Neumotórax espontáneo persistente como manifestación primaria de sarcoma sinovial pleuropulmonar primario: a propósito de un caso / Persistent spontaneous pneumothorax as a primary manifestation of primary synovial sarcoma of the lung: a case report

El sarcoma sinovial pleuropulmonar (SSPP) es un tumor primario de pulmón, maligno, infrecuente en pediatría (prevalencia 0,1-0,5 %) que afecta predominantemente a adolescentes y adultos jóvenes. Se ha descrito una sobrevida global cercana al 30 % a los 5 años. Se reporta el caso de un paciente de 12 años de edad, previamente sano, que presentó tos, dolor torácico y disnea de comienzo súbito, como manifestación inicial de neumotórax izquierdo, el que persistió a los 4 días y requirió resección quirúrgica de lesión bullosa pulmonar. Se realizó diagnóstico histológico de sarcoma sinovial pleuropulmonar confirmado por estudio molecular, que evidenció la translocación cromosómica entre el cromosoma X y el 18: t(X;18) (p11.2;q11.2) de la pieza quirúrgica extirpada. Ante pacientes con neumotórax persistente o recidivante, es importante descartar causas secundarias, entre ellas, sarcoma sinovial pleuropulmonar. Su ominoso pronóstico determina la necesidad de arribar a un diagnóstico temprano e implementar un tratamiento agresivo

Pleuropulmonary synovial sarcoma (PPSS) is a primary malignancy of the lung, uncommon in pediatrics (prevalence: 0.1­0.5%) that predominantly affects adolescents and young adults. Overall survival has been reported to be close to 30% at 5 years. Here we report the case of a previously healthy 12-year-old male patient who presented with cough, chest pain, and dyspnea of sudden onset as initial manifestation of left pneumothorax, which persisted after 4 days and required surgical resection of pulmonary bullous lesion. A histological diagnosis of pleuropulmonary synovial sarcoma was made and confirmed by molecular study, which showed chromosomal translocation between chromosomes X and 18: t(X;18) (p11.2;q11.2) in the surgical specimen removed. In patients with persistent or recurrent pneumothorax, it is important to rule out secondary causes, including pleuropulmonary synovial sarcoma. Such poor prognosis determines the need for early diagnosis and aggressive treatment.

Primary synovial sarcoma of lung: a clinicopathological analysis of 12 cases / 中华病理学杂志

Objective: To investigate the clinicopathological features, immunophenotype, molecular features and differential diagnosis of primary synovial sarcoma of the lung (PSSL). Methods: Twelve cases of PSSL were collected at Henan Provincial People's Hospital, during May 2010 and April 2021, and their clinicopathological parameters were summarized. SS18-SSX, H3K27Me3, and SOX2 were added to the original immunomarkers to evaluate their diagnostic value for PSSL. Results: The age of 12 patients when diagnosed ranged from 32 to 75 years (mean of 50 years). There were 7 males and 5 females, 2 left lung cases and 10 right lung cases. Of the 6 patients who underwent surgical resection, five cases were confined to lung tissue (T1), one case had mediastinal invasion (T3), two cases had regional lymph node metastasis (N1), and none had distal metastasis. Microscopically, 11 cases showed monophasic spindle cell type and one case showed biphasic type composed of mainly epithelial cells consisting of cuboidal to columnar cells with glandular and cribriform structures. It was difficult to make the diagnosis by using the biopsy specimens. Immunohistochemistry (IHC) showed CKpan expression in 8 of 12 cases; EMA expression in 11 of 12 case; TLE1 expression in 8 of 12 cases; S-100 protein expression in two of 12 cases; various expression of bcl-2 and vimentin in 12 cases, but no expression of SOX10 and CD34 in all the cases. The Ki-67 index was 15%-30%. The expression of SS18-SSX fusion antibody was diffusely and strongly positive in all 12 cases. SOX2 was partially or diffusely expressed in 8 of 12 cases, with strong expression in the epithelial component. H3K27Me3 was absent in 3 of 12 cases. SS18 gene translocation was confirmed by fluorescence in situ hybridization (FISH) test in all 12 samples. Six cases underwent surgery and postoperative chemotherapy, while the other six cases had chemotherapy alone. Ten patients were followed up after 9-114 months, with an average of 41 months and a median of 26 months. Five patients survived and five died of the disease within two years. Conclusions: PSSL is rare and has a broad morphological spectrum. IHC and molecular tests are needed for definitive diagnosis. Compared with current commonly used IHC markers, SS18-SSX fusion antibody has better sensitivity to PSSL, which could be used as an alternative for FISH, reverse transcription-polymerase chain reaction or next generation sequencing in the diagnosis of PSSL.

Sarcoma sinovial primario pulmonar: un caso inusual en pediatría / Primary pulmonary synovial sarcoma: an unusual case in pediatrics

El sarcoma sinovial primario de pulmón (SSPP) localizado en bronquio, es una entidad no reportada en la edad pediátrica. Se presenta el caso de un niño de siete años con antecedente de aparentes neumonías recurrentes derechas de siete meses de evolución; en la evaluación por neumología pediátrica se destaca en las radiografías de tórax, la presencia de atelectasias recurrentes en lóbulo medio e inferior derecho, por lo que se realiza broncoscopia, donde se observa una masa obstruyendo el 100% de la luz del bronquio fuente derecho y se sospecha tumor carcinoide. Se realiza extirpación de masa endobronquial con fines diagnósticos y terapéuticos, incluyendo resección segmentaria bronquial y anastomosis término-terminal. El respectivo análisis inmunohistoquímico muestra hallazgos sugestivos de sarcoma sinovial monofásico. Se descarta compromiso tumoral extrapulmonar, por lo que se diagnostica como tumor primario de bronquio. Se administraron 7 ciclos de quimioterapia y 31 sesiones de radioterapia. Actualmente en control, sin evidencia de metástasis, tumores residuales o recidivas.

Primary Synovial Sarcoma of Lung (PSSL) located in the bronchus is an unreported entity in pediatric age. We present the case of a 7-year-old child with a history of apparent recurrent right pneumonia of 7 months of evolution; in the evaluation by pediatric pulmonology, the presence of recurrent atelectasis in the middle and lower right lobe is highlighted on chest X-rays, so bronchoscopy is performed, where a mass is observed obstructing 100% of the right bronchus lumen and carcinoid tumor is suspected. Endobronchial mass resection is performed for diagnostic and therapeutic purposes, including bronchial segmental resection and termino-terminal anastomosis. The respective immunohistochemical analysis shows suggestive findings of monophasic synovial sarcoma. Extrapulmonary tumor involvement is ruled out, so it is diagnosed as a primary bronchial tumor. 7 cycles of chemotherapy and 31 sessions of radiation therapy are given. Currently in control, with no evidence of metastasis, residual tumors, or recurrence.

Synovial Sarcoma Vulva: A Case Report.

Introduction: Contrary to its name, synovial sarcoma does not arise from the synovial membrane but from multi-potent stem cells and can present in any part of the body. Very few cases of vulval synovial sarcoma have been reported in the literature; we report on such a presentation. Th ese tumors can present as painless lumps, which must be completely excised to give the best prognosis. Th erefore the diagnosis of synovial sarcoma should always be kept in mind in the management of vulval masses, especially in young patients.

Distinct Clinical Characteristics of Unplanned Excision in Synovial Sarcoma

BACKGROUND: We aimed to describe the clinical characteristics and outcomes of unplanned excisions of synovial sarcomas. METHODS: In total, 90 patients with synovial sarcomas in the extremities were retrospectively reviewed. Patients were divided into unplanned excision (n = 38) and planned excision (n = 52) groups. The average follow-up period was 6 years. The clinicopathological characteristics and oncologic outcomes were compared. RESULTS: The unplanned excision group showed longer duration of symptoms before diagnosis (p = 0.023), smaller lesion dimensions (p = 0.001), superficial location (p = 0.049), and predilection in the upper extremities (p = 0.037). Synovial sarcomas were most commonly misdiagnosed as neurogenic tumors (56%) in the upper extremities or as cystic masses (47%) in the lower extremities. Oncological outcomes, including disease-specific survival, metastasis-free survival, or local recurrence were not significantly different between the 2 groups (p = 0.159, p = 0.444, and p = 0.335, respectively). Repeated unplanned excision (p = 0.012) and delayed re-excision (p = 0.038) were significant risk factors for local recurrence in the unplanned excision group. CONCLUSIONS: Synovial sarcomas treated with unplanned excision had distinct characteristics. These findings are important for developing diagnostic and therapeutic strategies for synovial sarcoma.

Immunohistochemical validation of TLE1, a novel marker, for synovial sarcomas.

Background & objectives: Logistic and financial constraints limit application of several available immunohistochemical (IHC) markers and molecular analysis in every case of synovial sarcoma, diagnosed in our settings. Recently, TLE1 has been recognized as a robust IHC marker for diagnosing a synovial sarcoma. Here, we present IHC features of synovial sarcomas, including TLE1 expression in these cases and in some other tumours. Methods: Conventional sections from 42 synovial sarcomas (30 retrospective & 12 prospectively diagnosed) were subjected to TLE1 IHC staining, including 21 tumours confirmed with molecular testing. TLE1 immunostaining was graded from 0, 1+, 2+, 3+, with 2+ or 3+ grades interpreted as positive staining. Results: Of the 42 tumours, 26 (61.9%) were of monophasic spindle cell type, 13 biphasic type (30.9%), two (4.7%) calcifying type and remaining one (2.3%) was a poorly differentiated synovial sarcoma. On immunohistochemistry (IHC), tumours were positive for epithelial membrane antigen (EMA) (26/34, 76.4%), cytokeratin (CK)7 (6/10, 60%), CK/MNF116 (6/21, 28.6%), B cell lymphoma 2 (BCL2) (36/37, 97.3%), cluster of differentiation molecule 99 (MIC2) (23/31, 74.1%) and transducin-like enhancer of split 1 (TLE1) (40/42, 95.2%), while negative for CD34 in all 21 tumours, wherever performed. TLE1 was also positive in tumour controls, including schwannomas (5/5, 100%), neurofibromas (2/2, 100%), malignant peripheral nerve sheath tumors (2/12, 17%) and Ewing sarcomas (4/10, 40%). TLE1 sensitivity for diagnosis of synovial sarcomas was 95.2 per cent. Its overall specificity was 63.7 per cent, whereas with regards to tumors forming its closest differential diagnoses, its specificity was 72 per cent. Interpretation & conclusions: Although molecular confirmation is the diagnostic gold standard for synovial sarcoma, TLE1, in view of its high sensitivity may be a useful marker within the optimal IHC panel comprising EMA, BCL2, MIC2, CD34 and CK7, especially on small biopsy samples, for substantiating a diagnosis of synovial sarcoma. Awareness of TLE1 expression in other tumours and its correct interpretation are necessary.

Pericardium: An exceedingly rare site for a primary biphasic synovial sarcoma.

Pericardial neoplasms are rare. Among pericardial neoplasms, metastatic spread is more common and primary synovial sarcomas of the pericardium are exceedingly rare. A 61-year-old man was found dead in bed. Autopsy revealed the cause of death as atherosclerotic and hypertensive heart disease. There was a pericardial soft tissue mass lying predominantly over the left atrium. The cut surface was bulging out and grayish white in color with cystic changes. Microscopy showed spindle cells in densely cellular fascicles surrounding the epithelial cells. The epithelial cells were cuboidal and formed glandular structures and cleft-like spaces. Immunohistochemistry demonstrated cytokeratin and vimentin positivity in the spindled areas. Molecular analysis confirmed the diagnosis. Synovial sarcoma may be mistaken for other common neoplasms occurring in the pericardium due to its rarity. In all cases of pericardial tumors, a diligent search for synovial sarcoma by way of histological analysis including, immunohistochemistry and molecular analysis is indicated.

Sarcoma sinovial bifásico pulmonar: presentación de un caso y revisión de la literatura / Biphasic synovial sarcoma of the lung: report of a case and review of the literature

Introduction: Synovial sarcoma is an aggressive neoplasm described in several locations but is uncommon in the lung. Method: We report a case of biphasic synovial sarcoma of the lung stressing the histologic and immunohistochemical characteristics, genetics and differential diagnosis. Results: a biphasic pattern and SYT-SSX translocation were demostrated. Comments: histology and immuno-histochemistry lead to diagnosis most of the times but the typical translocation is definitive.

Introducción: El sarcoma sinovial es una neoplasia agresiva que aun habiendo sido descrita en múltiples localizaciones, resulta sumamente infrecuente en localización pulmonar. Método: Presentamos un caso de sarcoma sinovial bifásico de localización pulmonar haciendo hincapié en sus características histológicas inmunohistoquímicas y genéticas así como en su diagnóstico diferencial. Resultados: La neoplasia mostraba un patrón bifásico bien caracterizado. El estudio genético demostró la translocación SYT-SSX. Comentarios: Si bien la histología y la inmunohistoquímica permiten en la mayoría de los casos el diagnóstico del sarcoma sinovial, es la translocación genética la que define verdaderamente esta entidad.

Sinoviosarcoma de tornozelo: quarta recidiva / Ankle's synoviosarcoma: fourth relapse

Esse relato apresenta o caso de uma paciente com quarta recidiva de sinoviosarcoma, um sarcoma de partes moles que possui estreita relação com bainhas tendinosas, bursas e cápsulas articulares. A paciente apresentou uma quarta recidiva, sendo necessária a realização da amputação de perna, visto que as cirurgias conservadoras já não aliviam o sofrimento da paciente. O principal objetivo deste relato de caso é apresentar um caso clássico de neoplasia rara, expondo a doença e fazer uma breve revisão da literatura e mostrar sua importância, visto que corresponde a apenas 5% das neoplasias de partes moles.

This report presents the case of a female patient with fourth synoviosarcoma recurrence, a sarcoma of soft parts that have close relationship with tendom sheaths, bursas and articular capsule.The patient present her fourth recurrence, in wich the perfomance of amputation was required, since the conservative surgeriesno longer relieved the patient suffering. The main objective of this case report is to present a classic case of a rare cancer, exposing the disease, and to make a brief review of the literature to show its importance, since it corresponds to only five percent of the cancers of soft parts.

Primary Pulmonary Biphasic Synovial Sarcoma Confirmed by Molecular Detection of a SYT-SSX2 Fusion Gene: Report of 1 Case

We experienced a case of primary pulmonary biphasic synovial sarcoma, which was confirmed by immunohistochemistry and molecular testing of SYT-SSX2 fusion transcripts. The patient was a 61-year-old man who presented with a well-defined mass in the left upper lung field on chest radiography. Left upper lobectomy with lymph node dissection was performed. Histological and immunophenotypic features were consistent with biphasic synovial sarcoma. Reverse transcriptase polymerase chain reaction, performed using RNA extracted from frozen tumor samples for the detection of SYT-SSX fusion gene, amplified a single 331-bp fragment that was characteristic of the SYT-SSX2 fusion transcripts. We report a case of primary pulmonary biphasic synovial sarcoma, which was confirmed by SYT-SSX2 fusion transcripts, and present a brief review of the literature on Korean cases.

Sarcoma sinovial intraoral primario monofásico / Monophasic synovial sarcoma of the oral cavity: report of one case

El sarcoma sinovial es un tumor maligno de partes blandas, bien diferenciado y que representa entre 5.6 por ciento a 10 por ciento de todos los sarcomas. Su localización en cabeza y cuello no es común, y representa cerca de un 9 por ciento, con menos de 100 casos reportados en la literatura. La localización intraoral es muy peculiar, existiendo 32 casos previamente descritos en el mundo, de los cuales 3 corresponden al tipo monofásico. Se presenta un caso de un paciente varón de 16 años con un caso de sarcoma sinovial intraoral monofásico y una revisión de la literatura disponible.

Synovial sarcoma is a well-differentiated malignant tumor of soft tissues, that corresponds approximately 10 percent of all soft tissue sarcomas. Its location in the head and neck uncommon and the location in the oral cavity is really peculiar, with only 32 previously described cases, of which only three corresponded to the monophasic type. We report a 16 years old male patient consulting for a lump in the right oral mucosa. The patient was operated in two occasions excising the tumor with radical lymph node dissection and parotid gland excision. The pathological diagnosis was a monophasic intraoral synovial sarcoma. Postoperative radiotherapy was recommended but not done. After 16 months of follow up the patient is without evidence of relapse.

Biphasic synovial sarcoma of oral cavity

Synovial sarcoma is a mesenchymal spindle cell tumour, which is unrelated to synovium and shows variable epithelial differentiation. Typically, synovial sarcoma arises in the soft tissues of the extremities but cases in the head and neck region are less common and oral cavity involvement is extremely rare. A 17-year-old girl presented with a gradually increasing swelling on the right cheek for 2 years, which on biopsy, revealed a biphasic tumour comprising fascicles of spindle shaped cells with gland formation by epithelial cells and scattered masts cells. Histological diagnosis of biphasic synovial sarcoma was confirmed on immunohistochemistry by strong positivity for EMA, S-100 and CD-99 in both epithelial as well as spindle cell areas

Primary synovial sarcoma of the abdominal wall: a case report and review of the literature

Synovial sarcoma is a malignant mesenchymal neoplasm which commonly occurs in the extremities of adults, in close association with joint capsules, tendon sheaths, bursae and fascial structures. Only a few cases of synovial sarcoma occurring in the abdominal wall have been reported. A case of a primary synovial sarcoma arising from the anterior abdominal wall fascial aponeurosis is presented

Detecção da fusão SS18-SSX em material parafinado e comparação de métodos moleculares como ferramentas no diagnóstico do sarcoma sinovial / Detection of SS18-SSX fusion transcripts in formalin-fixed parafin-emedded tissue and comparison of molecular methods as diagnostic tools for synovial sarcoma

Dos 134 Sarcoma Sinoviais estudados, a fusão SS18-SSX foi identificada em 126 (96 por cento) casos (74 SS18-SSX1, 52 SS18-SSX2) através de qRT-PCR e 120 por RT-PCR convencional. 101 casos no array de tecidos, analisados por FISH revelaram 87 (86 por cento) mostraram rearranjo do SS18. Um dos 3 casos não analisados por RT-PCR por não ter gerado cDNA de qualidade foi positivo por FISH. Áreas pouco diferenciadas foram identificadas em 44 casos (31 por cento). Não houve correlação estatisticamente significante entre os subtipos bifásico, monofásico e o tipo de fusão. Cinco casos foram negativos através dos três métodos utilizados. Concluímos que os métodos moleculares são ferramentas auxiliares importantes para o diagnóstico de SS com 96 por cento de sensibilidade e 100 por cento de especificidade.

Of 134 Synovial Sarcomas, SS18-SSX fusion products were found in 126 (96 per cent) cases using quantitative and 120 by conventional RT-PCR. 101 cases in a tissue microarray, analyzed by FISH, revealed that 87 (86 per cent) showed SS18 rearrangement. One of 3 cases, not analyzed by RT-PCR due to poor quality RNA, was positive by FISH. Poorly differentiated areas were identified in 44 cases (31 per cent). There was no statistically significant association between biphasic, monophasic and fusion type. Five cases were negative for SS18 rearrangement by all methods. We concluded that the employment of a combination of molecular approaches is a powerful aid to diagnosing synovial sarcoma giving at least 96 per cent sensitivity and 100 poer cent specificity.

Primary Synovial Sarcoma of the Thyroid Gland

Synovial sarcoma is a rare but distinct soft tissue neoplasm, most commonly occurring in para-articular regions of the extremities of young adults and also occurring in the head and neck region. To the best of our knowledge, only one case of primary synovial sarcoma of the thyroid has been previously reported. Here, we report a 15-yr-old man who had a chief complaint of a palpable neck mass. The neck computed tomography revealed a relatively well-demarcated solid mass in the left thyroid gland. After fine needle aspiration cytology, total thyroidectomy and lymph node dissection were performed. Grossly, the mass was covered by the same capsule as the thyroid gland, measuring 6X5X5 cm in dimensions and weighing 78 gm. The cut surface showed a well demarcated, lobulated, grayish tan, and rubbery solid tumor. Histologically, this tumor was a biphasic synovial sarcoma. Immunohistochemical, ultrastructural, genetic studies, and cytologic findings were all consistent with synovial sarcoma. When synovial sarcomas arise in this unusual site, recognition and differential diagnosis become more difficult. The differential diagnosis of a spindle epithelial tumor with thymus-like differentiation is very difficult due to their similar clinical, histological, and immunohistochemical features. Ultrastructural and cytogenetic studies for synovial sarcoma are necessary to establish a definitive diagnosis.

Sarcoma sinovial anorretal: relato de caso / Anorectal sinovial sarcoma: report the case

Os sarcomas são neoplasias que se originam das células mesenquimais primitivas, sendo raros na região anorretal. O objetivo é relatar um caso de sarcoma sinovial anorretal, neoplasia extremamente rara nesta localização. É descrito o caso de uma paciente de 77 anos que apresentava nodulação anal dolorosa e sangrante às evacuações, associada a puxo, tenesmo e perda ponderal. A lesão foi biopsiada e o estudo imunohistoquímico evidenciou sarcoma sinovial anorretal. A paciente foi submetida a amputação abdomino-perineal do reto, encontra-se assintomática, sem sinais de recidiva e em seguimento ambulatorial.

Sarcoma sinovial de cabeza y cuello: reporte de un caso / Synovial sarcoma of the head and neck: case report

El sarcoma sinovial es un tumor mesenquimático de tejidos blandos que se encuentra raramente ubicado en la región de cabeza y cuello. Estos tumores se presentan predominantemente en pacientes adultos jóvenes de sexo masculino, ubicándose generalmente en el espacio parafaríngeo. Reportamos el caso de un paciente con sarcoma sinovial bifásico de alto grado de la pared posterior de la faringe, al que se efectuó una resección en dos etapas, seguidas de radioterapia post operatoria.

Synovial sarcoma is a mesenchymal soft-tissue tumor rarely found in the head and neck region. These tumors occur most commonly in young-adult male patients and generally localize in the parapharyngeal space. We report the case of a patient with a high grade biphasic synovial sarcoma of the posterior wall of the pharynx, to whom a two-stages resection was effected, following by post surgical radiotherapy sessions.

A Case of Renal Synovial Sarcoma: Complete Remission was Induced by Chemotherapy with Doxorubicin and Ifosfamide

We experienced a case of primary renal synovial sarcoma in a 32 year-old woman. On admission, she complained of intermittent abdominal pain. On radiologic examination, a 12 X 10 cm-sized soft tissue mass was detected on the left kidney. The tumor had histologic and immunophenotypic features that were consistent with spindle cell type monophasic synovial sarcoma. Four months after complete resection of the tumor, a unilateral hematogenous metastasis developed in the lung. She was treated with combined chemotherapy of doxorubicin and ifosfamide every four weeks, and complete remission was achieved. We herein describe the case with a brief review.