Metástasis hepática de adenoma pleomorfo / Hepatic metastasis of a pleomorphic adenoma

El adenoma pleomorfo es el tumor benigno más frecuente de las glándulas salivales. Puede sufrir transformación maligna y metastatizar a otros órganos distantes y, en otros casos, hacerlo como un tumor benigno. Se presenta el caso de un hombre de 82 años con lesión hepática detectada por ecografía en estudio urológico de rutina. La tomografía computarizada reveló una imagen sólida en los segmentos V-VI-VII del hígado. Se efectuó biopsia de la lesión de cuyo examen se informó metástasis de adenoma pleomorfo salival. Se realizó hepatectomía derecha y la anatomía patológica describió un tumor de 10 cm de diámetro, con margen libre, compatible con adenoma pleomorfo salival, 32 años después de la cirugía de su tumor primario. Luego de 8 años, en el seguimiento se hallaron cuatro nódulos hepáticos y una nueva imagen ósea en la vértebra L4 sugerente de recurrencia de la enfermedad. Se decidió administrar radioterapia corporal estereotáctica a la lesión ósea y evaluar la respuesta para decidir el futuro tratamiento de los nódulos hepáticos, debido a su lento crecimiento.

Pleomorphic adenoma is the most benign tumor of the salivary glands. It can undergo a malignant transformation to carcinoma and metastasize to distant organs, sometimes it can metastasize as a benign tumor. We present the case of an 82 years old male with hepatic lesion detected by ultrasound in routine urologic follow-up. CT scan revealed a solid image placed in segments V-VI-VII of the liver. A CT guided fine needle biopsy was made. Pathologic analysis reported a pleomorphic salivary adenoma metastasizing in the liver. Right hepatectomy was performed. Pathology study described a 10 cm diameter tumor with free margin, compatible with pleomorphic salivary adenoma, 32 years after surgery for the primary tumor. After 8 years of follow up, four hepatic nodules and a bone image in L4 vertebra that seemed to be a disease recurrence were found. It was decided to administer stereotactic body radiotherapy to the bone lesion and evaluate the response to decide the future treatment of the hepatic nodules, due to its slow growth.

[Hepatic metastasis of a pleomorphic adenoma]. / Metástasis hepática de adenoma pleomorfo.

Pleomorphic adenoma is the most benign tumor of the salivary glands. It can undergo a malignant transformation to carcinoma and metastasize to distant organs, sometimes it can metastasize as a benign tumor. We present the case of an 82 years old male with hepatic lesion detected by ultrasound in routine urologic follow-up. CT scan revealed a solid image placed in segments V-VI-VII of the liver. A CT guided fine needle biopsy was made. Pathologic analysis reported a pleomorphic salivary adenoma metastasizing in the liver. Right hepatectomy was performed. Pathology study described a 10 cm diameter tumor with free margin, compatible with pleomorphic salivary adenoma, 32 years after surgery for the primary tumor. After 8 years of follow up, four hepatic nodules and a bone image in L4 vertebra that seemed to be a disease recurrence were found. It was decided to administer stereotactic body radiotherapy to the bone lesion and evaluate the response to decide the future treatment of the hepatic nodules, due to its slow growth.

Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma.

PURPOSE: Pulmonary benign metastasizing leiomyoma (PBML), a rare condition of smooth muscle tumor, originates from women with a history of uterine leiomyoma (LM). Numerous genetic studies of uterine LM have been reported; however, there are few cytogenetic and molecular descriptions of PBML. Therefore, molecular subtyping is necessary to understand the pathogenesis of metastasizing sites. METHODS: Driver gene exon-capture sequencing was performed on one patient's peripheral blood, paraffin samples from primary uterine LM, and lung metastasizing leiomyoma 8 years later. RESULTS: The results showed that the same missense mutations of BLMH, LRP2, MED12, SMAD2, and UGT1A8 were concurrently mutated in the primary uterine LM and the PBML. Moreover, a splice mutation of PTEN (c.492+1G>A) was uniquely identified in the lung metastasis of the patient. CONCLUSION: This study indicates that the metastatic lung lesions were derived from the same malignant cell clone of uterine LMs and later acquired the novel driver mutations in the evolution of the tumor. In addition, driver gene sequencing can discriminate somatic driver mutations as biological indicators of potential malignant leiomyoma and can identify pathogenic variation driver mutations, which could be used for individualized therapy.

Metastasizing pleomorphic adenoma of the parotid gland.

Salivary gland tumours are estimated to represent approximately 3% of all head and neck tumours. About 70-80% of these neoplasms occur in the major salivary glands, with the parotid gland being the most commonly affected site. The metastasizing pleomorphic adenoma (MPA) has histological characteristics of pleomorphic adenoma, but it has the capacity to generate local recurrences and distant metastases (mainly bones, lungs, and lymph nodes). Despite the fact that some authors consider it to be a benign neoplasia, the 2015 World Health Organisation (WHO) classification of head and neck tumours considers it to be malignant. We present a highly unusual case of metastasizing pleomorphic adenoma of the parotid gland and a bibliographic review.

Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas.

AIMS: Metastasizing pleomorphic adenoma (MPA) is a rare tumour, and its mechanism of metastasis still is unknown. To date, there has been no study on MPA genomics. We analysed primary and secondary MPAs with array comparative genomic hybridization to identify somatic copy number alterations and affected genes. METHODS AND RESULTS: Tumour DNA samples from primary (parotid salivary gland) and secondary (scalp skin) MPAs were subjected to array comparative genomic hybridization investigation, and the data were analysed with NEXUS COPY NUMBER DISCOVERY. The primary MPA showed copy number losses affecting 3p22.2p14.3 and 19p13.3p123, and a complex pattern of four different deletions at chromosome 6. The 3p deletion encompassed several genes: CTNNB1, SETD2, BAP1, and PBRM1, among others. The secondary MPA showed a genomic profile similar to that of the primary MPA, with acquisition of additional copy number changes affecting 9p24.3p13.1 (loss), 19q11q13.43 (gain), and 22q11.1q13.33 (gain). CONCLUSION: Our findings indicated a clonal origin of the secondary MPA, as both tumours shared a common profile of genomic copy number alterations. Furthermore, we were able to detect in the primary tumour a specific pattern of copy number alterations that could explain the metastasizing characteristic, whereas the secondary MPA showed a more unbalanced genome.

Leiomioma benigno metastizante: caso clínico con nodulos pulmonares e histerectomía 4 años antes por leiomiomas uterinos / Pulmonary benign metastasizing leiomyoma

Se presenta un caso de leiomioma pulmonar metastizante en una mujer de 48 años. El estudio histológico reveló múltiples nódulos pulmonares de musculatura lisa de aspecto benigno. El seguimiento a 8 años mostró una paciente en buenas condiciones generales sin síntomas respiratorios. La historia clínica reveló antecedentes de histerectomía cuatro años antes debido a múltiples leiomiomas. Se hace una revisión clínico patológica de los tumores musculares lisos uterinos en sus formas clásicas y en sus presentaciones inusuales.

A case of pulmonary benign metastasizing leiomyoma in a 48 years old female is presented. The histological study showed pulmonary nodules formed by smooth muscle cell of benign appearance. The 8 years follow up revealed a patient in a good fashion without respiratory symptoms. There was a 4 years history of previous hysterectomy due to multiple uterine leiomyomas. A clinico pathological review of the classical and unusual forms of smooth muscle tumors of the uterus is also presented.