Ectomesenchymal Chondromyxoid Tumor of the Anterior Tongue: A Case Image.

Ectomesenchymal chondromyxoid tumor (ECT) is a rare soft tissue tumor with peculiar histogenesis, exhibiting a predilection for the dorsum of the tongue. Molecular evidence suggests that it may originate from the migration of ectomesenchymal pluripotent cells from the neural crest to the tongue, where these cells may eventually proliferate and undergo myxoid and chondroid differentiation. This article illustrates a case of a 16-year-old female patient who presented with a nodule on the dorsum of her tongue, which had been present for four years. Surgical excision was performed, and histopathological analysis revealed a myxoid neoplasia composed of polygonal and spindle cells within a loose stroma containing chondroid areas. Tumor cells were positive for GFAP and S-100 proteins on immunohistochemical study, confirming the diagnosis of ECT. After a 5-year follow-up, the patient has shown no evidence of recurrence. Although rare, ECT can be diagnosed straightforwardly due to its distinctive clinical, histopathological, and immunohistochemical features. Clinicians and pathologists should become familiar with this tumor in order to avoid misdiagnosis.

Malignant Epithelioid Mesenchymal Neoplasm with FUS::CREM Gene Fusion Arising in the Tongue: A Case Report Detailing Clinicopathological, Imaging, and Molecular Features.

FUS::CREM fusion is a distinct primary driver in rare neoplasms of the head and neck and other anatomic sites. Herein, we describe the clinicopathological, imaging, and molecular features of a malignant epithelioid mesenchymal neoplasm harboring FUS::CREM fusion, arising in the tongue of a 46-year-old male. Clinically, the patient presented with a left upper neck mass. Imaging revealed a 4.0 cm mass at the left base of tongue. Histologically, the tumor consisted of sheets of loosely cohesive, small round to ovoid cells with moderate cytoplasm, small nuclei with coarse chromatin, frequent nuclear pseudoinclusions, and dense peripheral lymphoplasmacytic and histiocytic infiltrates. Malignant features, including tumor necrosis, perineural invasion, and increased mitotic activity were observed; however, lymphovascular invasion was absent with no evidence metastatic disease in the examined lymph nodes. A comprehensive panel of immunohistochemical stains showed positivity for synaptophysin and ALK, with negative results for all other markers. RNA-based next-generation sequencing using anchored multiplex polymerase chain reaction (PCR) was performed and detected FUS::CREM fusion gene. The patient was treated by excision and postsurgical chemoradiation with no evidence of recurrence after four months. Additional cases supported by comprehensive clinical data collected over an extended period are necessary to precisely characterize epithelioid mesenchymal neoplasms harboring FUS::CREM fusion in the head and neck.

Fibrocartilaginous Mesenchymoma of the Spine: A Case Report.

CASE: A healthy, 19-year-old woman was incidentally found to have a large, destructive tumor of T11 without neurologic symptoms. Biopsy demonstrated fibrocartilaginous mesenchymoma (FCM). The patient was treated with resection including subtotal corpectomy and T8-L1 fusion with use of cage and allograft strut construct. The patient remained without recurrence over 3 years of follow-up. CONCLUSION: FCM arising from the spine is a rare tumor, of which this is the sixth report. FCM affects primarily young adults and is benign but locally aggressive, requiring complete excision to prevent recurrence.

Intracranial Phosphaturic Mesenchymal Tumors: A Systematic Literature Review of a Rare Entity.

BACKGROUND: Phosphaturic Mesenchymal Tumors (PMTs) are rare mesenchymal neoplasms known for producing Tumor-induced Osteomalacia (TIO). TIO is an uncommon paraneoplastic syndrome characterized by radiographic evidence of inadequate bone mineralization and analytical abnormalites. METHODS: We sought to present a case of TIO caused by skull base PMT with intracranial extension, manifesting with pain, progressive weakness, and multiple bone fractures. Furthermore, a systematic review was performed, following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. A search was conducted in PubMed database with title/abstract keywords "Phosphaturic mesenchymal tumor" and "Osteomalacia." Search results were reviewed looking for intracranial or skull base tumors. RESULTS: Our systematic review included 29 reported cases of intracranial PMT. In the reviewed cases there was a significative female predominance with 22 cases (75,86%). Osteomalacia was presented in 25 cases (86,20%). Bone fractures were present in 10 cases (34,48%). The most common site of involvement was the anterior cranial fossa in 14 cases (48,27%). Surgery was performed in 27 cases (93,10%) with previous tumor embolization in 4 cases (13,79%). Total recovery of the presenting symptoms in the first year was achieved in 21 cases (72,41%). Recurrence of the disease was described in 6 cases (25%). CONCLUSIONS: Skull base PMTs with intracranial extension are extremely rare tumors. Most patients are middle-aged adults with a PMT predominantly located in anterior cranial fossa. Surgery is the current treatment of choice with optimal outcome at 1-year follow-up, although recurrence could be present in almost 25% of the cases.

A 50-Year-Old Man Presenting with Multiple Bone Lesions and a Diagnosis of Phosphaturic Mesenchymal Tumor of the Femur.

BACKGROUND Phosphaturic mesenchymal tumor (PMT) is an extremely rare mesenchymal neoplasm that is commonly seen in bone and soft tissue. It is associated with a paraneoplastic syndrome, oncogenic osteomalacia, due to tumor-induced urinary phosphate wasting. It is demonstrated to be predominantly mediated by fibroblast growth factor 23 (FGF23)/fibroblast growth factor receptor 1 (FGFR1) axis. Clinically, PMT usually presents as a solitary lesion in the bone. The diagnosis of PMT is challenging due to its non-specific clinical manifestation, radiologic findings, and morphological features. CASE REPORT We report the case of a 50-year-old man presenting with multiple lytic bone lesions and associated pathologic fracture of the right femur, clinically suspicious for multiple myeloma or other metastatic malignant process. Resection from the right femur showed a hypercellular lesion composed of oval-to-spindled cells infiltrating the native trabecular bone with admixed multinucleated giant cells. Immunohistochemical (IHC) staining and in situ hybridization (ISH) demonstrated the tumor cells were positive for SATB2, ERG, FGFR1, and FGF23 ISH. DNA and RNA next-generation sequencing showed marked increases in mRNA levels of FGF23 and FGFR1. The constellation of clinicoradiologic, histomorphologic, IHC, and molecular findings supported a diagnosis of primary benign PMT. CONCLUSIONS This case report discusses a patient with PMT presenting with multifocal lesions due to tumor-induced osteomalacia at initial presentation. We hope that this report will increase the awareness of clinician and pathologists of PMT as a differential diagnosis in patients presenting with multifocal lytic bone lesions. In turn, this will prevent misdiagnosis and overtreatment of a typically benign process.

Phosphaturic mesenchymal tumor: Clinicopathological features with outcomes in 10 patients with review of literature.

BACKGROUND: Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal tumors, associated with long-standing, non-specific but often debilitating symptoms in the affected patients. These tumors display characteristic histopathological features and in case, identified timely, can be a boon for patients, given an excision is completely curative. AIMS: To evaluate the clinical and histopathological features of 10 PMTs, diagnosed at our institution, along with clinical outcomes in those patients. MATERIALS AND METHODS: This was a retrospective study, wherein 10 PMTs, diagnosed from January 2013 to July 2022, were included. RESULTS: The average age at the time of diagnosis was 40 years with an M:F ratio of 4:1. Clinical features included lumps, weakness, bone pain, difficulty in moving and walking, and pathologic fractures. The biochemical analysis showed normal serum calcium levels (average = 9.5 mg/dL), with low serum phosphorus (average = 2.2 mg/dL) and raised serum fibroblast growth factor 23 (FGF23) levels, in all the cases, wherever available. On histopathology, all tumors showed cells arranged in a hemangiopericytomatous pattern, including oval to short spindle forms. Multinucleate giant cells were present in nine tumors, and characteristic "grungy calcifications" was observed in eight tumors. Prominent pseudo cystic spaces were seen in eight tumors. A significant number of mitotic figures and tumor necrosis were not seen in any tumor. In five cases where follow-up was available, there was complete resolution of symptoms post-resection with no recurrence or metastasis. All those patients were free of disease until the last follow-up. CONCLUSION: This constitutes the first largest comprehensive study on these rare tumors from our country. PMTs can be diagnosed based on certain histopathological features and correlation with clinicoradiological and biochemical findings. These are invariably benign neoplasms. Patients are relieved of their debilitating symptoms after adequate surgical tumor resection. Therefore, their correct and timely diagnosis is crucial.

Treatment and Diagnose of Spinal Phosphaturic Mesenchymal Tumor: A Case Report and a Systematic Literature Review.

BACKGROUND: Spinal phosphaturic mesenchymal tumor (PMT) is a rare disorder but can be cured once the diagnosis is clear and a complete removal by surgery is performed. To the best of our knowledge, only 22 cases in the spine have been described, and we report a case with the largest number of spinal segments (T12-L5) affected among spine PMT cases. METHODS: A comprehensive literature search was performed until May 23, 2023, following the Preferred Reporting Items for Systematic Reviews guidelines. Studies were chosen through relevant PubMed, Web of Science, and EMBASE searches to prioritize obtaining the largest studies. The Medical Subject Headings and Boolean operators employed for this search were ("PMT" or "TIO" or "Tumor-induced osteomalacia" or "phosphaturic mesenchymal tumor") and ("spine" or "spinal"). Two researchers (L.S.Z. and D.B.C) independently reviewed and evaluated the included articles. Any differing opinions were discussed until a consensus was reached. A total of 18 studies were included. A case report is also presented. RESULTS: We report a case of spinal PMT. The full text of the relevant articles was construed. A total of 18 studies were reviewed and consolidated. These articles are roughly divided into the following 5 subcategories: 1) clinical features and baseline distribution, 2) laboratory and imaging findings, 3) pathological manifestations, and 4) surgical methods and treatment options. CONCLUSIONS: Spinal PMT is very rare with a high rate of misdiagnosis and debilitating complications, so it is of significance to increase awareness of the disease among spine surgeons consulted by patients with spinal PMT. 68Ga-DOTATOC-PET/CT shows very high sensitivity to the spinal PMT but there is no way to exactly determine the location of the tumor. PMT has unique immunohistochemical characteristics and malignant PMT is rare. Once diagnosed, complete surgical excision is the recommended treatment. Burosumab is one of the available options, especially in cases that are recurrent and difficult to surgically resect.

A Phosphaturic Mesenchymal Tumor Presenting as Reversible Metabolic Myopathy.

Tumor-induced osteomalacia (TIO) is a disorder in which the clinical signs and symptoms of osteomalacia and the biochemical abnormalities of hypophosphatemia, phosphaturia, and low serum levels of 1,25(OH)2 Vitamin D3 are secondary to a neoplasm. A 33-year-old woman presented with musculoskeletal pain and proximal myopathy with a duration of 2.5 years which was treated with Vitamin D supplements. On the basis of the biochemical tests and histopathology, she was reevaluated and found to have TIO secondary to a phosphaturic mesenchymal tumor. The tumor was resected (limb salvage with endoprosthesis), and she had no pain or weakness at followup. The case reminds the readers to consider the possibility of TIO when evaluating patients with isolated hypophosphatemia, which may lead to long-term disability and prolonged morbidity if untreated. Early recognition and diagnosis of TIO is crucial since resection of the tumor usually reverses its manifestations.

Fibrocartilaginous mesenchymoma: a clinicopathological analysis of four cases / 中华病理学杂志

Objective: To investigate the clinical, radiological, histological and molecular features and the differential diagnosis of fibrocartilaginous mesenchymoma (FM). Methods: Four cases of FM diagnosed in the Department of Pathology, the Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine from 2020 to 2022 were analyzed. Related literature was also reviewed. Results: Case 1 was a 10-year-old girl with bone destruction in the sacrum and L5 articular processes revealed by CT scan. Case 2 was a 7-year-old girl with an aggressive lesion in her right distal ulna. Case 3 was an 11-year-old boy with a lesion in the metaphysis of his left proximal tibia. Case 4 was an 11-year-old boy with bone destruction in the distal portion of a radius. Microscopically, the four tumors all consisted of numerous spindle cells, hyaline cartilage nodules, and bone trabeculae. The hypocellular to moderately cellular spindle cell component contained elongated cells with slightly hyperchromatic, mildly atypical nuclei arranged in bundles or intersecting fascicles. Benign-appearing cartilaginous nodules of various sizes and shapes were scattered throughout the tumors. There were areas mimicking epiphyseal growth-plate characterized by chondrocytes arranged in parallel columns and areas of enchondral ossification. The stroma was rich in mucus in case 1. Mutation of GNAS and IDH1/IDH2 and amplification of MDM2 gene were not found in any of the three tested cases. Conclusions: FM is very rare and tends to affect young patients. It most frequently occurs in the metaphysis of long tubular bones, followed by the iliac-pubic bones and vertebrae. FM is characterized by a mixed population of spindle cells, hyaline cartilage nodules and trabeculae of bone, without specific immunophenotypes and molecular alternations. As a borderline, locally aggressive neoplasm, surgical removal with a wide margin is generally the treatment of choice for FM.

A solitary fibrous tumor: an entity to consider in the diagnosis of liver masses

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The role of fine-needle aspiration cytology in the diagnosis of soft tissue nodules: Experience in a tertiary center / Utilidad de la punción-aspiración con aguja fina en el diagnóstico de nódulos de partes blandas: nuestra experiencia

INTRODUCTION: Excisional or core needle biopsy is considered the gold standard for diagnosing soft tissue lesions (STL). However, the role of fine-needle aspiration cytology (FNAC) in STL remains controversial. MATERIALS AND METHODS: We have reviewed 234 FNAC of STL diagnosed in our institution with the aim of analyzing the reliability of FNAC in STL. Cytological diagnoses were classified into groups and correlated with histological diagnoses. We have also reviewed the literature and compared our results with those previously reported. RESULTS: The majority of patients were male (53.4%) and mean age was 61 years. Lesions were mainly located in the head and neck region. Inadequate material was obtained in 22.6% of cases and most lesions were inflammatory lesions or benign soft tissue tumors. Carcinoma and benign soft tissue tumor were the most frequent cytological diagnoses. Biopsy was performed in 36.1% of cases, and carcinoma was detected in 33.3% of inflammatory FNACs. General and specific concordances were 65.9% and 47.1%. Diagnostic sensitivity, specificity, negative and positive predictive values were 71.4%, 100%, 85.7% and 93.8%, respectively. CONCLUSIONS: FNAC of STL is a valuable tool for diagnosing benign epithelial cysts, carcinomas, hematolymphoid neoplasms and benign soft tissue tumors. Inflammatory smears may be associated with false-negative cases. The availability of a multidisciplinary team, clinical and imaging features, ROSE and immunohistochemical and molecular techniques is required for improving the role of FNAC of STL

INTRODUCCIÓN: El estudio histológico se considera el gold standard para el diagnóstico de las lesiones de partes blandas (LPB). El valor de la punción-aspiración con aguja fina (PAAF) en las LPB es controvertido. MATERIAL Y MÉTODOS: Revisión de 234 PAAF de LPB diagnosticadas en nuestra institución. Los diagnósticos citológicos se clasificaron en grupos y se correlacionaron con el diagnóstico histológico. Revisamos la literatura y comparamos nuestros resultados con los descritos previamente. RESULTADOS: El 53,4% de pacientes fueron varones, y la edad media fue de 61 años. Las lesiones se localizaban principalmente en cabeza y cuello. En el 22,6% de los casos no se obtuvo material adecuado, y la mayor parte de estos casos fueron lesiones inflamatorias o tumores de partes blandas (TPB) benignos en histología. Los diagnósticos citológicos más frecuentes fueron carcinoma y TPB benigno. Se realizó biopsia en el 36,1% del total de los casos, y se detectó carcinoma en el 33,3%. La concordancia general y específica entre citología e histología fue del 65,9 y 47,1%, respectivamente. La sensibilidad, especificidad, valor predictivo negativo y positivo fueron del 71,4, 100, 85,7 y 93,8%, respectivamente. CONCLUSIONES: La PAAF es una herramienta útil para diagnosticar quistes epiteliales benignos, carcinomas, neoplasias hematopoyéticas y TPB benignos. Las lesiones inflamatorias en citología pueden tener una tasa importante de falsos negativos. La disponibilidad de un equipo multidisciplinar, los datos clínicos y de imagen, rapid on-site evaluation (ROSE) y las herramientas inmunohistoquímicas y moleculares son esenciales para mejorar el papel de la PAAF en el diagnóstico de las LPB

Endoscopic ultrasound-guided fine-needle aspiration cytology in the diagnosis of leiomyomas of the gastrointestinal tract / Citología por aspiración con aguja fina guiada por ecografía endoscópica en el diagnóstico de los leiomiomas del tracto digestivo

We investigated the efficiency and accuracy of endoscopic ultrasound-guided fine-needle aspiration cytology (EUS-FNAC) in the diagnosis of gastrointestinal leiomyoma (GIL). Between January 2009 and May 2018 we performed 795 EUS-FNAC studies of lesions of the gastrointestinal (GI) tract for various clinical indications. A diagnosis of GIL by cytological and cell block study was made in 14 patients (57.1% males, mean age 53.6 years, range 22-84 years).7 tumors (50%) were detected incidentally. The lesions ranged in size from 2 to 10cm (mean size 4.4cm). The location of the tumors was: esophagus 7 (50%), stomach 6 (42.9%) and rectum 1(7.1%). The mean size of the symptomatic tumors was 5.2cm (range 3-10cm). The follow-up of the 14 patients varied from 1 to 108 months (median 39.5 months), during which no recurrence or evidence of lesion progression was observed. Imaging alone was not sufficient for an accurate diagnosis to be made. The pathological diagnosis was based on a combination of cytological, histopathological, and immunohistochemical features. The intracytoplasmic eosinophilic globule is a useful marker of paucicellular GIL differentiating it from gastrointestinal stromal tumor and leiomyosarcoma. EUS-FNAC is a reliable, accurate, and safe method for the diagnosis of GIL

Hemos investigado la eficacia y la precisión de la citología por aspiración con aguja fina guiada por ecografía endoscópica (EUS-FNAC) en el diagnóstico del leiomioma gastrointestinal (LGI). Entre enero de 2009 y mayo de 2018 se realizaron 795 estudios EUS-FNAC de lesiones del tracto digestivo por una variedad de indicaciones clínicas. Catorce pacientes (57,1% varones, edad media: 53,6 años, rango: 22-84 años) fueron diagnosticados mediante estudio citológico y de bloque celular de LGI. Siete tumores (50%) fueron detectados de manera incidental. Las lesiones variaron en tamaño de 2 a 10cm (tamaño promedio: 4,4cm). La localización de los tumores fue: esófago 7 (50%), estómago 6 (42,9%) y recto uno (7,1%). El tamaño medio de los tumores sintomáticos fue de 5,2cm (rango: 3-10cm). El seguimiento de los 14 pacientes varió de uno a 108 meses (mediana: 39,5 meses). No se observó recurrencia o evidencia de progresión de la lesión. El estudio de las imágenes radiológicas por sí solo no permitió diagnosticar la lesión. El diagnóstico patológico se basó en una combinación de datos citológicos, histopatológicos e inmunohistoquímicos. El glóbulo eosinofílico intracitoplasmático es un marcador útil de LGI paucicelular que permite diferenciarlo del tumor del estroma gastrointestinal y del leiomiosarcoma. La EUS-FNAC es un método fiable, preciso y seguro para el diagnóstico del LGI

Angiomixoma agresivo postrasplante renal / Aggresive angiomyxoma after renal transplantation

La condición de inmunosuprimido aumenta el riesgo de cáncer en trasplantados renales, en comparación a la población general. La mejor supervivencia de esta población en los últimos años ha convertido a las neoplasias y a la enfermedad cardiovascular en las principales causas de morbi-mortalidad. Presentamos el caso de un paciente trasplantado renal que desarrolló cuatro años después del trasplante una forma inusual de tumor mesenquimatoso, el angiomixoma agresivo, que requirió resección quirúrgica amplia.

The condition of immunosuppressed increases the risk of cancer in kidney transplant patients, as compared to the general population. The best survival of inmunosupressed patients in recent years has turned both neoplasms and cardiovascular diseases into the main causes of morbidity and mortality. We present the case of a renal transplanted patient who developed an unusual form of mesenchymal tumor such as the aggressive angiomyxoma, four years after the implant and requiring wide surgical resection.

A reddish plaque in the forehead / Placa rojiza en la frente

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Endoscopic Ultrasonography in the Diagnosis and Treatment Strategy Choice of Esophageal Leiomyoma

OBJECTIVES: Esophageal leiomyoma is the most common benign tumor of the esophagus, and it originates from mesenchymal tissue. This study analyzed the clinicopathological characteristics of esophageal leiomyoma and aimed to evaluate the role of endoscopic ultrasonography in the diagnosis and treatment selection for these lesions. METHODS: Two hundred and twenty-five patients who had suspected esophageal leiomyomas in endoscopic ultrasonography were enrolled at the Endoscopy Center of The First Affiliated Hospital, Zhejiang University from January 1st, 2009 to May 31th, 2015. The main outcomes included the demographic and morphological characteristics, symptoms, comparisons of diagnosis and treatment methods, adverse events, and prognosis. RESULTS: One hundred and sixty-seven patients were diagnosed as having an esophageal leiomyoma by pathological examination. The mean patient age was 50.57±9.983 years. In total, 62.9% of the lesions originated from the muscularis mucosa, and the others originated from the muscularis propria. The median distance to the incisors was 30±12 cm. The median diameter was 0.72±0.99 cm. As determined by endoscopic ultrasonography, most existing leiomyomas were homogeneous, endophytic, and spherical. The leiomyomas from the muscularis mucosa were smaller than those from the muscularis propria and much closer to the incisors (p<0.05). SMA (smooth muscle antibody) (97.2%) and desmin (94.5%) were positive in the majority of patients. In terms of treatments, patients preferred endoscopic therapies, which led to less adverse events (e.g., intraoperative bleeding, local infection, pleural effusion) than surgical operations (p<0.05). The superficial leiomyomas presented less adverse events and better recovery (p<0.05) than deep leiomyomas. CONCLUSION: Endoscopic ultrasonography has demonstrated high accuracy in the diagnosis of esophageal leiomyomas and provides great support in selecting treatments; however, EUS cannot completely avoid misdiagnosis, so combining it with other examinations may be a good strategy to solve this problem.

Osteomalacia tumoral: un síndrome paraneoplásico emergente / Tumour-induced osteomalacia: An emergent paraneoplastic syndrome

Los síndromes paraneoplásicos endocrinos constituyen manifestaciones a distancia de algunas neoplasias. Una forma infrecuente, pero cada vez más descrita, es la osteomalacia tumoral (OT), un trastorno hipofosfatémico secundario a la pérdida renal de fosfatos inducida por la secreción tumoral del factor de crecimiento fibroblástico 23 (FGF-23). Sus principales manifestaciones bioquímicas son la hipofosfatemia, la reabsorción tubular de fosfatos inadecuadamente normal o baja, los niveles bajos de calcitriol, la fosfatasa alcalina elevada y el FGF-23 sérico elevado o normal. Los tumores asociados a la OT suelen ser pequeños, benignos, de lento crecimiento, de difícil localización y con predominio en las partes blandas de los miembros. La histología más frecuente son los tumores mesenquimales fosfatúricos tipo tejido conectivo mixto. Se han propuesto varias técnicas de imagen para su identificación con resultados variables. El tratamiento de elección es la resección quirúrgica completa de la lesión. Otras alternativas terapéuticas son las sales de fósforo, el calcitriol, la octreótida, el cinacalcet y los anticuerpos monoclonales (AU)

Endocrine paraneoplastic syndromes are distant manifestations of some tumours. An uncommon but increasingly reported form is tumour-induced osteomalacia, a hypophosphatemic disorder associated to fibroblast growth factor 23 (FGF-23) secretion by tumours. The main biochemical manifestations of this disorder include hypophosphatemia, inappropriately low or normal tubular reabsorption of phosphate, low serum calcitriol levels, increased serum alkaline phosphatase levels, and elevated or normal serum FGF-23 levels. These tumours, usually small, benign, slow growing and difficult to discover, are mainly localized in soft tissues of the limbs. Histologically, phosphaturic mesenchymal tumours of the mixed connective tissue type are most common. Various imaging techniques have been suggested with variable results. Treatment of choice is total surgical resection of the tumour. Medical treatment includes oral phosphorus and calcitriol supplements, octreotide, cinacalcet, and monoclonal antibodies (AU)

Primary osteosarcoma of the breast: pathological and imaging findings / Osteossarcoma primário da mama: achados patológicos e de imagem

SUMMARY Primary osteosarcoma of the breast (POB) is an extremely rare and aggressive tumor. Differential diagnosis of POB includes osteosarcoma of the chest wall and metaplastic breast carcinoma. Imaging tests that exclude the existence of a direct connection between the tumor and chest wall, as well as histopathological and immunohistochemical studies that rule out the presence of an epithelial component are required for the diagnosis of POB. We report a case of a 69-year old woman with POB. Imaging and pathological findings are presented. Therapeutic approach is discussed in the light of current knowledge, including potential complications.

RESUMO O osteossarcoma primário da mama (OPM) é um tumor extremamente raro e agressivo. O diagnóstico diferencial do OPM inclui o osteossarcoma da parede torácica e o carcinoma metaplásico da mama. Exames de imagem que excluam a existência de uma conexão direta entre o tumor e a parede torácica, e estudos histopatológico e imuno-histoquímico que descartem a presença de um componente epitelial são necessários para o diagnóstico de OPM. Relatamos um caso de OPM em uma mulher de 69 anos de idade. Os achados de imagem e patológicos são apresentados. A abordagem terapêutica é discutida à luz do conhecimento atual, incluindo potenciais complicações.

Mesenquimoma fibrocartilaginoso de húmero proximal: reporte de un caso / Fibrocartilaginous mesenchymoma of the proximal humerus: case report

El mesenquimoma fibrocartilaginoso (MFC) es un tumor raro, que afecta principalmente a los huesos largos. Se han reportado pocos casos desde su descripción. Presentamos un caso de un niño de 4 años de edad con MFC situado en el húmero. Las radiografías mostraron una lesión lítica expansiva situada en la región metafisaria del húmero proximal. La resonancia magnética objetivó expansión del tumor a partes blandas. La anatomía patológica fue confirmatoria de MFC. El paciente fue tratado con curetaje, fenolización adyuvante y sustituto óseo mezclado con aspirado de médula ósea. A los dos años de seguimiento, no se evidenció recidiva. El MFC debe ser tenido en cuenta entre los diagnósticos diferenciales en lesiones óseas líticas en niños y adolescentes.

Fibrocartilaginous mesenchymoma (FCM) is a rare tumor that primarily affects the long bones. Few cases have been reported since its description. A case of a 4-year-old boy with FCM located in the humerus is presented. Radiological examination showed an expansive lytic lesion located in the metaphyseal proximal humerus. Magnetic resonance imaging showed soft tissue expansion. Histopathological diagnosis was confirmatory of FCM. Curettage, adjuvant phenolization, and bone grafting with bone substitute, and autologous bone marrow was performed. During a follow-up period of 2 years, there was no evidence of disease progression. FCM should be considered in the differential diagnosis of lytic bone lesions in children and adolescents.

Tumor del estroma gastrointestinal gástrico epitelioide en el curso de una leucemia de linfocitos grandes granulares T / Gastrointestinal stromal tumour coexisting with a T cell large granular lympholcytic leukemia

Los tumores del estroma gastrointestinal (GIST) representan las neoplasias mesenquimales más comunes del tracto gastrointestinal. Estos tumores generalmente muestran expresión inmunohistoquímica de c-KIT y/o DOG-1 y presentan mutaciones en los genes KIT o PDGFRα. La coexistencia de GIST con otras neoplasias ha sido ampliamente documentada en la literatura. Los tumores más comúnmente asociados a GIST son los carcinomas y las patologías hematológicas, sobre todo las leucemias mieloides. Describimos un caso de coexistencia de GIST con leucemia de linfocitos grandes granulares, algo previamente no descrito en la literatura. Se describen las características clinicopatológicas de ambos tumores y se revisa la literatura actualizada sobre el tema (AU)

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. GISTs usually have c-KIT and/or DOG-1 immunoexpression and are related to mutational activation of KIT or PDGFRα. The coexistence of GISTs with other neoplasms has been frequently reported, the most common secondary neoplasms being carcinomas and hematologic neoplasms, mainly myeloid leukaemia. We describe, to our knowledge for the first time, the coexistence of GIST and T-large granular lymphocytic leukemia (T-LGL). The clinicopathological features of both tumours are discussed and the recent literature is reviewed (AU)

Hamartoma mesenquimal rabdomiomatoso / Rhabdomyomatous mesenchymal hamartoma

El hamartoma mesenquimal rabdomiomatoso es una lesión congénita rara que consiste en la presencia de fibras musculares estriadas dispuestas al azar a nivel de dermis como consecuencia de una migración anómala durante la embriogénesis. Se presenta el caso de un paciente de un año de edad que mostró una lesión bilobulada en línea cervical media que tras la extirpación se diagnosticó de hamartoma mesenquimal rabdomiomatoso sin encontrarse malformaciones congénitas asociadas. Se describen las características clínicas e histopatológicas de esta entidad(AU)

Rhabdomyomatous mesenchymal hamartoma is a rare congenital lesion which consists of randomly arranged striated muscle fibers interspersed with mesenchymal elements. We describe the clinical and histopathological features of a rhabdomyomatous mesenchymal hamartoma in a one year-old patient presenting a bilobulated lesion in the mid-cervical line. No associated congenital malformations were observed(AU)