cerebral falx, accompanied by a comprehensive literature review. While magnetic resonance imaging demonstrates specific characteristics for BFH, it does not readily differentiate BFH from more common brain neoplasms like gliomas and metastatic tumors. The definitive diagnosis of BFH depends primarily on histopathological and immunohistochemical examinations. Total surgical resection is considered an efficacious therapeutic approach, emphasizing the necessity for prolonged postoperative surveillance to detect any potential tumor recurrence or metastasis.
Assuntos
Neoplasias Encefálicas , Histiocitoma Fibroso Benigno , Imageamento por Ressonância Magnética , Humanos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgiaRESUMO
Non-neural granular cell tumor (NNGCT) is a rare tumor with uncertain lineage. It presents as an asymptomatic polypoid or plaque-like lesion, especially on trunk. Because the granular cells are usually strongly reactive with S-100 stain, conventional granular cell tumors (GCTs) are regarded as those of neural or Schwann cell origin. Unlike GCTs, NNGCT is not reactive for S-100 protein and is thought to derive elsewhere, presumably from mesenchymal stem cells. A 20-year-old woman presented with a solitary, dermatofibroma-like, brownish nodule on her right arm. The lesion developed 3 months before presentation without subjective symptoms. Histopathologic examination revealed a grenz zone overlying a poorly circumscribed tumor extending through the reticular dermis. The tumor cells were large and polygonal, and they had numerous eosinophilic small granules in the cytoplasm. Immunohistochemical stains were positive for CD68, vimentin, factor XIIIa, CD10, and cyclin D1. Stains for S-100 protein, neuron-specific enolase, and CD34 were negative. Based on these findings, the lesion was diagnosed as dermal NNGCT.
Assuntos
Tumor de Células Granulares , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Feminino , Humanos , Adulto Jovem , Adulto , Tumor de Células Granulares/patologia , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/patologia , Proteínas S100 , Antígenos CD34RESUMO
Angiomatoid fibrous histiocytoma (AFH) is a soft tissue neoplasm of intermediate biological potential. Typically a slow-growing tumor, it can recur locally. Rarely, it manifests as a soft tissue sarcoma capable of metastasis. When metastases are nonamenable to local therapy, it is believed uniformly fatal. We present 3 patients with metastatic AFH who demonstrated a sustained response to chemotherapy; including one who achieved complete remission with cryoablation. These cases reinforce the potential value of chemotherapy in some patients with unresectable metastatic AFH and provide the first case in the literature of cryoablation in AFH.
Assuntos
Histiocitoma Fibroso Benigno , Histiocitoma Fibroso Maligno , Neoplasias de Tecidos Moles , Humanos , Neoplasias de Tecidos Moles/patologia , Histiocitoma Fibroso Maligno/patologia , Histiocitoma Fibroso Maligno/cirurgia , Indução de RemissãoRESUMO
OBJECTIVE: The purpose of this study was to evaluate the CT and MRI findings, clinicopathologic features, and differential diagnosis of Sclerosing angiomatoid nodular transformation (SANT). METHODS AND MATERIALS: Seven men and seven women with pathological diagnoses of SANT were included in this retrospect study. Patients underwent at least one radiological examination before surgery. The number, shape, margin, size, attenuation, signal intensity, homogeneity, and enhancing pattern of the lesion were evaluated by two abdominal radiologists independently. Immunohistochemistry reports were available for 11 patients. The immunoreactivity to the vascular markers CD8, CD31, and CD34 was assessed. RESULTS: The 14 SANT patients (7 men, 7 women; mean age, 43.5 years; age range, 24-56 years) presented with a single lesion and showed no specific clinical symptoms. Among 14 patients, 12 patients underwent MR scan, 5 patients underwent CT scan and 3 patients underwent PET-CT. On CT, all 5 lesions showed hypodensity on non-contrast images and spoke-wheel enhancing pattern after contrast administration, and calcification was observed. On T2WI, 10 cases(83.3%)showed hypointensity and 2 cases (16.7%) showed hyperintensity with central hypointensity. On T1WI, 10 cases (83.3%) were isointense and 2 cases (16.7%) were slightly hypointense. 10 cases (83.3%) showed hypointensity on DWI and 2 cases (16.7%) showed slightly hyperintensity on DWI. After contrast administration, all 12 lesions showed progressive enhancement. 18 F-fluorodeoxyglucose (FDG) uptake in the tumor was seen in all three cases that underwent PET-CT. The maximum standardized uptake value (SUVmax) was 4.5, 5.1, and 3.8 respectively. RESULTS: Apart from the progressive spoke-wheel enhancing pattern, DWI and ADC findings will add value to the diagnosis of SANT.
Assuntos
Histiocitoma Fibroso Benigno , Baço , Masculino , Humanos , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgia , Tomografia Computadorizada por Raios X , AbdomeRESUMO
BACKGROUND: It is unknown whether high-frequency ultrasound (HFUS) can evaluate invisible subcutaneous lesions. We aimed to investigate the diagnostic value of HFUS in invisible subcutaneous lesions. METHOD: Patients with invisible subcutaneous lesions were prospectively recruited from two centres. Before undergoing biopsy or surgery, each lesion was independently evaluated by two clinicians. One provides a clinical diagnosis by only clinical examination and the other provides an integrated diagnosis by combining clinical examination and HFUS information. Diagnoses were classified as correct, wrong, and indeterminate. A total of 391 lesions from 355 patients were enrolled, including 225 epidermoid cysts, 77 lipomas, 25 pilomatrixomas, 21 haemangiomas, 19 dermatofibromas, 11 dermatofibrosarcoma protuberans (DFSP), 7 neurofibromas, and 6 leiomyomas. Using pathological results as the gold standard, diagnostic performance was compared. RESULTS: The number of correct diagnoses increased from 185 (47.3%) by clinical examination alone to 316 (80.8%) after the addition of HFUS (P < 0.05). Meanwhile, the indeterminate diagnosis rate decreased from 143 (36.6%) to 10 (2.6%). Using HFUS, the accuracy improved significantly for epidermoid cysts (59.6% vs. 86.7%), lipomas (50.6% vs. 94.8%), pilomatrixomas (0% vs. 48.0%), haemangiomas (23.8% vs. 57.1%), and DFSPs (0% vs. 81.8%) (all p < 0.05). However, HFUS did not significantly improve the diagnostic accuracy of dermatofibromas (15.8% vs. 21.1%, p > 0.999), neurofibromas (42.9% vs. 71.4%, p = 0.625), or leiomyomas (16.7% vs. 100%, p = 0.063). CONCLUSION: Combining HFUS and clinical examination can generally improve the diagnostic accuracy and decrease the indeterminacy of invisible subcutaneous lesions, especially epidermoid cysts, lipomas, pilomatrixomas, haemangiomas, and DFSPs. However, for some rare lesions, HFUS cannot provide useful information.
Assuntos
Cisto Epidérmico , Doenças do Cabelo , Hemangioma , Histiocitoma Fibroso Benigno , Leiomioma , Lipoma , Neurofibroma , Pilomatrixoma , Neoplasias Cutâneas , Humanos , Cisto Epidérmico/diagnóstico por imagem , Hemangioma/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagemRESUMO
ABSTRACT: Adenodermatofibromas are an extremely rare subtype of dermatofibroma (DF) characterized by a dermal proliferation of spindle-shaped fibroblasts and histocytes, dilated glandular structures with apocrine secretion, and prominent vascular proliferation, with or without hemosiderotic features. We describe a recent extraordinary case of a hemosiderotic adenodermatofibroma in a 25-year-old female. We review histologic findings and theories behind etiology, as well as review the spectrum of clinical presentations for this lesion. We also discuss imaging findings that may make identification of these entities challenging.
Assuntos
Hemossiderose , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Feminino , Humanos , Adulto , Neoplasias Cutâneas/patologia , Histiocitoma Fibroso Benigno/patologia , Hemossiderose/patologia , Fibroblastos/patologia , Histiócitos/patologiaRESUMO
ABSTRACT: Epithelioid fibrous histiocytoma (EFH) is a distinctive benign cutaneous neoplasm composed of uniform epithelioid cells, often with binucleated cells. EFH are characterized by the presence of anaplastic lymphoma kinase ( ALK ) gene rearrangements with a variety of binding partners. These rearrangements result in the overexpression of ALK , which can be detected using immunohistochemistry. Cytoplasmic ALK expression is by far the most common pattern encountered. Here, we describe a case of EFH with a distinctive intranuclear dot-like ALK expression pattern. Subsequent next-generation DNA sequencing revealed a novel SP100::ALK gene fusion. Speckled protein-100 (SP100) is a constituent of nuclear dots, also known as promyelocytic leukemia bodies, which are still poorly understood membraneless subnuclear structures. Thus, this novel ALK fusion partner seems to explain this distinctive pattern of ALK localization. We examined ALK expression patterns in 11 other cases of EFH, but all showed typical cytoplasmic localization. This study expands the morphologic and molecular spectrum of EFH, provides a dramatic illustration of the ability of fusion partners to control protein localization, and implies that tumorigenic ALK signaling may occur at a variety of subcellular locations.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Quinase do Linfoma Anaplásico/genética , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Fusão Gênica , Rearranjo GênicoRESUMO
ABSTRACT: The locally invasive soft-tissue sarcoma, dermatofibrosarcoma protuberans (DFSPs), shares certain histologic features of the much more common and benign dermatofibroma (DF). While immunohistochemical stains, specifically cluster of differentiation 34 and Factor XIIIa, can be used to distinguish the 2 entities using microscopy, these markers are not entirely sensitive nor specific. Three-dimensionally, DFSP nuclei resemble a "puck" or "coin"-like shape. As hematoxylin/eosin-stained slides are prepared, these "puck" nuclei are fixed in an infinite number of orientations depending on their current position in rotation about their axes within the tumor cells. Under histological examination, this random nuclear positioning produces the appearance of 2 predominate morphologies: an ovoid "disk" shape (en face) and a narrow spindled shape (side view), which distribute in a roughly 50:50 ratio throughout the tumor sample slide. Nuclear morphology was analyzed in 324 DFSP and DF samples at high magnification (×400) to determine the presence or absence of a predominant morphology in which nuclei appear to alternate between an ovoid (en face) and spindled (side view) throughout most of the tumor sample. An alternating ovoid-spindled nuclear morphology was the predominant cytology in 98% of DFSP and was not predominant in 100% of DF samples (P < 0.001). This morphology was found to be highly specific (Sp = 1) and sensitive (Sn = 0.98) for DFSP. This unique nuclear morphology may be a more sensitive and specific diagnostic tool in identifying DFSP from DF in comparison with costly immunohistochemical stains.
Assuntos
Dermatofibrossarcoma , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Dermatofibrossarcoma/diagnóstico , Histiocitoma Fibroso Benigno/diagnóstico , Núcleo Celular , Amarelo de Eosina-(YS) , HematoxilinaRESUMO
ABSTRACT: Connexins play a crucial role in the formation of gap junctions that connect cells to each other, as well as cells to the surrounding environment. In recent years, connexin 43 has been extensively studied in various human tumors. In this study, we conducted an immunohistochemical analysis to evaluate the expression of connexin in 16 dermatofibromas (DFs) and 13 dermatofibrosarcoma protuberans (DFSP). Connexin was diffusely expressed in the cytoplasm of all DFs with moderate or strong intensity, whereas all DFSPs showed negative staining. In addition to its diagnostic implications, the loss of Cx43 may elucidate the invasive capacity of DFSP and offer a potential avenue for future therapeutic interventions.
Assuntos
Conexina 43 , Dermatofibrossarcoma , Regulação Neoplásica da Expressão Gênica , Histiocitoma Fibroso Benigno , Conexina 43/genética , Conexina 43/metabolismo , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/patologia , Humanos , Biomarcadores Tumorais/metabolismo , Masculino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Imuno-Histoquímica , Citoplasma/metabolismoRESUMO
BACKGROUND: Haemosiderotic and aneurysmal dermatofibromas are uncommon and frequently misdiagnosed lesions, which can be considered as different histopathological stages of the same tumour. A dermoscopic diagnosis testing accuracy has not been performed for these tumours to date. OBJECTIVES: To determine the diagnostic significance of dermoscopic structures and patterns associated with haemosiderotic/ aneurysmal dermatofibromas in a large series. METHODS: Dermoscopic images of histopathologically proven cases of 110 haemosiderotic/ aneurysmal dermatofibromas and 501 other tumours were collected. The frequency, sensitivity, specificity, positive predictive value and negative predictive value of the dermoscopic structures and patterns associated with these lesions were calculated. RESULTS: Haemosiderotic/ aneurysmal dermatofibromas are mostly symmetric lesions (86.5%), and a prominent homogeneous area was present in 100% of them. The presence of vascular structures was very common (86.4%), and dotted vessels were predominant (58.2%). Shiny white structures were seen in 85.5% of lesions, while a peripheral delicate pigment network was present in 69.1%. The most significant pattern was the one composed of a prominent homogeneous area and peripheral delicate pigment network, which showed a specificity of 100% with a relatively good sensitivity (69.1%). All the patterns containing a peripheral delicate pigment network showed very good specificities, positive predictive values and negative predictive values. Those patterns without a peripheral delicate pigment network showed the highest sensitivities, but they showed a significant overlap with other tumours, mainly with melanoma. CONCLUSIONS: Dermoscopy is helpful in improving the diagnostic accuracy of haemosiderotic/ aneurysmal dermatofibromas. However, there is a considerable dermoscopic overlap between these tumours and melanoma, specifically when the peripheral delicate pigment network is absent.
Assuntos
Histiocitoma Fibroso Benigno , Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/patologia , Dermoscopia , Melanoma/diagnóstico por imagem , Valor Preditivo dos TestesRESUMO
BACKGROUND: Multinucleate cell angiohistiocytoma (MCAH) is an unusual fibrohistiocytic proliferation in the dermis with vascular hyperplasia. Numerous clinicopathological studies of MCAH have been published, but little has been written in relation to treatment. OBJECTIVES: The aim of the present study is to review the therapeutical approaches for MCAH in the literature and to report the results of the different therapies followed at our institution. METHODS: A literature review was conducted including all MCAH published cases that followed any therapy. Search terms included "multinucleate cell angiohistiocytoma" or "MCAH" and "treatment" or "therapy". Also, all cases of MCAH treated at our institution from 2010 to 2020 are reported. RESULTS: The literature search revealed 16 cases of MCAH treated with any of the therapeutic options. At our institution, 9 patients have been treated of MCAH between 2010 and 2020. Over 75% of them were female, and the median age was 56 years (range 47-73). More than 50% had lesions on the dorsum of the hands. Surgical excision was indicated in 2 patients, ablative CO2 laser was used in 1 patient and the 6 remaining ones followed vascular-targeted therapies (PDL and IPL). A satisfactory cosmetic result was achieved in all of them. CONCLUSIONS: We propose PDL therapy as a first-line treatment for MCAH since it achieves satisfactory esthetic results, while being well-tolerated. Selecting those amenable patients according to morphologic characteristics may be useful to avoid unsuccessful therapies. In MCAH with predominant fibrous stroma, surgery or CO2 laser may be the best option.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Masculino , Histiocitoma Fibroso Benigno/cirurgia , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/terapia , Neoplasias Cutâneas/patologia , Células Gigantes/patologia , Hiperplasia/patologia , EstéticaRESUMO
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumour that occurs in the superficial tissue of extremities of children and young adults. A painless mass in the deep dermis and subcutaneous tissue is the main clinical manifestation. AFH also occurs infrequently in the central nervous system and is relatively common in the cranium. However, spinal canal AFH has not been described yet. We report a rare case of AFH in the cervical canal of a 20-year-old male patient. Microsurgical gross total resection of the tumour was performed, and the diagnosis was confirmed by postoperative pathology. To our knowledge, this is the first case of AFH in the spinal canal.
Assuntos
Histiocitoma Fibroso Benigno , Histiocitoma Fibroso Maligno , Masculino , Criança , Adulto Jovem , Humanos , Adulto , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgia , Histiocitoma Fibroso Maligno/diagnóstico por imagem , Histiocitoma Fibroso Maligno/cirurgiaRESUMO
Epithelioid fibrous histiocytoma (EFH) is a rare cutaneous neoplasm, which is characterized by the presence of rearrangements involving the ALK gene. Although EFH was long considered a variant of fibrous histiocytoma, the identification of its unique genetic signature confirmed that it represents a distinct entity. The aim of the present study was to examine a cohort of ALK-immunoreactive EFH cases to further characterize gene fusion partners. Next generation sequencing detected ALK fusions in 11 EFH cases identified in the pathology archives of two different institutions. The most common fusion partner was DCTN1 (N = 4) followed by CLTC (N = 2) and VCL (N = 2), while the remaining cases harbored fusions involving SPECC1L, PPFIBP1, and PRKAR1A. In one case no fusion was detected by NGS and FISH despite suitable sample quality. Notably, IHC demonstrated positive ALK expression and the level of aligned ALK reads was comparable to the fusion-positive cases. To the best of our knowledge, this is the first report of CLTC as a fusion partner in EFH. The two CLTC rearranged cases in our cohort also represent the first two EFH cases in the literature that involve exon 19 of ALK, instead of exon 20. These findings underscore the remarkable plasticity of ALK as an oncogenic driver and further expand the list of its potential fusion partners in EFH. Lastly this is also the first report of ALK-immunoreactive EFH with no underlying fusion suggesting a fusion independent transcription mechanism as seen in other tumors.
Assuntos
Cadeias Pesadas de Clatrina , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Quinase do Linfoma Anaplásico/genética , Cadeias Pesadas de Clatrina/genética , Fusão Gênica , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Benigno/metabolismo , Histiocitoma Fibroso Benigno/patologia , Humanos , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Neoplasias Cutâneas/genética , Ativação TranscricionalRESUMO
We present a sclerosing angiomatoid nodular transformation (SANT) case report in a 60 year-old-woman. SANT is an extremely rare benign disease of the spleen that it is radiologically similar to malignant tumors, and clinically difficult to differentiate from other splenic diseases. Splenectomy is both diagnostic and therapeutic in symptomatic cases. The analysis of the resected spleen is necessary to achieve the final diagnosis of SANT.
Assuntos
Histiocitoma Fibroso Benigno , Esplenopatias , Feminino , Humanos , Pessoa de Meia-Idade , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgia , Esplenectomia , Esplenopatias/diagnóstico por imagem , Esplenopatias/cirurgiaRESUMO
Herein, we present a patient with a lipidized fibrous histiocytoma, an underrecognized variant of dermatofibroma (cutaneous fibrous histiocytoma). Our patient presented with a nodule on the ankle that showed foamy histiocytes and hyalinized collagen bundles on histology. This case highlights a classic presentation and features of lipidized fibrous histiocytoma, raising further awareness of this distinctive variant of dermatofibroma that should be distinguished from xanthoma and xanthogranuloma.