Paraneoplastic Secretion of Multiple Phosphatonins From a Deep Fibrous Histiocytoma Causing Oncogenic Osteomalacia.

CONTEXT: Literature suggests that oncogenic osteomalacia is usually caused by a benign mesenchymal tumor secreting fibroblast growth factor subtype-23 (FGF-23), but the involvement of other phosphatonins has only been scarcely reported. We have previously published a seemingly typical case of oncogenic osteomalacia. Following curative neoplasm resection, we now report unique molecular characteristics and biology of this tumor. CASE DESCRIPTION: A 25-year-old man had been diagnosed with severe oncogenic osteomalacia that gradually crippled him over 6 years. 68Ga-DOTA-TATE positron emission tomography/computed tomography scan localized the culprit tumor to his left sole, which on resection revealed a deep fibrous histiocytoma displaying a proliferation of spindle cells with storiform pattern associated with multinucleated giant cells resembling osteoclasts. Circulating FGF-23, which was elevated more than 2-fold, declined to undetectable levels 24 h after surgery. Microarray analysis revealed increased tumor gene expression of the phosphatonins FGF-23, matrix extracellular phosphoglycoprotein (MEPE) and secreted frizzled-related protein subtype 4, with elevated levels of all 3 proteins confirmed through immunoblot analysis. Differential expression of genes involved in bone formation and bone mineralization were further identified. The patient made an astonishing recovery from being wheelchair bound to fully self-ambulant 2 months postoperatively. CONCLUSION: This report describes oncogenic osteomalacia due to a deep fibrous histiocytoma, which coincidentally has been found to induce profound muscle weakness via the overexpression of 3 phosphatonins, which resolved fully upon radical resection of the tumor. Additionally, genes involved in bone formation and bone remodeling contribute to the molecular signature of oncogenic osteomalacia.

Cystic fibrohistiocytic tumour of the lung presenting with recurrent pneumothoraces: a case report.

Cystic fibrohistiocytic tumour of the lung is a very rare pathological entity that occurs either as a primary pulmonary neoplasm or as a metastasis from skin lesions called cellular fibrous histiocytomas. Herein, we present the case of a 19-year old man with a history of recurrent pneumothoraces who was managed surgically and was eventually diagnosed with cystic fibrohistiocytic tumour of the lung. Clinicians should include this disease in the differential diagnosis of pulmonary cystic lesions and be aware of its association with cellular fibrous histiocytoma. Reporting of more cases is warranted to further elucidate the natural course of the disease and optimise its management.

Retroperitoneal sarcomas: from diagnosis to treatment. Case series and review of the literature.

BACKGROUND: Retroperitoneal sarcoma is a rare malignancy arising from mesenchymal cells, most commonly presented as an abdominal mass and is associated with poor prognosis. The most effective treatment modality for retroperitoneal sarcomas is complete surgical resection, including sometimes adjacent organs infiltrated by the tumor. Radiotherapy is frequently applied and has shown some benefit, while the role of chemotherapy and molecular-targeted agents is still not clear. Local recurrence is common for retroperitoneal sarcomas and still remains the main cause of death. The major factors associated with the overall survival are tumor grade, histological subtype, complete macroscopic excision and multifocality. AIM: To report our experience via the presentation of patients with retroperitoneal sarcomas managed in our department during the period 2014-18; and to review the current literature. PATIENTS AND METHODS: Eight patients appeared with chronic non-specific complaints including abdominal distension and changes in bowel or bladder habit, while one patient presented with acute abdominal pain due to mass rupture. All of the patients underwent surgical resection of the tumor. RESULTS: Among the patients, seven were operated for primary disease and one only for recurrent. The most common histologic type was liposarcoma (well-differentiated, dedifferentiated), found in five patients; followed by leiomyosarcoma found in two cases. Fibrous histiocytoma was found in only one case. The masses were removed with macroscopically clear margins (R0 and R1 resections) in four cases. In five patient cases adjuvant therapy was required. Three patients are still alive and free of disease. CONCLUSIONS: Retroperitoneal sarcomas present to be a therapeutic challenge based on their location, their extent at the time of diagnosis and the high risk of local recurrence or distant metastasis. Their management requires a multidisciplinary approach, with the surgical resection remaining the mainstay of curative treatment, combined with surveillance for early detection of recurrence or metastases.

38-year-old woman with nasal congestion: A rare case of septum-originated benign fibrous histiocytoma.

INTRODUCTION: Benign fibrous histiocytoma (BFH) is a mesenchymal tumor composed of fibroblasts and histiocytes, which normally occurs in the bone tissue and/or the skin of the limbs. BFH of the nasal septum is rare worldwide. PATIENT CONCERNS: A 38-year-old female patient attended our clinic with congestion in her right nasal cavity. DIAGNOSES: Endoscopic examination revealed a mass within the right nasal passage. Immunohistochemical staining demonstrated cells labeled with VIM (+), CD68PGM1 (+), CD34 (-), Actin (-), PCK (-), EMA (-), Desmin (-), SMA (-), S-100 (-), P63 (-), ALK-1 (-), beta-catenia (+), and KI67 (+). Clinical and histopathological examinations showed that the mass was a septum-originated BFH. INTERVENTIONS: For the treatment of BFH of the nasal septum, the mass was removed endoscopically using a transnasal approach. OUTCOMES: No recurrence was observed over 30 months of follow-up. CONCLUSION: To prevent the recurrence wide local resection with histological clear margin and long-term follow-up with an endoscope are necessary.

Unusual Uptake of 131I in a Cutaneous Benign Fibrous Histiocytoma in a Patient With Thyroid Cancer.

A 52-year-old man with papillary thyroid cancer underwent total thyroidectomy and subsequent I remnant ablation. The postablation whole-body radioiodine scanning showed an unexpected focus on the upper right arm. SPECT/CT found that the abnormal focus of radioactivity was from body surface. Histopathology confirmed the diagnosis of benign fibrous histiocytoma.

CD34 + tumours of the orbit including solitary fibrous tumours: a six-case series.

BACKGROUND: To report six cases of CD34+ fibroblastic mesenchymal tumours, which are uncommon neoplasms in the orbit. CASE PRESENTATION: Six patients presenting with proptosis and palpable mass who were later diagnosed with fibrous solitary tumours, fibrous histocytoma or haemangiopericytoma in the orbit were included. All patients received radiologic examinations and surgical excision for histopathology and immunohistochemistry examinations. Five patients had no recurrence after a minimum follow-up of 12 months. One patient (case 6) experienced recurrence twice, and had debulking surgeries each time. At present, the patient still has remnant tumour in the orbit, but no growth has been detected during the past two years. The tumour size will be closely monitored. CONCLUSIONS: Even though fibroblastic tumours are rarely found in the orbit, they can present as a palpable mass with proptosis. Complete surgical excision is important for long-term prognosis, and immunohistochemical study is helpful for confirming pathologic diagnosis.

68Ga-PSMA Uptake by Dermatofibroma in a Patient With Prostate Cancer.

Prostate-specific membrane antigen (PSMA) is a typ. 2 transmembrane protein that is highly expressed in prostate cancer cells. Ga-PSMA PET/CT imaging is a modality used to determine the extent of prostate cancer. Various other neoplasias may also express PSMA, which appears as Ga-PSMA uptake in PET/CT imaging. A 71-year-old man with prostate cancer underwent Ga-PSMA PET/CT imaging for restaging after having an elevated prostate-specific antigen level. Subcutaneous lesions showing focal PSMA uptake were detected, one of which was excised. The histopathologic diagnosis was dermatofibroma.

Asociación lupus eritematoso sistémico y esclerosis tuberosa, un caso / Coincidence of tuberous sclerosis and systemic lupus erythematosus-a case report

La esclerosis tuberosa (ET), también llamada enfermedad de Pringle Bourneville, es una facomatosis con posible afectación dérmica, neurológica, renal y pulmonar. Se caracteriza por el desarrollo de proliferaciones benignas en numerosos órganos, que dan lugar a las diferentes manifestaciones clínicas. Se asocia a la mutación de 2 genes: TSC1 (hamartina) y TSC2 (tuberina), con la alteración funcional del complejo diana de la rapamicina (mTOR). La activación de la señal mTOR ha sido descrita recientemente en el lupus eritematoso sistémico (LES), y su inhibición podría resultar beneficiosa en pacientes con nefritis lúpica. Presentamos el caso de una paciente que 30 años después del inicio de LES con afectación renal grave (glomerulonefritis tipo IV), resuelta con pulsos intravenosos de ciclofosfamida, comenzó con manifestaciones clínicas del complejo esclerosis tuberosa (CET). Consideramos de interés la coexistencia de estas 2 entidades, ya que solo hemos encontrado 2 casos similares en la literatura (AU)

Tuberous sclerosis, also called Bourneville Pringle disease, is a phakomatosis with potential dermal, nerve, kidney and lung damage. It is characterized by the development of benign proliferations in many organs, which result in different clinical manifestations. It is associated with the mutation of two genes: TSC1 (hamartin) and TSC2 (tuberin), with the change in the functionality of the complex target of rapamycin (mTOR). MTOR activation signal has been recently described in systemic lupus erythematosus (SLE) and its inhibition could be beneficial in patients with lupus nephritis. We report the case of a patient who began with clinical manifestations of tuberous sclerosis complex (TSC) 30 years after the onset of SLE with severe renal disease (tipe IV nephritis) who improved after treatment with iv pulses of cyclophosphamide. We found only two similar cases in the literature, and hence considered the coexistence of these two entities of great interest (AU)