Tumor mesenquimático fosfatúrico de pelvis: abordaje multidisciplinario / Phosphaturic mesenchymal tumor of the pelvis: A multidisciplinary approach

El tumor mesenquimático fosfatúrico es una entidad clinicopatológica sumamente infrecuente. Además de provocar dolor óseo insidioso y polimialgias, se acompaña de alteraciones del metabolismo fosfocálcico de difícil manejo clínico. El abordaje multidisciplinario resulta la clave del éxito en esta enfermedad. Presentamos una paciente de 52 años de edad con antecedente de tumor mesenquimático fosfatúrico en la hemipelvis derecha con extensión a la cadera homolateral de 10 años de evolución. Clínicamente presentaba osteomalacia oncogénica (hipofosfatemia e hiperfosfaturia) que no se corregía, pese a un agente de última generación, el burosumab, un inhibidor del factor de crecimiento fibroblástico 23, que aumenta la reabsorción tubular renal de fosfatos. En un comité multidisciplinario, se decidió la resección con márgenes oncológicos y se logró una mejoría clínica franca. Comunicamos este caso, debido a que es un cuadro infrecuente. Nivel de Evidencia: IV

Phosphaturic mesenchymal tumor (PMT) is an infrequent clinicopathological entity. It presents insidious bone pain and polymyalgia, accompanied by alterations in calcium and phosphorus metabolism that are difficult to resolve clinically. A multidisciplinary approach is a key to success in this pathology. We present the case of a 52-year-old female patient with a 10-year history of PMT in the right hemipelvis with ipsilateral hip extension. From the clinical point of view, she presented oncogenic osteomalacia (hypophosphatemia and hyperphosphaturia) that did not correct despite being administered the latest generation medication, burosumab, an FGF-23 inhibitor that increases renal tubular phosphate reabsorption. Resection with oncological margins was decided by a multidisciplinary committee resolving her clinical condition. Due to the rarity of this pathology, we decided to report the case. Level of Evidence: IV

Updating on Bone and Soft Tissue Sarcomas Staging / Atualização no estadiamento dos sarcomas ósseos e das partes moles

Abstract Bone and soft tissue sarcomas consist of a heterogeneous group of malignant tumors of mesenchymal origin that can affect patients from any age. The precise staging of these lesions determines the best therapeutic strategies and prognosis estimates. Two staging systems are the most frequently used: the system proposed by the University of Florida group, led by Dr. William F. Enneking (1980) and adopted by the Musculoskeletal Tumor Society (MSTS), and the system developed by the American Joint Committee on Cancer (AJCC) (1977), currently in its 8th edition (2017). This paper updates the reader on the staging of bone and soft tissue sarcomas affecting the musculoskeletal system.

Resumo Os sarcomas ósseos e das partes moles consistem em grupo heterogêneo de neoplasias malignas de origem mesenquimal que podem ocorrer em qualquer faixa etária. O estadiamento preciso destas lesões determina as melhores estratégias terapêuticas e estimativas de prognóstico. Dois sistemas de estadiamento são os mais frequentemente empregados no manejo destas neoplasias: o sistema proposto pelo grupo da Universidade da Flórida, liderado pelo Dr. William F. Enneking (1980), adotado pela Musculoskeletal Tumor Society (MSTS) e o sistema desenvolvido pela American Joint Committee on Cancer (AJCC) (1977) que se encontra em sua 8a edição (2017). O presente artigo busca atualizar o leitor a respeito do estadiamento dos sarcomas ósseos e das partes moles que acometem o sistema musculoesquelético.

Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss

Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia. Patients typically present with gradual muscular weakness and diffuse bone pain from pathologic fractures. The diagnosis is often delayed due to the non-specific nature of the symptoms and lack of clinical suspicion. While serum phosphorus and FGF23 testing can assist in making a clinical diagnosis of PMT, the responsible tumor is often difficult to locate. The pathologic diagnosis is often missed due to the rarity of PMTs and histologic overlap with other mesenchymal neoplasms. While patients can experience severe disabilities without treatment, excision is typically curative and results in a dramatic reversal of symptoms. Histologically, PMT has a variable appearance and can resemble other low grade mesenchymal tumors. Even though very few cases of PMT have been reported in the world literature, it is very important to consider this diagnosis in all patients with hypophosphatemic osteomalacia. Here we present a patient who suffered for almost 5 years without a diagnosis. Ultimately, the PMT was located on a 68Ga-DOTA TATE PET/CT scan and subsequently confirmed by histologic and immunohistologic study. Interestingly, strong positivity for FGFR1 by IHC might be related to the recently described FN1-FGFR1 fusion. Upon surgical removal, the patient's phosphate and FGF23 levels returned to normal and the patient's symptoms resolved.

Perfurador baseado em transposição de retalho estenocelidomastoide para defeitos da região posterior do pescoço: uma nova alternativa / Perforator based sternocleidomastoid transposition flap for nape of neck defect: a novel option

Retalhos do músculo esternocleidomastoideo têm sido descritos na literatura para reconstrução dos defeitos da cavidade oral e tratamento da síndrome de Frey. Apesar de largamente estudado, esses retalhos não são utilizados com frequência para reconstruções na região de cabeça e pescoço devido limitações como tamanho reduzido, camadas inseguras, contorno da deformidade no pescoço e questões de segurança oncológica. Relata-se uso de perfurador baseado em transposição de retalho para defeito na região da posterior do pescoço, seguido por excisão de sarcoma de partes moles. Trata-se de alternativa válida para procedimentos de reconstrução como retalhos regionais de pedículo ou transferência de tecido livre em um grupo apropriado de pacientes.

Sternocleidomastoid musculocutaneous flaps have been described in the literature for reconstruction of oral cavity defects and treatment of Frey's syndrome. Although widely studied, it is not used routinely in head and neck reconstruction due to limitations like small size, unreliable skin paddle, contour deformity in the neck and the question of oncologic safety. We report use of perforator based musculocutaneous transposition flap for defect over nape of the neck, followed by excision of a soft tissue sarcoma. This constitutes a valid alternative to other reconstructive procedures like pedicled regional flaps or free tissue transfer in a suitable group of patients.

Osteomalacia oncogénica: Presentación de dos casos

La osteomalacia oncogénica es una enfermedad rara. Existen descriptos alrededor de 337 casos. Es ocasionada por un tumor productor del factor de crecimiento fibroblástico 23 (FGF-23), hormona que disminuye la reabsorción tubular de fosfatos y altera la hidroxilación renal de la vitamina D, con hipofosfatemia, hiperfosfaturia y niveles bajos de calcitriol. Se presentan dos pacientes de 44 y 70 años, que consultaron por dolores óseos generalizados de aproximadamente un año de evolución en los que se hallaron alteraciones bioquímicas compatibles con osteomalacia hipofosfatémica. En el primer caso se realizó la resección de una tumoración en tejido celular subcutáneo del pie derecho, un año después del diagnóstico clínico. Luego de la exéresis, se disminuyó el aporte de fosfatos que recibía el paciente, pero reaparecieron los dolores al intentar suspenderlos. Ocho años más tarde, hubo recidiva local de la tumoración por lo que se efectuó resección completa. Después de la misma, se logró suspender el aporte de fosfatos. En el segundo caso, el paciente se estudió con tomografía por emisión de positrones con 18F-fluorodesoxiglucosa, hallando formación nodular hipermetabólica en partes blandas de antepie derecho, de 2.26 cm de diámetro. Luego de su escisión se pudo suspender el aporte de fosfatos. Ambos pacientes se encuentran asintomáticos con indicadores de metabolismo fosfocálcico normales. El diagnóstico anatomopatológico en ambos fue un tumor mesenquimático fosfatúrico, variante mixta del tejido conectivo, la entidad más frecuentemente asociada a la osteomalacia oncogénica.

Oncogenic osteomalacia is a rare disease. It is caused by a tumor that produces fibroblast growth factor 23, a hormone that decreases the tubular phosphate reabsorption and impairs renal hydroxylation of vitamin D. This leads to hyperphosphaturia with hypophosphatemia and low calcitriol levels. About 337 cases have been reported and we studied two cases; 44 and 70 year-old men who sought medical attention complaining of suffering diffuse bone pain over a period of approximately one year. In both cases, a laboratory test showed biochemical alterations compatible with a hypophosphatemic osteomalacia. In the first case, a soft tissue tumor of the right foot was removed, one year after the diagnosis. The patient was allowed to diminish the phosphate intake, but symptoms reappeared at this time. Eight years later, a local recurrence of the tumor was noted. A complete excision was now performed. The patient was able to finally interrupt the phosphate intake. In the second case, an F-18 fluorodeoxyglucose positron emission tomography, with computed tomography revealed a 2.26 cm diameter hypermetabolic nodule in the soft tissue of the right forefoot. After its removal, the patient discontinued the phosphate intake. Both patients are asymptomatic and show a regular phosphocalcic laboratory evaluation. The histopathological diagnosis was, in both cases, a phosphaturic mesenchymal tumor, a mixed connective tissue variant. This is the prototypical variant of these tumors.

Osteomalacia inducida por tumor: hemangiopericitoma rinosinusal / Tumor-induced osteomalacia: rhinosinusal hemangiopericytoma

La osteomalacia inducida por tumor es una rara enfermedad del metabolismo óseo caracterizada por el aumento en la excreción de fosfato a nivel renal seguido de hipofosfatemia. Es causada por agentes fosfatúricos producidos por determinados tumores. La resección total del tumor resulta en la completa reversión de las anormalidades bioquímicas, la desaparición de las manifestaciones clínicas y los hallazgos en los estudios por imágenes. Presentamos el caso de un varón de 61 años con cuadro clínico y laboratorio compatibles con osteomalacia oncogénica inducida por tumor mesenquimático de localización rinosinusal. En nuestro caso el diagnóstico histológico correspondió a una neoplasia de tipo vascular: hemangiopericitoma.

Tumor-induced osteomalacia is a rare disease of bone metabolism. The characteristic of this disease is an increase in phosphate excretion followed by hypophosphatemia, due to phosphaturic agents produced by different types of tumors. Tumor resection results in complete resolution of clinical, biochemical and radiological abnormalities. We present the case of a 61 year old man with signs, symptoms and laboratory findings consistent with oncogenic osteomalacia due to a rhino-sinusal mesenchymal tumor. The histological diagnosis showed a vascular neoplasm: hemangiopericytoma.

Osteomalacia por tumor secretor de FGF-23 / Ostemalacia due to a tumor secreting FGF-23

Se presenta un caso de osteomalacia oncogénica en un varón de 50 años, con fuertes dolores óseos y gran debilidad muscular durante 4 años. Tenía varias deformidades vertebrales dorsales en cuña, fracturas en ambas ramas iliopubianas y en una rama isquiopubiana, y una zona de Looser en la meseta tibial derecha. Se localizó un tumor de 2 cm de diámetro en el hueco poplíteo derecho mediante centellograma con octreótido marcado con tecnecio. El tumor fue extirpado quirúrgicamente. La microscopía mostró un tumor mesenquimático fosfatúrico, de tejido conectivo mixto. La inmunotinción demostró FGF-23. Hubo rápida mejoría, con consolidación de las fracturas pelvianas y de la pseudofractura tibial y normalización de las alteraciones bioquímicas.

A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years' duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Looser's zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.

Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis / Osteomalacia oncogênica: a perda de fosfatemia pode ser a chave para evitar o diagnóstico incorreto

Diagnosing oncogenic osteomalacia is still a challenge. The disorder is characterized by osteomalacia caused by renal phosphate wasting and low serum concentration of 1,25-dihydroxyvitamin D3 occurring in the presence of a tumor that produces high levels of fibroblast growth factor 23. However, it is possible that the disease is much more misdiagnosed than rare. We present the case of a 42-year-old man with a long-term history of undiagnosed progressive muscle weakness. His laboratory results mainly showed low serum phosphate. Surgical removal of a nasal hemangiopericytoma that had been diagnosed five years earlier, brought him to a symptom-free condition. Even though knowing the underlying etiology would explain his osteomalacia, the patient sought medical help from countless physicians for five consecutive years, and only after adequate treatment a rewarding outcome was achieved. Arq Bras Endocrinol Metab. 2012;56(8):570-3.

A osteomalacia oncogênica é um diagnóstico clínico desafiador, caracterizado pela perda renal de fosfato e baixos níveis de 1,25-di-hidroxivitamina D3, ocorrendo na presença de um tumor produtor de altos níveis de fator de crescimento de fibroblasto 23. No entanto, é possível que se trate muito mais de uma falha de diagnóstico clínico do que propriamente uma doença rara. Os autores relatam o caso de um homem de 42 anos com histórico de fraqueza muscular progressiva por cinco anos e restrição à cadeira de rodas, sem diagnóstico. Seus exames laboratoriais evidenciavam baixos níveis de fósforo. A remoção cirúrgica de um hemangiopericitoma detectado previamente em cavidade nasal levou à resolução completa dos sintomas. Os autores enfatizam que, mesmo com a etiologia já evidenciada, o paciente consultou diversos clínicos no decorrer dos cinco anos até que fossem instituídos o diagnóstico e o tratamento adequados. Arq Bras Endocrinol Metab. 2012;56(8):570-3.

Mixoma do tecido mole cervical: relato de caso e revisão da literatura / Myxoma of cervical soft tissue: case report and literature review

Introdução: Mixomas são tumores mesenquimais benignos que ocorrem raramente na região da cabeça e do pescoço. A maioria das lesões é de origem odontogênica e envolvem os ossos da face. Mixomas do tecido mole são muito raros e amplamente distribuídos pelo corpo, sendo mais freqüentemente relatados na musculatura cardíaca. Objetivo: Descrever um raro caso de mixoma do tecido mole extramuscular em região submandibular esquerda. Relato do Caso: Paciente do sexo masculino portador de mixoma extramuscular em loja submandibular esquerda, inicialmente conduzido como um cisto branquial. O tratamento consistiu na excisão cirúrgica com margens adequadas e posterior confirmação histológica do mixoma. Conclusões: A ressecção com margens adequadas é o tratamento de escolha para evitarem recidivas e o seguimento ambulatorial deve rigoroso.

Introduction: Myxomas are benign mesenchymal tumors that rarely occur in the head and neck area. Most of these injuries are odontogenic and involve facial bones. Myxomas of the soft tissue are very rare and widely distributed in the body, and most frequently reported in the heart muscles. Objective: To describe a case of extramuscular soft tissue myxoma in the left submaxillary area. Case Report: A male patient was referred to our service with extramuscular soft tissue myxoma in the left submaxillary area initially behaved as a branchial cyst. The treatment consisted of surgical excision with adequate margins and subsequent histology confirmation of the myxoma. Conclusions: The adequate resection of extramuscular myxoma is the main choice to avoid local failure, and the follow-up must be rigorous.

Anomalías vasculares de partes blandas: imágenes diagnósticas / Vascular anomalies of soft tissues: diagnostic images

Vascular anomalies include different pathologies as hemangiomas and vascular malformations, however they usually are reported together and confusion is created. Mülliken and Glowacki proposed a classification posteriorly, modificated, adapted and actually in use. Unfortunately is not sufficiently known for our radiologist. Classification and imaging correlation of soft-tissue vascular anomalies are revised, since a exact diagnosis is a great value for appropriate treatment and prognosis.

Las anomalías vasculares han sido tradicionalmente tratadas en conjunto aun cuando engloban patologías tan diferentes como hemangiomas y malformaciones vasculares. La clasificación dada a conocer por Mülliken y Glowacki, modificada posteriormente, no es suficientemente conocida ni usada en nuestro medio. Se revisa la clasificación actual y la correlación con imágenes de aquellas anomalías vasculares situadas en partes blandas, dada la importancia que tiene un correcto diagnóstico para la terapéutica y pronóstico de los pacientes con estas lesiones.

Hamartoma fibroso infantil: lesão volumosa com envolvimento de plexo braquil / Children's fibrous hamartoma: extensive injury involving brachial plexus

OBJETIVO: Apresentar um caso de hamartoma fibroso da infância em lactente ressecado tardiamente e se apresentando como lesão extensa, com envolvimento de elementos vasculares e neurais do plexo braquial. MÉTODOS: Estudo de caso clínico e revisão de literatura pertinente. RESULTADOS: Criança do sexo masculino, com massa tumoral axilar direita, irregular surgida aos 2 meses de idade e relacionada à administração da vacina BCG, sendo tratada com agentes anti-tuberculosos, sem resposta. Mediante biópsia a lesão foi diagnosticada como hamartoma fibroso infantil, e, após sofrer período de crescimento rápido, foi submetida à exérese cirúrgica completa. CONCLUSÃO: O hamartoma fibroso juvenil é um tumor benigno raro, tipicamente se apresentando no primeiro ano de vida em meninos, com localização mais comum no oco axilar. O diagnóstico diferencial se faz com tumores de partes moles em geral e, em casos de apresentação na axila direita, com adenopatias axilares causadas por reação à BCG. O tratamento é exerese completa da lesão e o prognóstico é favorável.

OBJECTIVE: To present a case of fibrous hamartoma in a late-dried infant presenting as an extensive injury, involving vascular and neural elements of brachial plexus. METHODS: Clinical case study and pertinent literature review. RESULTS: Male child, with right axillary irregular tumoral mass, of which onset occurred at 2 months of age and related to BCG vaccine application, being treated with anti-tuberculosis agents, not responding to therapy. Upon biopsy, the injury was diagnosed as childrenÆs fibrous hamartoma, and, after a fast growing period, was submitted to total surgical exeresis. CONCLUSION: The juvenile fibrous hamartoma is a rare benign tumor, typically occurring within the first year of life in boys, most commonly located at axillary gap. The differential diagnosis is performed with soft parts tumors in general, and, in right axillary location cases, with axillary adenopathies caused by responses to BCG vaccine. Treatment approach is total exeresis of the injury and the prognosis is favorable.

Expresión de CD-34 en el elastofibroma. Estudio clinicopatológico, histoquímico e inmunohistoquímico de cuatro casos / Cd-34 expression in elastofibroma. Histochemical, immunohistochemical and clinopathological study of four cases

Objetivo. Explorar la expresión imunohistoquímica de células en casos de elastofibroma y evaluar cuatro técnicas histoquímicas para fibras elásticas. Material y métodos. Se obtuvieron cuatro elastofibromas de los archivos del departamento de patología del Hospital ABC. Todos los pacientes fueron mujeres cuyas lesiones se encontraron en la región subescapular. Se realizó inmunohistoquímica para CD34, actina, desmina, vimentina, proteína S-100 y bcl-2 y se evaluaron cuatro métodos para fibras elásticas (Verhoff, Gallego, Reyes-Mota y Russel-Movat). Resultados. En los cuatro casos habían numerosos miofibroblastos (positivos a la vimentina/actina/desmina). Además encontramos células dendríticas distribuidas irregularmente, positivas al CD34. Las tinciones de Verhoff y Reyes-Mota son las que mejor resaltan el componente elástico. El método de Russel-Movat es útil para distinguir diferentes componentes de tejido conectivo. Conclusión. Las células del elastofibroma originalmente se consideraron fibroblastos. La presencia de vimentina/actina/desmina sugiere que existe una población de miofibroblastos. Describimos por primera vez, células fusiformes y dendríticas, positivas al CD34 (QBend/10) distribuidas irregularmente en toda la lesión. Estas células pueden ser población reactiva de células del ®sistema dendrítico dérmico¼. No encontramos inmunorreactividad para bcl-2 en las células fusiformes y dendríticas

Nevus lipomatoso superficial de Hoffman y Zurhelle / Naevus lipomatosus superficialis of Hoffman and Zurhelle

Se describen tres casos de nevus lipomatoso superficial de Hoffman y Zurhelle vistos en los últimos 25 años en el Servicio de Dermatología del Hospital José Joaquín Aguirre. La edad de aparición de las lesiones estuvo entre 0 y 14 años de edad; fueron lesiones salientes del color de la piel, agrupadas o de disposición lineal, sésiles o pediculadas y asintomáticas, y en el examen histológico de los tres se ve tejido adiposo maduro normotípico en la dermis superficial rodeando las estructuras vasculares. El principal diagnóstico diferencial es la hipoplasia dérmica focal o síndrome de Goltz, aunque en nevi melanocíticos intradérmicos y en fribromas blandos de gran tamaño es frecuente encontrar también tejido adiposo en la dermis

Quiste sinovial / Sinovial cyst

Los quistes sinoviales o ganglionares son estructuras originadas en la cápsula articular, de contenido mucinoso y conectados directamente a articulaciones o vainas sinoviales, siendo los tumores de partes blandas más frecuentes de mano y muñeca. Se han postulado muchas hipótesis respecto a su patogénesis considerándoseles principalmente como: protusiones de la sinovial, neoplasias benignas o lesiones degenerativas del tejido conectivo. Su ubicación más frecuente es el dorso de muñeca (ganglión originado en el ligamento escafolunato). La mayoría son asintomáticos y los pacientes consultan principalmente por razones de orden estético. Sin embargo, pueden producir dolor, sensación de debilidad o parestesias. El tratamiento puede ser conservador (observación en espera de regresión espontánea, aspiración, radioterapia, inyección de corticoides o de esclerosantes), pero lo más usado y efectivo continúa siendo la cirugía, que incluye excisión, sutura con punto transfixiante o resección artroscópica