RESUMO
We present a case detailing a 70-year-old female with a history of triple-negative breast carcinoma (TNBC) of the left breast and contralateral stage pT2a nodular melanoma of the right upper arm who underwent sentinel lymph node biopsy of the right axilla demonstrating a metastatic epithelioid tumor that was strongly positive for S-100 protein and SOX10. The tumor cells were negative for HMB-45 and Melan-A and positive for CK7 and other breast markers (GCDFP15, mammaglobin, and GATA3). While concerning for metastatic melanoma based on clinical history and initial immunohistochemistry, tumor morphology and subsequent immunohistochemistry was supportive of metastatic breast adenocarcinoma. This case demonstrates a rare but perilous diagnostic pitfall of triple-negative breast carcinomas that strongly and diffusely express S-100 protein and SOX10 mimicking melanoma.
Assuntos
Neoplasias da Mama/secundário , Melanoma/patologia , Metástase Neoplásica/genética , Proteínas S100/genética , Fatores de Transcrição SOXE/genética , Idoso , Biomarcadores Tumorais/metabolismo , Biópsia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica/métodos , Melanoma/genética , Metástase Neoplásica/patologia , Proteínas S100/metabolismo , Fatores de Transcrição SOXE/metabolismo , Biópsia de Linfonodo Sentinela/métodos , Neoplasias de Mama Triplo Negativas/diagnóstico , Neoplasias de Mama Triplo Negativas/genéticaRESUMO
Skeletal muscle tumors are traditionally classified as rhabdomyoma or rhabdomyosarcoma. We have identified an unusual adult rhabdomyoblastic tumor not clearly corresponding to a previously described variant of rhabdomyoma or rhabdomyosarcoma, characterized by a very striking proliferation of non-neoplastic histiocytes, obscuring the underlying tumor. Ten cases were identified in nine males and one female with a median age of 43 years (range 23-69 years). Tumors involved the deep soft tissues of the trunk (N = 4), lower limbs (N = 4), and neck (N = 2). Tumors were well-circumscribed, nodular masses, frequently surrounded by a fibrous capsule containing lymphoid aggregates and sometimes calcifications. Numerous foamy macrophages, multinucleated Touton-type giant cells, and sheets/fascicles of smaller, often spindled macrophages largely obscured the underlying desmin, MyoD1, and myogenin-positive rhabdomyoblastic tumor. Cases were wild type for MYOD1 and no other mutations or rearrangements characteristic of a known subtype of rhabdomyoma or rhabdomyosarcoma were identified. Two of four cases successfully analyzed using a next-generation sequencing panel of 170 common cancer-related genes harbored inactivating NF1 mutations. Next-generation sequencing showed no gene fusions. Clinical follow (nine patients; median 9 months; mean 23 months; range 3-124 months) showed all patients received wide excision; four patients also received adjuvant radiotherapy and none received chemotherapy. At the time of last follow-up, all patients were alive and without disease; no local recurrences or distant metastases occurred. We hypothesize that these unusual tumors represent rhabdomyoblastic tumors of uncertain malignant potential. Possibly over time they should be relegated to a new category of skeletal muscle tumors of intermediate (borderline) malignancy.
Assuntos
Neoplasias Musculares/classificação , Neoplasias Musculares/patologia , Músculo Esquelético/patologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rabdomioma/patologia , Rabdomiossarcoma/patologia , Adulto JovemRESUMO
AIMS: Rhabdomyosarcomas of bone are extremely rare, with fewer than 10 reported cases. A very rare subtype of spindle cell/sclerosing rhabdomyosarcoma harbouring a FUS-TFCP2 fusion and involving both soft tissue and bone locations has been reported very recently. We report only the fourth case of this unusual, clinically aggressive rhabdomyosarcoma. MATERIAL AND RESULTS: A previously well 72-year-old male presented with a destructive lesion of the mandible. Morphological and immunohistochemical study of a needle biopsy and the subsequent resection showed a spindle cell rhabdomyosarcoma. RNA-seq, RT-PCR and FISH confirmed the presence of the FUS-TFCP2 fusion. CONCLUSIONS: Spindle cell rhabdomyosarcomas carrying the FUS-TFCP2 fusion are very rare rhabdomyosarcoma variants with osseous predilection. The classification and differential diagnosis of this unusual molecular variant of spindle cell/sclerosing rhabdomyosarcoma are discussed.
Assuntos
Proteínas de Ligação a DNA/genética , Neoplasias Mandibulares/genética , Proteínas de Fusão Oncogênica/genética , Proteína FUS de Ligação a RNA/genética , Rabdomiossarcoma/genética , Fatores de Transcrição/genética , Idoso , Humanos , Masculino , Neoplasias Mandibulares/patologia , Rabdomiossarcoma/patologiaRESUMO
BACKGROUND: Epithelioid benign fibrous histiocytoma has been considered a variant of fibrous histiocytoma, but is now considered a distinct entity, typically showing ALK expression. Most show typical morphological features, including an epidermal collarette and large, bland, epithelioid cells. We have recently encountered 2 examples showing an unusual pattern of pericellular calcification, a previously unreported finding. METHODS: Available slides were reviewed and clinical follow-up was obtained. RESULTS: These lesions occurred on the chins of a 16-year-old and 19-year-old female and showed prominent pericellular calcification in addition to otherwise-typical features of epithelioid fibrous histiocytoma. By immunohistochemistry, both lesions were intensely positive for ALK protein. Clinical follow-up (available for 1 case) showed the patient to be disease-free 5 months after excision. CONCLUSIONS: To the best of our knowledge, epithelioid fibrous histiocytomas showing "chondroblastoma-like" calcification have not been previously reported. The chief significance of this finding seems to be in its potential for confusion with other calcifying tumors of the skin and subcutis. Awareness that epithelioid fibrous histiocytomas may show this unusual morphological finding, careful morphological evaluation and ancillary immunohistochemical studies, including ALK protein, should allow for their confident diagnosis in essentially all instances.
Assuntos
Histiocitoma Fibroso Benigno/patologia , Neoplasias de Tecidos Moles/patologia , Adolescente , Queixo , Feminino , Humanos , Adulto JovemRESUMO
Histiocyte-rich rhabdomyoblastic tumor is a recently described skeletal muscle neoplasm of uncertain malignant potential, characterized by slow growth, a fibrous capsule containing peripheral lymphoid aggregates, spindle-to-epithelioid cells with a rhabdomyoblastic immunophenotype, and a dense histiocytic infiltrate. It most commonly arises within the muscles of the lower legs and trunk in young-to-middle-aged men, and initial reports suggest indolent behavior. In this paper, we present two additional cases of histiocyte-rich rhabdomyoblastic tumor with similar clinicopathologic features and discuss the differential diagnosis including its overlap with inflammatory leiomyosarcoma.
Assuntos
Histiócitos/patologia , Neoplasias Musculares/patologia , Rabdomioma/patologia , Adulto , Biomarcadores Tumorais/análise , Biópsia com Agulha de Grande Calibre , Diagnóstico Diferencial , Histiócitos/química , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Valor Preditivo dos Testes , Rabdomioma/química , Rabdomioma/cirurgiaRESUMO
We present a unique case of inflammatory pseudotumour involving gluteal subcutaneous tissue with the sparing of superficial fat and report its contrast-enhanced CT, F-18 fluorodeoxyglucose positron emission tomography/CT and pathological findings. Although rare, inflammatory pseudotumours have been reported with a diverse spectrum of locations; however, the involvement of the subcutaneous tissue overlying the gluteal muscles with sparing of the most superficial fat has not been reported.
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The given name of the co-author of the article mentioned above was incorrectly spelled. The correct name should have been "Melanie Bourgeau" instead of "Melanine Bourgeau." The original article has been corrected.
RESUMO
We report 21 cases of a distinctive and unique vascular tumor which we propose to be a pure lymphatic-type angiosarcoma characterized by architectural and growth characteristics of angiosarcoma, cytologic, and immunohistochemical features of lymphatic differentiation, a prominent lymphocytic infiltrate, and variable nuclear grade. Patients included 12 males and 9 females with a median age of 65 years (range: 32 to 95 y). Tumors involved the head and neck (n=11), lower extremities (n=5), trunk (n=4), and upper extremity (n=1) and were located superficially in the dermis and/or subcutis. Tumors were designated "low grade" (n=10) when the nuclear grade was low, and vascular channel formation was evident throughout but with multilayering of endothelium within the vessels. Cases were designated "high grade" (n=11) when nuclei appeared higher grade with more rounded contours and prominent nucleoli and when solid areas predominated over vascular channel formation. A striking feature of both groups was the presence of a dense, lymphocytic infiltrate with occasional germinal center formation. All cases strongly and diffusely expressed at least 1 lymphatic marker (21/21) with podoplanin (17/19) and Prox-1 (11/11) more commonly expressed than LYVE-1 (5/10). No consistent molecular alteration was identified. Follow-up on 17 patients (median: 41 mo, mean: 54 mo) showed 10 patients were alive without disease, 5 were alive with disease, 1 died of other cause, and 1 died of disease. Local recurrence developed in 9 cases and metastasis in 2 cases, although neither correlated with grade as defined. On the basis of clinical follow-up to date, the natural history of lymphatic-type angiosarcoma appears to be more favorable than other forms of cutaneous angiosarcoma.
Assuntos
Hemangioendotelioma/patologia , Hemangiossarcoma/patologia , Linfangiossarcoma/patologia , Neoplasias Cutâneas/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Feminino , Seguimentos , Hemangioendotelioma/diagnóstico , Hemangioendotelioma/mortalidade , Hemangiossarcoma/diagnóstico , Hemangiossarcoma/mortalidade , Humanos , Linfangiossarcoma/diagnóstico , Linfangiossarcoma/mortalidade , Vasos Linfáticos/patologia , Linfócitos/metabolismo , Masculino , Pessoa de Meia-Idade , Prognóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/mortalidade , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/mortalidade , Análise de SobrevidaRESUMO
Recent work has revealed SMARCB1/INI1 loss by immunohistochemistry in a subset of epithelioid schwannomas and explored the significance of cytologic atypia and increased mitotic activity in these tumors. Additional studies have evaluated the utility and limitations of histone H3K27 trimethylation in diagnosis of high-grade and low-grade malignant peripheral nerve sheath tumors. New terminology regarding nerve sheath tumors in neurofibromatosis type 1 patients was proposed during a 2016 conference to better define guidelines for classification of this group of tumors. This review highlights novel findings and practical applications relating to these topics in peripheral nerve sheath tumors.
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Neoplasias de Bainha Neural , Biomarcadores Tumorais/genética , Metilação de DNA , Diagnóstico Diferencial , Histonas/metabolismo , Humanos , Imuno-Histoquímica , Neoplasias de Bainha Neural/classificação , Neoplasias de Bainha Neural/diagnóstico , Neoplasias de Bainha Neural/genética , Neoplasias de Bainha Neural/patologia , Prognóstico , Terminologia como AssuntoRESUMO
Primary cardiac tumors are rare, and most are benign. Intimal sarcomas are among the rarest of the malignant cardiac tumors; they are aggressive and associated with a poor prognosis. Whereas transesophageal echocardiography has been instrumental in evaluating cardiac masses, other imaging methods, such as cardiac magnetic resonance, have proved invaluable in accurately characterizing these masses. We present the case of a 49-year-old woman in whom we diagnosed a primary intimal sarcoma of the left atrial appendage, and we discuss the importance of multimodal imaging in the evaluation and diagnosis of cardiac masses.
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Ecocardiografia Transesofagiana/métodos , Neoplasias Cardíacas/diagnóstico , Imagem Cinética por Ressonância Magnética/métodos , Imagem Multimodal , Sarcoma/diagnóstico , Apêndice Atrial , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Giant cell rich lesions of the temporal bone encompass a wide spectrum of disease that includes infectious, reactive, and neoplastic processes. When dealing with any lesion that can potentially involve bone, it is important to understand both the clinical presentation and to correlate the histologic findings with the radiologic imaging. This review discusses the clinical, the pathologic features including the differential diagnosis, and the treatment of some of the more commonly encountered giant cell rich entities in this region.
Assuntos
Tumor de Células Gigantes do Osso/patologia , Neoplasias Cranianas/patologia , Osso Temporal/patologia , Diagnóstico Diferencial , Tumor de Células Gigantes do Osso/diagnóstico , Humanos , Neoplasias Cranianas/diagnósticoRESUMO
CONTEXT: -High-molecular weight cytokeratins, such as cytokeratin 5 (CK5), are helpful to distinguish usual ductal hyperplasia (UDH) from atypical ductal hyperplasia (ADH) or low-grade ductal carcinoma in situ (DCIS). Few studies have looked at combining CK5 with estrogen receptor (ER) to differentiate UDH from ADH. OBJECTIVE: -To evaluate the expression pattern of CK5 and ER as single or combined markers to separate UDH from ADH and low-grade DCIS. DESIGN: -A total of 23 ADH, 10 low-grade DCIS, and 32 UDH whole-tissue slides were stained for ER, CK5, progesterone receptor (PR), and Bcl-2. Nuclear staining of ER and PR was scored as diffuse (>80%), focal (10%-80%), or negative (<10%). Cytoplasmic staining of CK5 and Bcl-2 was scored as diffuse (>60%), focal (10%-60%), or negative (<10%). Differences in staining patterns were evaluated. RESULTS: -For ER staining: 94% of ADH/DCIS cases showed a diffuse staining pattern, whereas none of the 32 UDH cases showed diffuse staining. For CK5 staining: 96% of ADH/DCIS cases were negative or focally positive, whereas all 32 UDH cases had diffuse staining. The combination of ER and CK5 increased the sensitivity (94% to 97%). For PR staining: 11 of 23 ADH cases (48%), 6 of 10 DCIS cases (60%), and 4 of 32 UDH cases (13%) showed diffuse staining. Bcl-2 staining showed no statistical significance (P = .73). CONCLUSIONS: -Although morphology remains the gold standard, ER and CK5 are useful makers to differentiate UDH from ADH. Progesterone receptor staining may have limited value, and Bcl-2 staining is not useful.
Assuntos
Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Intraductal não Infiltrante/diagnóstico , Queratina-5/metabolismo , Receptores de Estrogênio/metabolismo , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/metabolismo , Carcinoma Ductal de Mama/patologia , Carcinoma Intraductal não Infiltrante/metabolismo , Carcinoma Intraductal não Infiltrante/patologia , Diagnóstico Diferencial , Feminino , Humanos , Hiperplasia/diagnóstico , Hiperplasia/metabolismo , Hiperplasia/patologiaRESUMO
Although most cases of atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) can be diagnosed solely on the basis of histologic features, those lacking diagnostic histologic features require ancillary studies for accurate classification. Fluorescent in situ hybridization (FISH) for amplification of MDM2 has been considered the gold standard for diagnosis in these situations. Immunostaining for MDM2 and/or CDK4 has been adopted as a surrogate method because of its high concordance rate with FISH and lower cost. However, studies examining the concordance of the 2 methods have been based preferentially on cases in which the diagnosis could be established histologically. No study has explored the concordance between the 2 methods in histologically ambiguous cases or in cases in which the diagnosis of ALT/WDL is not apparent after a review of all slides. To address this, we performed immunostaining for MDM2 and CDK4 on 183 well-differentiated lipomatous tumors that could not be diagnosed on purely histologic grounds and that were, therefore, subjected to FISH analysis. These included ALT/WDLs (n=56), lipomas (n=96), and lipoma variants (n=31). Staining for MDM2 and CDK4 was noted in 25/56 and 23/56 ALT/WDL, respectively, giving a sensitivity of 45% and 41% and a specificity of 98% and 92%. Staining was noted exclusively in the nuclei of atypical cells and not in the nuclei of adipocytes. Staining for MDM2 and CDK4 occurred in 2/125 and 10/117 benign lipomatous lesions, respectively. False-positive staining was equivalent in intensity to ALT/WDL. We conclude that MDM2 and CDK4 staining is a relatively insensitive method for diagnosing ALT/WDL in cases that are histologically ambiguous, as staining is restricted to neoplastic cells with atypia that are underrepresented in these cases. Therefore, in cases like ours that closely simulate clinical practice, FISH is the more reliable and cost-effective option.
Assuntos
Biomarcadores Tumorais/metabolismo , Quinase 4 Dependente de Ciclina/metabolismo , Lipoma/diagnóstico , Lipoma/metabolismo , Lipossarcoma/diagnóstico , Lipossarcoma/metabolismo , Proteínas Proto-Oncogênicas c-mdm2/metabolismo , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lipoma/patologia , Lipossarcoma/patologia , Sensibilidade e EspecificidadeRESUMO
To discriminate lipomas from atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) we perform fluorescence in situ hybridization (FISH) for MDM2 amplification in several problematic situations: "lipomas" >10 cm, lesions with equivocal atypia, recurrent "lipomas," all retroperitoneal/pelvic/abdominal "lipomas", and in cases not fitting the above criteria but having worrisome clinical or radiologic features. To ascertain the validity of these criteria, we have reviewed our experience with 301 consecutive differentiated lipomatous tumors in which the diagnosis of ALT could not be established on the basis of histologic sections and in which FISH was performed on the basis of the above criteria. The final diagnosis was based on MDM2 amplification status. Given the nature of this study to evaluate difficult lesions, most cases included (74%) were received in consultation. This enhanced our study series for borderline cases, and the data presented may not be generalizable to adipocytic tumors seen outside a subspecialty setting. Of 301 cases, 108 proved to be ALT/WDL (36%). The most common test indication was size >10 cm (n=187), followed by equivocal atypia (n=145), retroperitoneal/pelvic/abdominal location (n=86), recurrence (n=33), and clinical concern (n=12). Of the tumors >10 cm, 68 (36%) proved to be ALT/WDL, whereas the remainder were interpreted as lipoma or its variants (eg, spindle cell or pleomorphic lipoma). The 2 groups did not differ statistically in size, although ALTs consistently occurred in patients above 50 years of age. Of the cases with equivocal atypia, 72 (50%) proved to be ALT/WDL. Those in the retroperitoneum/abdomen/pelvis were ALT/WDL in 30 cases (35%), and those that had recurred were ALT in 18 cases (55%). Recurrence, atypia, and having multiple indications for testing were more common in ALT than in benign lesions (P=0.02, 0.0001, 0.0012, respectively). No ALT/WDL occurred in the hands and feet, and only a single ALT/WDL was superficial (1 ALT/WDL vs. 60 lipoma/spindle cell or pleomorphic lipoma). Small (<10 cm) retroperitoneal tumors without additional features were always benign (n=9). On the basis of our results, FISH testing is recommended for: (1) recurrent lesions; (2) deep extremity lesions that are >10 cm in patients over 50 years of age; (3) in cases with equivocal atypia; (4) in lesions of the retroperitoneum/pelvis/abdomen, and in special clinical situations as directed by treating clinicians. Testing is low yield in superficial lesions, in small extremity lesions without additional indicators for testing, in large extremity lesions without additional features in patients under the age of 50, and in lesions arising in the hands/feet. More evidence is needed regarding testing in small retroperitoneal lesions without additional features. By adopting these criteria, we could have avoided testing 74 cases, missing a single superficial ALT/WDL.