Mazabraud Syndrome Associated with McCune-Albright Syndrome: A Case Report and Literature Review.

The Mazabraud syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. The McCune-Albright syndrome is characterized by the association of dysplasia fibrous bone to one or more extra-osseous manifestations, including café-au-lait skin spots and endocrine disturbances. Here, we report on a new case of a 52-year-old man with sacroiliac polyostotic bone fibrous dysplasia associated with intramuscular myxomas of the left buttock and thigh and a café-au-lait skin spot. Biopsy analysis of one muscular lesion on the left thigh analysis revealed a spindle cell tumor with myxoid stroma with GNAS gene mutation, confirming the diagnosis of intramuscular myxoma. Given the absence of radiological sign of malignancy at the bone level and a few pains relieved by simple analgesics, no specific treatment was applied. In March 2022, after 18 months of follow-up, the magnetic resonance imaging and the PET-CT scan showed a stable disease. To our knowledge, this case is the fourth one reporting association of Mazabraud syndrome and McCune-Albright syndrome in a man. The association of intramuscular tumors and bone tumors in the same anatomical region and without any continuity, especially in lower limbs, must evoke the diagnosis of Mazabraud syndrome.

Celiac Disease After Administration of Immune Checkpoint Inhibitors: A Case Report.

Immune checkpoint inhibitors (ICI) reinvigorate the immune system to recognize and destroy tumor cells. Because of this biological mechanism, patients might develop autoimmune toxicities, notably in the digestive tract (most frequently, hepatitis or colitis). A 70-year-old man with relapsed mesothelioma was treated with nivolumab in 3rd line. He was hospitalized for watery and foul-smelling diarrhea. He underwent gastrointestinal endoscopy, showing duodenitis and villous atrophy and measurement of serum IgA antibodies to tissue transglutaminase (tTG-IgA+), leading to the diagnosis of ICI-induced celiac disease. He was treated with steroids, proton pump inhibitors, and a gluten-free diet. If ICI-induced celiac disease is rare in the literature, increasing reports suggest that celiac disease might represent an underestimated ICI toxicity. This case highlights the necessity of complementary investigation (including tTG-IgA and endoscopic biopsies) in patients with atypical digestive symptoms during immunotherapy.

Successful Imatinib Treatment of an Abdominal Compartment Syndrome due to Huge Gastrointestinal Stromal Tumour.

Gastrointestinal stromal tumours (GISTs) are the most common digestive mesenchymal tumours, whose prognosis has been revolutionised by targeted therapies such as oral imatinib. Abdomen compartment syndrome (ACS) is associated with mortality superior to 50% in adults. ACS has never been reported to date in patients with GIST. Specific anticancer treatment in critically ill patients in intensive care unit (ICU) remains a matter of debate given the high mortality rate. Here, we report the case of a 58-year-old woman with ACS related to a 40-cm huge GIST and multi-organ failure requiring mechanical ventilation, vasopressive support and haemodialysis. She was treated in emergency with imatinib via the naso-gastric tube (day 1), then at day 3 by decompressive laparotomy and "open abdomen" without any tumour removal. Imaging after 11 days imatinib showed objective tumour response. Because of improvement of multi-organ dysfunctions, the laparotomy was closed at day 14, and the resuscitation procedures were progressively stopped. After discharge from hospital, she survived nearly two years. This is the first case of successful treatment of cancer-associated ACS by targeted therapy and decompressive laparotomy. Imatinib in critically ill patients with GIST may be successful even in presence of multi-organ failure.

PARP1 expression in soft tissue sarcomas is a poor-prognosis factor and a new potential therapeutic target.

Soft tissue sarcomas (STSs) are aggressive tumors with few efficient systemic therapies. Poly(ADP-ribose) polymerase-1 (PARP1) inhibitors represent an emerging therapeutic option in tumors with genomic instability. The genomics of STSs is complex in more than half of cases, suggesting a high level of inherent DNA damage and genomic instability. Thus, STSs could be efficiently targeted with PARP inhibitors. Promising preclinical results have been reported, but few data are available regarding PARP1 expression in clinical samples. We examined PARP1 mRNA expression in 1464 clinical samples of STS, including 1432 primary tumors and 32 relapses, and searched for correlations with clinicopathological features, including metastasis-free survival (MFS). Expression was heterogeneous across the samples, not different between primary and secondary tumors, and was correlated to PARP1 DNA copy number. In the 1432 primary tumors, the 'PARP1-high' samples were associated with younger patients, more frequent locations at the extremities, superficial trunk and head and neck, more leiomyosarcomas and other STSs and less liposarcomas and myxofibrosarcomas, more grade 3, more high-risk CINSARC tumors, and more 'chromosomically instable' tumors. They were associated with shorter MFS, independently of other significant prognostic features, including the CINSARC signature. We found a strong involvement of genes overexpressed in the 'PARP1-high' samples in cell cycle, DNA replication, and DNA repair. PARP1 expression refines the prediction of MFS in STSs, and similar expression exists in secondary and primary tumors, supporting the development of PARP1 inhibitors.

Giant Pedunculated Hepatic Hemangioma: A Case Report and Literature Review.

Hepatic hemangioma is the most common benign hepatic tumor, and most of them are small in size and asymptomatic. Giant hepatic hemangiomas are uncommon, but pedunculated giant hemangiomas are even rarer and often difficult to diagnose because of their exophytic development. We report here on a 48-year-old man with a symptomatic pedunculated giant hepatic hemangioma and hepatic angiomatosis, mimicking a gastric gastrointestinal stromal tumor with liver metastases. The preoperative diagnosis was suspected on imaging including CT scan and MRI. The patient was successfully operated (left hepatic lobectomy), without any complication, and the pathological analysis confirmed the diagnosis. We reviewed the English literature, and to our knowledge, our case represents the largest case reported so far when compared with the 19 other informative cases.

Reversible rituximab-induced rectal Kaposi's sarcoma misdiagnosed as ulcerative colitis in a patient with HIV-negative follicular lymphoma.

BACKGROUND: Kaposi's sarcoma is a low-grade mesenchymal angioproliferative tumor, most commonly observed in immunocompromised individuals, such as HIV-infected patients. Iatrogenic Kaposi's sarcoma occurs in patients undergoing immunosuppressive therapies. Rituximab is a chimeric monoclonal antibody targeted against the pan B cell marker CD20. Because of its immunosuppressive effects through reduction of mature B-cells, it may exacerbate Kaposi's sarcoma in HIV-positive patients. Rituximab-related Kaposi's sarcomas have been previously reported in only two HIV-negative patients and were treated surgically. CASE PRESENTATION: Here, we report on a Kaposi's sarcoma that developed under rituximab treatment in a HIV-negative 55-year-old patient treated for follicular lymphoma. The lesion developed during the maintenance rituximab therapy at the rectal level with an aspect of apparent ulcerative colitis, without any cutaneous lesion. The premature stop of rituximab led to the complete regression of Kaposi's sarcoma, without any additional specific treatment. CONCLUSIONS: To our knowledge, this is the third case of Kaposi's sarcoma diagnosed under rituximab in a HIV-negative patient, the first one at the rectal level and the first one that completely regresses after stop of rituximab. This case raises awareness of iatrogenic Kaposi's sarcoma in HIV-negative patients treated with rituximab, and further highlights the importance of immunosuppression in the pathophysiology of disease.

Metastatic Intimal Sarcoma of the Pulmonary Artery Sensitive to Carboplatin-Vinorelbine Chemotherapy: Case Report and Literature Review.

Pulmonary artery intimal sarcoma (PAIS) is a very rare tumour with a very poor prognosis. In advanced stages, chemotherapy and radiotherapy are poorly efficient, and no standard chemotherapy guideline is currently available. Here, we report on a 37-year-old woman with PAIS initially treated with surgical resection who developed metastatic relapse refractory to anthracycline-based chemotherapy, then trabectedin, then pazopanib. The patient was then given carboplatin-vinorelbine chemotherapy. The treatment was well tolerated, and, rapidly, a CT scan showed an objective response that lasted 8 months despite the 4th therapeutic line. We review the literature and show that our case is the second one that provides evidence of the efficacy of platinum-vinorelbine regimens in this aggressive tumour.

PDL1 expression is a poor-prognosis factor in soft-tissue sarcomas.

Soft-tissue sarcomas (STS) are a group of rare, heterogeneous, and aggressive tumors, with high metastatic risk and relatively few efficient systemic therapies. In the quest for new treatments, the immune system represents an attractive therapeutic target. Recently, PD1/PDL1 inhibitors showed very promising results in patients with solid tumors. PDL1 expression has been rarely studied in STS, in small series only, by using immunohistochemistry (IHC), and with non-concordant prognostic implications. Here, we have analyzed PDL1 mRNA expression in 758 clinical STS samples retrospectively profiled using DNA microarrays and RNAseq, and searched for correlations with clinicopathological variables including metastasis-free survival (MFS) after surgery. PDL1 expression was heterogeneous across the samples. PDL1-high samples (41%) were more frequently leiomyosarcomas and liposarcomas, and showed more frequently a complex genetic profile and a high-risk CINSARC signature. No correlation existed with other clinicopathological features such as tumor site, depth, and pathological tumor grade and size. In multivariate prognostic analysis, the PDL1-high class was associated with shorter MFS, independently of the pathological type and the CINSARC signature. Analysis of correlations with biological factors suggested the existence in tumors of the PDL1-high class of a strong and efficient cytotoxic T-cell response, however associated with some degree of T-cell exhaustion and negative regulation. In conclusion, we show that PDL1 expression refines the prediction of metastatic relapse in operated localized STS, and that PD1/PDL1 blockade holds potential to improve patient survival by reactivating inhibited T cells to increase the antitumor immune in PDL1-high tumors.

A scoring system to guide the decision for a new systemic treatment after at least two lines of palliative chemotherapy for metastatic cancers: a prospective study.

PURPOSE: A four-parameter score has been identified as associated with overall survival (OS) in patients with advanced cancer with an estimated survival inferior to 6 months. Here, we tested its prognostic value for OS in patients who had received more than two lines of systemic therapy. METHODS: We prospectively enrolled patients with advanced cancer who were going to receive a third or more therapeutic line outside classical clinical guidelines. The four parameters (Eastern Cooperative Oncology Group performance status, number of metastatic sites, serum LDH, and serum albumin) were collected at baseline, allowing to calculate the score, which sorted the patients in three groups, A, B, and C (low, intermediate, and high score, respectively). We then searched for correlations between this grouping and clinicopathological features particularly OS. RESULTS: From August 2013 to March 2014, 65 patients were enrolled and corresponded after determining their score to 26 patients in group A, 30 in B, and 9 in C. The median OS of the cohort was 4.4 months, and the 6-month OS was 42%. Overall survival was different between the three groups, with respective 6-month OS equal to 80% in group A, 17% in group B, and 0% in group C and respective median OS of 9, 2.3, and 1.6 months. Such prognostic value persisted in multivariate analysis. Similar OS differences were observed in patients with PS ≤2. CONCLUSION: This simple scoring should help oncologists identify which patients, after at least two lines of systemic therapy, might benefit from best supportive care alone.

Gastrointestinal Stromal Tumour with Synchronous Bone Metastases: A Case Report and Literature Review.

Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours of the digestive tract, derived from Cajal interstitial cells. Bone metastases are very rare, and there is no consensus regarding their treatment. Here, we present the unusual case of a 66-year-old man with a gastric GIST with synchronous bone and liver metastases, fully documented at the pathological and molecular levels with a KIT exon 11 mutation. After 9 months of imatinib, the scanner showed a 33% partial response of target lesions. We also review the literature and describe the characteristics, treatment, and outcome of all cases previously reported.

High-grade soft tissue sarcoma arising in a desmoid tumor: case report and review of the literature.

Desmoid tumors are rare benign monoclonal fibroblastic tumors. Their aggressiveness is local with no potential for metastasis or dedifferentiation. Here we report on a 61-year-old patient who presented a locally advanced breast desmoid tumor diagnosed 20 years after post-operative radiotherapy for breast carcinoma. After 2 years of medical treatment, a high-grade undifferentiated pleomorphic soft tissue sarcoma arose within the desmoid tumor. Despite extensive surgery removing both tumors, the patient showed locoregional relapse by the sarcoma, followed by multimetastatic progression, then death 25 months after the surgery. The arising of a soft tissue sarcoma in a desmoid tumor is an exceptional event since our case is the fourth one reported so far in literature. It reinforces the need for timely and accurate diagnosis when a new mass develops in the region of a preexisting desmoid tumor, and more generally when a desmoid tumor modifies its clinical or radiological aspect.

Primary synovial sarcoma of the thyroid gland: case report and review of the literature.

Synovial sarcoma (SVS) of the thyroid gland is exceedingly rare. We report the case of a 55-year-old man with a rapidly growing 7-cm neck mass. Because of suspicion of anaplastic thyroid carcinoma, a total thyroidectomy was planned, without preoperative cytology. During surgery, the tumor ruptured, leading to fragmented and incomplete resection. The morphological and immunohistochemical aspects suggested thyroid SVS, which was confirmed by fluorescent in situ hybridization (SYT gene rearrangement). The patient experienced immediate local relapse in close contact with large vessels and the thyroid cartilage and was referred to our institution. Doxorubicin-ifosfamide chemotherapy led to a minor response that authorized secondary conservative surgery. Because of microscopically incomplete resection, adjuvant radiotherapy was chosen and is ongoing 10 months after initial surgery. The prognosis of thyroid SVS is associated with a high risk for local and metastatic relapses. Pretreatment diagnosis is fundamental and may benefit from molecular analysis. Margin-free monobloc surgical excision is the best chance for cure, but adjuvant chemotherapy and radiotherapy deserve to be discussed.

Dramatic and delayed response to Doxorubicin-dacarbazine chemotherapy of a giant desmoid tumor: case report and literature review.

Desmoid tumors are benign, slow-growing mesenchymal tumors. Aggressiveness is local with no potential for metastasis or dedifferentiation. The treatment is challenging, particularly in the case of huge intra-abdominal locations. We, herein, report on a 21-year-old patient with a giant intra-abdominal desmoid tumor occupying substantially the entire abdominal cavity. After failure of a first-line combination of celecoxib and tamoxifen, the patient was given doxorubicin-dacarbazine chemotherapy. The treatment was well tolerated, and rapidly, the clinical digestive symptoms improved. After 6 cycles, the computed tomography scan showed a partial response (regression of tumor volume by 55%). During follow-up, the tumor continued to regress: 25 months after the end of chemotherapy, the tumor volume had regressed by 95% when compared to the start of computed tomography and by 90% when compared to the end of chemotherapy. Thirty-three months after the diagnosis, the patient is alive without any symptom. Our case provides further evidence of the remarkable efficacy of a doxorubicin-dacarbazine regimen, especially in function- or life-threatening situations where a rapid response is required. We review the literature and discuss the challenging issue regarding treatment of desmoid tumors.

Solitary fibrous tumor in the round ligament of the liver: a fortunate intraoperative discovery.

Solitary fibrous tumors (SFTs) are mesenchymal neoplasms of fibroblastic origin, most commonly found in the pleura. Numerous extrathoracic locations have been reported during the last 2 decades. Herein, we report the first case of an SFT in the round ligament of the liver. A 46-year-old Caucasian man presented with a 12-month history of abdominal pain. An ultrasonography-guided microbiopsy first revealed a desmoid tumor. After failure of first- and second-line medical treatments (celecoxib and tamoxifen, then imatinib), histological reexamination was suspicious for a low-grade sarcoma. MRI was also suspicious for a malignant process. Hence, surgery was decided. Laparotomy found a huge and well-limited tumor that, unexpectedly, was appended to the round ligament of the liver and free from any other intra-abdominal contact. The tumor was easily removed. Excision was monobloc and macroscopically complete. Histological analysis diagnosed an SFT arising from the round ligament of the liver. No adjuvant treatment was given. Ten months after surgery, the patient is alive without any signs or symptoms of relapse. This is the first report of SFT arising from the round ligament of the liver. It illustrates the difficulty in diagnosing such tumors. Whilst diagnosis of SFT is rare, it should be kept in mind to allow early diagnosis and complete surgical resection, which provide the best chance for recovery.

Solitary fibrous tumor of the prostate: case report and review of the literature.

Solitary fibrous tumor (SFT), usually described in the pleura, is exceedingly rare in the prostate. We report a 60-year-old man with prostatic SFT revealed by obstructive urinary symptoms, and detected by ultrasonography. Computed tomography (CT) and magnetic resonance imaging suggested a prostatic origin. CT-guided tumor biopsy diagnosed a SFT. A cystoprostatectomy was performed. Pathologic examination showed a 15-cm tumor arising from the prostate and showing histological criteria suggestive of aggressiveness. The surgical resection margins were tumor-free. The patient was then regularly monitored and is still alive in complete remission, 28 months after surgery. In conclusion, we report a new exceptional case of prostatic SFT. We review the literature and discuss the challenging issues of misdiagnosis, prognosis and treatment.

Efficacy of epidermal growth factor receptor targeting in advanced chordoma: case report and literature review.

BACKGROUND: Chordomas are very rare low-grade malignant bone tumors that arise from the embryonic rests of the notochord. They are characterized by slow growth and long history with frequent local relapses, and sometimes metastases. While chemotherapy is not efficient, imatinib has shown antitumor activity. CASE PRESENTATION: We report on a 76-year-old patient with EGFR-overexpressing advanced chordoma that progressed on imatinib and subsequently responded to erlotinib during 12 months. CONCLUSIONS: We report the fourth case of advanced chordoma treated with an EGFR inhibitor. We also review the literature concerning the rationale and potential of EGFR targeting in chordoma.