[Translocated sinonasal tumors]. / Tumeurs nasosinusiennes à translocation.

In recent years, several nasal cavity and sinus entities have been described with fusion genes. Salivary gland tumors with fusion genes will not be discussed in this article, but it should be kept in mind that accessory salivary glands are present in the nasal cavity and sinuses and can therefore lead to tumoral lesions. Entities with specific or more frequently described rearrangements in the nasal cavities and sinuses are DEK::AFF2 squamous cell carcinomas,;non-intestinal and non-salivary nasosinusal adenocarcinomas, some of which displaying ETV6 gene rearrangements; biphenotypic nasosinusal sarcomas, most of which displaying PAX3 gene rearrangements; and Ewing's adamantinoma-like sarcomas, which display the same rearrangements as conventional Ewing's sarcomas, mainly the EWSR1::FLI1 rearrangement. Each entity will be described morphologically, immunohistochemically, and prognostically.

[Renal synovialosarcoma: What about pyelic cytology to make a diagnosis?] / Synovialosarcome primitif du rein : si tout était déjà dans les urines pyéliques ?

Synovialosarcoma is a malignant mesenchymal tumor of young adults that occurs in the deep soft tissues, particularly around large joints. When it occurs in more unusual sites, it could present a significant diagnostic challenge. In this case, a 19-year-old girl was treated for a pyloric mass. A pyelic urine cytology performed simultaneously with a pyloric biopsy proved to be a significant element of orientation and perfectly concordant with the histopathological aspect of the pyelic mass after nephrectomy. We report here the first case of renal synovialosarcoma documented in pyelic urine.

Novel role of fluorescent in situ hybridization technique (FISH) in recommended surgical margins of dermatofibrosarcoma protuberans: A preliminary study.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare skin tumor. There is no standard recommendation for its surgical management. The currently used histological analysis are HES (hematoxylin eosin saffron) staining and immunohistochemistry for CD34 expression in particular cases. Fluorescent in situ hybridization (FISH) technique is only used to qualify the DFSP as translocated or non-translocated and is not used as a diagnostic method. The aim of our study was to determine by FISH (as a diagnostic method) whether cancerous cells that could not be identified through HES staining±immunohistochemistry were present at the two-centimeter margins that were found to be tumor-free. METHODS: Samples from patients who underwent surgery between 2010 and 2018 were collected. Intralesional and peripheral (at 2cm margins) paraffin slides were included. An average of 7.4 slides per specimen was analyzed. Firstly, the preselected slides were reread by a senior pathologist to confirm the absence of microscopic findings of DFSP at 2cm margins. Secondly a FISH analysis was used as a quantitative diagnostic approach, in order to find the t(17;22) translocation. RESULTS: Among the seven specimens that included 2cm margins, two samples presented one or more translocations, which were not visible in standard morphology assessments at two centimeters tumor-free margins. CONCLUSIONS: FISH analysis can have a new role in defining tumor-free margins. This would reduce the incidence of disease recurrence after resection and improve the post-operative complementary care.

[Rectal leiomyosarcoma, a rare malignant tumor diagnosed in ulcerative colitis]. / Le léiomyosarcome rectal, une tumeur maligne rare diagnostiquée au cours de la rectocolite ulcéro-hémorragique.

Patients with chronic inflammatory diseases (IBD) of the digestive tract are known to have an increased risk of colorectal cancer. These are usually adenocarcinomas, and the occurrence of malignant mesenchymal tumours, particularly leiomyosarcomas, is exceptional. We report one case in a 40-year-old woman, followed for 9 years for ulcerative colitis. The tumour measured 2cm in length and infiltrated the entire rectal wall as far as the subserosa. It was composed of fusiform cells, with 5 mitoses for 10 fields at ×400 magnification, and expressing actin, desmin and caldesmone under immunohistochemical study. We review the 2 cases of leiomyosarcomas associated with Crohn's disease and 3 cases developed during ulcerative colitis published in the literature.

Intraoperative motive for incomplete resection in primary retroperitoneal sarcoma.

INTRODUCTION: Surgical resection is the current standard of care for retroperitoneal sarcoma (RPS). Recent data suggests that up to 5% of patient have incomplete (R2) resection. The exact reason why patients scheduled for surgery with a curative intent to treat ended up with an R2 resection is largely unknown. AIM OF THE STUDY: To identify intraoperative findings responsible for incomplete (R2) resection in primary RPS. METHODS: All records of consecutive patients scheduled for a non-metastatic primary RPS surgery between 1995 and 2020 in a tertiary care sarcoma centre were retrospective analyzed. RESULTS: Among the 347 patients scheduled for surgery, 13 (3.7%) had an incomplete (R2) resection. The reasons for incomplete surgery were intraoperative finding of vascular involvement of great vessels in 5 patients, previously undetected peritoneal metastases in 5 patients, invasion of contralateral kidney/ureter in 2 patients and the need to preserve both kidneys in 1 patient because of his past medical history. Among these patients, 3 had a laparotomy without resection and 10 had a partial resection (i.e. debulking surgery). Severe postoperative complications occurred in 5 patients. The median length of stay in hospital was 19days. After a median follow-up of 12months, the median survival of patients after incomplete resection was 18months. The 1-y, 5-y and 8-y overall survival (OS) for these patients were 46%, 14%, and 7%, respectively. CONCLUSION: Incomplete (R2) resection for a primary RPS surgery is rare in specialized sarcoma center. The next steps should be to identify the preoperative criteria that lead to this accurate selection and to define the best practice in front of a peroperative discovery of an unresectable RPS. LEVEL OF EVIDENCE: III.

[Fusion-related round and spindle cell sarcomas of the bone (beyond Ewing)]. / Les sarcomes osseux monotones à cellules rondes/fusiformes avec translocations (hors Ewing).

Round cell sarcomas represent a diagnostic challenge for pathologists due to the poorly differentiated pattern of these high-grade tumors. Their diagnosis often requires large immunohistochemical panels and the use of molecular pathology. These tumors are largely dominated by Ewing sarcomas, but new families are now well characterized, including in decreasing frequency order in bone, BCOR-altered sarcomas, NFATc2-rearranged sarcomas, mesenchymal chondrosarcomas and more rarely CIC-rearranged sarcomas and myoepithelial tumors. This progress report presents microscopic, immunohistochemical and molecular features of these tumors previously named by the inappropriate term "Ewing-like" sarcomas, in order to enable any pathologist to perceive the morphological features of these sarcomas, to select the immunohistochemical panel that will lead to the diagnosis and to better guide the molecular approach needed to establish the final diagnosis.

[Deep inferior epigastric pedicle for microsurgical free flap transfer for contralateral thigh root coverage]. / Utilité du pédicule épigastrique inférieur profond pour le branchement microchirurgical de lambeau libre pour la couverture de la racine de la cuisse controlatéral.

Thigh loss cover after carcinologic resection of sarcomas can be complex and compromise the vascular tree of the lower limb. We report a case of a patient with recurrent sarcoma of the right thigh. After multiple resections, the femur and hip joint are exposed. The superficial and deep femoral vessels are taken in the excisional piece. The reconstruction is performed by a free musculocutaneous latissimus dorsi flap, anastomosed to the deep inferior controlateral epigastric vessels. The deep inferior epigastric vessels are of sufficient length to join the contralateral hemiabdomen after dissection with a gauge allowing microsurgical anastomoses. They can serve as recipient vessels for a flap covering the contralateral thigh.

EWSR1-PATZ1 fusion sarcoma - A new case report and review of the literature / Sarcome avec transcrit de fusion EWSR1-PATZ1 - Une nouvelle observation avec revue de la littérature.

Sarcoma with EWSR1-PATZ1 gene fusion is an exceedingly rare and newly described Ewing-like sarcoma harboring EWSR1 rearrangements involving fusion partners other than ETS family genes. The clinical, histopathologic and immunophenotypic features of cases reported in literature are fairly diverse and not specific. We report a new case report posing real challenges for histological and molecular diagnosis.

[Pathology of primary cardiac tumors]. / Pathologie des tumeurs primitives du cœur.

Primary heart neoplasms are rare and poorly known by general pathologists. However, they are not exceptionally encountered in pathology laboratories having a recruitment of cardiac surgery specimens. About 80 % of them are benign tumors and 20 % are malignant tumors. Some tumors are specific to the heart or have characteristics when they grow in the heart, including myxoma and papillary fibroelastoma. The classification currently in use is the 4th edition of the WHO classification of heart tumors published in 2015, which takes into account the evolution of knowledge in the field of sarcomas, but which does not yet recognize cardiac intimal sarcoma. recently individualized in its intracardiac location.

[Malignant Triton tumour: A case report]. / Tumeur Triton maligne : à propos d'un cas.

Malignant Triton tumour (MTT) is a subtype of malignant peripheral nerve sheaths tumour (MPNST) with exclusive heterologous rhabdomyosarcomatous contingent. MTT is rare and of poor prognosis. This entity illustrates the great heterogeneity of MPNST, the diagnosis of which is difficult in the absence of a specific marker, especially in sporadic forms. Although MTT preferentially develop in patients with type 1 neurofibromatosis, sporadic cases may occur. We herein present a case of MTT of the left arm, occurring in a 74-year-old patient, without clinical context of NF1. The fast-growing tumour reached 9.2cm of greater dimension at the time of surgical excision. Histology showed a spindle cell sarcoma with rhabdoid cell areas expressing myogenin. In the absence of neural crest markers expression, the diagnosis of MPNST was based on a significant loss of expression of the histone 3 tri-methylated lysine 27, a classical although not specific epigenetic mark for this sarcoma group, and on the identification of the heterologous rhabdomyosarcomatous contingent, previously described in the context of MTT.

Radiation-induced bullous pemphigoid after surgery for soft tissue sarcoma: About a rare case.

INTRODUCTION: Radiation therapy may cause a range of side effects of the skin within the irradiated area. Not of all the reactive effects of the skin induced by radiation therapy have to be related to some forms of radiodermatitis, and when non-standard clinical presentations overcome, it may be necessary to undertake appropriate diagnostic tools to not be in trap of wrong diagnosis. CLINICAL CASE DESCRIPTION: A 76 years-old man undertook resection surgery after a neoadjuvant radiation therapy for a soft tissue sarcoma of his groin region. After surgery, he developed an acute skin reaction comparable with a severe form of radiodermatitis. Despite cares, his clinical status got worse. Only skin biopsies guided us to the right diagnosis: it was a form of a bullous pemphigoid induced by radiation therapy. The consequent appropriate treatment was finally resolute. CONCLUSION: These forms have to be recognized in time, to undertake skin biopsies as soon as an evocative clinical presentation appears. The appropriate treatment, which consists in local or systemic corticotherapy, is resolute in most cases.

[Spontaneous remission of cutaneous myeloid sarcoma]. / Régression spontanée d'un sarcome myéloïde cutané.

INTRODUCTION: Cutaneous myeloid sarcoma is a rare extramedullary tumour of immature myeloid cells. It is most often associated with acute myeloid leukaemia, and more rarely with myelodysplastic/myeloproliferative disease. PATIENTS AND METHODS: Herein we report a case of cutaneous myeloid sarcoma associated with myelodysplastic/myeloproliferative disease in an 84-year-old man with a diffuse purple papular and nodular rash. The disease course was marked by a spontaneous and total regression for two months. Given the patient's age and general condition, chemotherapy could not be given. DISCUSSION: Cutaneous myeloid sarcoma is rare. It is often associated with acute myeloid leukaemia, and more rarely with myelodysplastic/myeloproliferative disease, but it can occur in isolation. Diagnosis is particularly difficult and is based a consistent body of clinical and histological evidence. Spontaneous regression is very rare and involves immunological mechanisms that are still incompletely understood. Recurrence occurs within a variable time frame and is often associated with transformation to acute myeloid leukaemia if this was not already present at the time of diagnosis. CONCLUSION: Herein we report an extremely rare case of spontaneous regression of cutaneous myeloid sarcoma associated with myelodysplastic/myeloproliferative disease.

The role of reconstructive surgery after soft tissue sarcoma resection.

Soft tissue sarcomas are rare malignant tumors with pejorative prognosis. They require a multidisciplinary approach in a specialized hospital belonging to the NetSarc network in France. In all cases treated with curative intent, the objective of excision surgery is to achieve wide, microscopically negative margins (R0 according to the UICC classification). When growing on a limb, sarcomas may threaten functionally relevant structures and even lead to amputation. Nowadays, when combined with radiation therapy, wide exeresis limb-sparing surgery is achievable in 90 to 95% of the cases, of which 25% will nevertheless require reconstructive surgery to preserve the limb, to limit postoperative complications and to manage possible sequelae. Progress in reparative surgery, particularly in microsurgery, has helped not only to improve limb salvage rates but also to create wider margins without altering oncologic goals of curative resection. After determining the range of resection, reconstructive surgery should be tailored to address the tissue defect. The converse is to be strongly discouraged. The extent of resection must not be compromised or reduced in order to facilitate reconstructive surgery. A plastic surgeon must master all the flap techniques, including microsurgery, while taking into account the impact of preoperative and postoperative radiation therapy on previously irradiated tissues or on wounds requiring adjuvant therapy. Recent developments, especially as regards perforator flaps, have helped to enhanced the quality of reconstruction procedure while reducing donor site morbidity. In our experience, perforator flaps are a workhorse in reconstructive surgeries subsequent to soft tissue sarcoma of the extremities. On a parallel track, lipofilling (otherwise known as fat grafting or fat transfer) has become the first-line treatment for patients with post-surgical functional or cosmetic sequalae. It is performed after long-term follow-up during disease-free survival. Strict clinical examination and MRI are mandatory prior to programming any local procedure. Usually, three to four sessions of fat grafting are needed to enhance local trophicity or the cosmetic aspect. Sequalae treatments are of great interest in terms of psychological as well as functional outcome.

[French ccAFU guidelines - update 2020-2022: retroperitoneal sarcoma]. / Recommandations françaises du Comité de cancérologie de l'AFU - actualisation 2020-2022 : sarcomes rétropéritonéaux.

OBJECTIVE: - To update French urological guidelines on retroperitoneal sarcoma. MATERIALS AND METHODS: - Comprehensive Medline search between 2018 and 2020 upon diagnosis, treatment and follow-up of retroperitoneal sarcoma. Level of evidence was evaluated. RESULTS: - Chest, abdomen and pelvis CT is mandatory to evaluate any suspected retroperitoneal sarcoma. MRI sometimes helps surgical planning. Before histological confirmation through biopsy, the patient must be registered in the French sarcoma pathology reference network. The biopsy standard should be an extraperitoneal coaxial percutaneous sampling before any retroperitoneal mass therapeutic decision. Surgery is retroperitoneal sarcoma cornerstone. The main objective is grossly negative margins and can be technically challenging. Multimodal treatment risks and benefits must be discussed in multidisciplinary teams. The relapse rate is related to tumor grade and surgical margins. Reported Negative margins rate thus encourage surgery in high-volume centers. CONCLUSION: - Retroperitoneal sarcoma prognosis is poor and closely related to the quality of initial management. Centralization through dedicated sarcoma pathology network in a high-volume center is mandatory.

Simultaneous combined anterior and posterior approach for en bloc resection of sciatic notch sarcomas.

BACKGROUND: Monobloc resection of soft tissue sarcomas (STSs) has a major impact on overall survival and local recurrence. Anatomical boundaries, such as the sciatic notch, increase the risk of fragmentation of the lesion. To date there are few papers describing the optimal surgical technique to remove such STSs. The objective of this study is to describe a simultaneous anterior and posterior approach for resection of sciatic notch dumbbell tumours. CASE PRESENTATION: We present the surgical management of two patients diagnosed with well-differentiated liposarcomas of the sciatic notch with a retroperitoneal and gluteal extension in the two cases. Pre-operative diagnosis was made with a percutaneous biopsy including molecular analysis which demonstrated MDM2 amplification. We describe a simultaneous anterior and posterior approach, including the ligation of the posterior trunk of the internal iliac artery, to reduce intra-operative blood loss and devascularise the tumour. The anterior approach allows the evaluation of the tumour's retroperitoneal extension, release from its pelvic attachments and control of the surrounding neurovascular structures. During the posterior approach, bleeding is reduced by the devascularisation of the gluteal musculature achieved with internal iliac artery ligation. Clear margins were achieved in both cases. No vascular, skeletal or soft tissue reconstructions were required. CONCLUSIONS: Simultaneous combined anterior and posterior approaches to remove a malignant sciatic notch tumour optimises the chance of complete en bloc resection. This surgical strategy allows oncologic en bloc resection with minimal blood loss.

[Diagnostic challenge of biphenotypic sinonasal sarcoma]. / Défi diagnostique du sarcome nasosinusien biphénotypique.

Sinonasal biphenotypic sarcoma has recently been described and included in the 2017 WHO classification. It is a low-grade sarcoma which is characterized by PAX3 rearrangements. It remains a diagnostic challenge because of its scarcity, and its considerable histologic overlap with other cellular spindle cell neoplasms. The histologic features, the immunoprofile and the main differential diagnoses of sinonasal biphenotypic sarcoma are presented through a case.

[Cardiac intimal sarcoma: A case report of a rare tumor with peculiar histopathological findings]. / Le sarcome intimal cardiaque : tumeur rare illustrée par un cas de présentation histopathologique inhabituelle.

Primary cardiac sarcomas are rare tumors with poor prognosis. Intimal sarcoma, a mesenchymal malignant tumor described mainly in the great vessels, may rarely involve the heart. Herein we describe the case of a 70-years-old female who was found to have a left atrial mass during an investigation of a new onset dyspnea. The patient underwent surgery and the resected mass was found to be an intimal sarcoma. The objectives of this report were to describe a case of this rare disease entity and to discuss its pathological and molecular findings based on relevant literature.

[Clear cell sarcoma or gastrointestinal neuroectodermal tumor (GNET) of the tongue? Case report and review of the literature of an extremely rare tumor localization]. / Sarcome à cellules claires ou tumeur neuroectodermique gastro-intestinale de la langue ? Une observation avec revue de la littérature dans une localisation exceptionnelle.

Clear cells sarcomas (CCS) are exceptionally rare in the tongue, with, to our knowledge, only three previous reports in anglo-saxon literature. Through our case, we will discuss the differential diagnosis of clear cells tumors of the tongue and bring this tumour closer to the newly described entity of the gastrointestinal tract named "clear cells sarcoma-like gastrointestinal (SCCLGI)", recently renamed "gastrointestinal neuroectodermal tumour (GNET)". SCCLGI/GNET share morphological and molecular characteristics with SCC but had until then been observed only in the digestive tract. Our case could be a lingual localization of a SCCLGI/GNET. SCC and SCCLGI/GNET characteristic molecular profil involves EWSR1-ATF1 [t(12; 22) (q13; q12)] and EWSR1-CREB1 [t(2; 22) (q34; q12)] fusion genes, but it is not specific of these tumours.

[Pathological and molecular features of malignancies underlined by BAF complexes inactivation]. / Aspects morphologiques et moléculaires des tumeurs malignes associées à une dérégulation des complexes BAF.

BAF complexes are chromatin remodelling complexes made up of 15 subunits which overview transcription regulation. A subset of their subunits are notoriously linked to cancer, with the examples of SMARCB1, SMARCA4, ARID1A/1B and PBRM1. The complexes act as tumor suppressor genes, commonly mutated in a wide array of malignancies with an overrepresentation of sarcomas and tumors of the central nervous system. The recurrent inactivation of their genes points towards their driving role in the tumorigenesis of SMARCB1 in malignant rhabdoid tumors and SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type. These tumors are morphologically similar composed of solid sheets of cells displaying vesicular nuclei dotted with clear chromatin and conspicuous nucleoli. Genomically, they share simple diploid profiles with no other alterations than in the culprit gene. Other mesenchymal tumors, distinct from malignant rhabdoid tumors are associated with BAF alterations, namely epithelioid sarcomas, SMARCA4-deficient thoracic sarcomas. BAF subunits are mostly inactivated through mutations or deletions but also occur through translocations in medullary carcinoma of the kidney and synovial sarcomas. Apart from tumors displaying recurrent alterations of the complexes, some variants or tumor variants display BAF alterations, including epithelioid malignant peripheral nerve sheet tumors and poorly differentiated chordomas. Lastly, some malignancies display low frequency of BAF alterations, in keeping with their passenger role in tumorigenesis with the example of dedifferentiated carcinomas, especially in colon, lung and uterus. BAF complexes alterations correlate with morphological features recognizable by microscopy, paving the way for their routine diagnosis and potential therapeutic prospects.

[Primary histiocytic sarcoma of the aortic valve as a trigger of heart failure in a crossbreed dog]. / Primäres histiozytäres Sarkom der Aortenklappe als Auslöser von Herz­versagen bei einem Mischlingshund.

INTRODUCTION: A case of a histiocytic sarcoma at the aortic valve with multiple metastases in the ventricular myocardium, ventricular endocardium and mitral valves in a male crossbreed dog is described. Neoplasia resulted in intermittent forward heart failure, thrombosis, myocardial infarction, and ventricular tachycardia.

INTRODUCTION: On décrit le cas, chez un chien croisé, d'un sarcome histiocytaire de la valvule aortique avec de multiples métastases dans le myocarde ventriculaire, l'endocarde ventriculaire et la valvule mitrale. Le néoplasie conduisait à une faiblesse, à des thromboses et des infarctus du myocarde ainsi qu'à une tachycardie ventriculaire.