Novel germline SDHD mutation: diagnosis and implications to the patient

A 54-year-old man presented with hypertensive crisis. He was found to have bilateral pheochromocytomas and left paraaortic sympathetic paraganglioma. Although he had no family history of paragangliomas or pheochromocytomas, he had been diagnosed with bilateral head and neck paragangliomas 10 years prior. The patient had symptoms of catecholamine excess exacerbated by vanilla ice-cream consumption. Biochemical testing revealed elevated plasma-free metanephrines and chromogranin A levels. Computed tomography showed bilateral carotid body tumors and four reteroperitoneal masses (two in the right adrenal, one in the left adrenal and one in the left paraaortic area). Metaiodobenzylguanidine-SPECT scans showed functional tumors in both the adrenal gland and left paraaortic area. Fluorine 18-fluorodeoxyglucose positron emission tomography did not show any visceral or skeletal metastasis. We carried out gene mutation analysis for succinate dehydrogenase complex subunit B, and succinate dehydrogenase complex subunit D. The patient was diagnosed with hereditary paraganglioma syndrome type 1 with a previously unreported subunit D mutation in exon 3 (c.198G > A, p.W66X). He was treated with phenoxybenzamine at 10 mg/day and with metoprolol at 12.5 mg/day. His blood pressures as well as symptoms of catecholamine excess were controlled. He then underwent bilateral adrenalectomy and reteroperitoneal dissection. His blood pressure normalized and he discontinued antihypertensive medications after surgery. He is currently on replacement therapy with hydrocortisone and fludrocortisone.     

Primary leiomyosarcoma of the fallopian tube

Primary sarcoma of the fallopian tube is a very rare neoplasm. We report the case of a 69-year-old woman affected with leiomyosarcoma of the left fallopian tube. Her chief complaint was lower abdominal pain. The preoperative diagnosis was a left adnexal malignant tumor based on pelvic examination, abdominal computed tomography, and magnetic resonance imaging. Following a laparotomy, she was ultimately diagnosed with a FIGO IIc fallopian tube leiomyosarcoma. She was treated with total abdominal hysterectomy, bilateral salpingo-oophorectomy, pelvic lymph node dissection, partial omentectomy, and low anterior resection for rectal invasion. The patient subsequently received adjuvant chemotherapy with pirarubicin and ifosfamide. Thirty months after the first therapy, a computed tomography scan revealed metastasis of the liver, lung, and supraclavicular lymph node. The patient died of the disease 39 months after the initial treatment.     

A case of adrenal metastasis of lung cancer treated by carboplatin and docetaxel]

A 42-year-old male was referred to our hospital in October 1998, suffering from severe cough accompanied by repeated hemosputa. Serum NSE slightly increased and cytology of sputum indicated class V. Chest X-P and CT revealed a large tumor in the right upper lobe and hilar lymphadenopathy. Abdominal CT revealed bilateral adrenal tumors. For continuous bloody sputum, a right upper lobectomy and lymphadenectomy were performed and the pathologic diagnosis was large cell carcinoma. After surgery, we chose radiation and chemotherapy. The new chemotherapeutic agent docetaxel (60 mg/m2 in combination with carboplatin (CBDCA: AUC 6,800 mg/m2) was administered, resulting in the remarkable reduction in the size of adrenal metastasis by 50% after 3 courses of chemotherapy. Furthermore, 12 months later, the right adrenal metastasis was remarkably reduced (5 x 3 cm-> 0.5 x 1.0 cm), and the left adrenal metastasis had disappeared on abdominal CT. These findings may suggest the efficacy of newly developed docetaxel in cases of non-small cell lung cancer.     

Bilateral breast metastases from ewing sarcoma of the femur

We report a case of bilateral breast metastases from Ewing sarcoma of the femur. A 40-year-old woman presented with Ewing sarcoma of the left thigh, treated by complete surgical exeresis and chemotherapy. Secondary, a large tumor appeared in the left breast. Bone scintigraphy, chest, and abdominal computed tomographic scan were normal. A breast biopsy found a malignant tumor composed of small round cells consistent with the initial diagnosis. After the first cycle of chemotherapy, a tumor was discovered in the controlateral breast. After 5 cycles, residual tumors persisted in the 2 breasts. Tumor exeresis was performed and found bilateral breast metastases of Ewing sarcoma. Because of the early recurrence of the left breast tumor, segmentectomy of the right breast and left mastectomy were performed. The histopathological analysis confirmed Ewing sarcoma metastases in the left breast. Despite local radiotherapy, the clinical course was marked by lumbar bone metastasis, local chest evolution, and progression of the disease. Metastases to the breast by extramammary malignant neoplasms are unusual. Sarcoma is an extremely rare cause of breast metastases and our case is the first report of breast metastases from Ewing sarcoma.     

F-18] fluorodeoxyglucose positron emission tomography as a tool for early recognition of incomplete tumor destruction after radiofrequency ablation for liver metastases

BACKGROUND AND OBJECTIVES: To assess the value of FDG positron emission tomography (PET) for early detection of incomplete tumor destruction after radiofrequency ablation (RFA) for liver metastasis. METHODS: Twenty-eight unresectable liver metastases in 17 patients were treated by RFA. Patients underwent computed tomography (CT) and FDG-PET preoperatively, at 1 week, 1 month, and 3 months postoperatively. Postoperative CT and FDG-PET at 1 week and 1 month were analyzed to identify hypervascular and hypermetabolic residual tumors at the RFA site. These results were correlated with follow-up CT and, in case of reintervention, with pathologic results. RESULTS: In 24/28 of RFA-treated metastases, CT and FDG-PET at 1 week and 1 month showed no tumor residues. During follow-up, none of these 13 patients developed local recurrence at RFA site. In four patients, FDG-PET at 1 week and 1 month showed peripheral hypermetabolic residue after RFA, whereas CT did not revealed residual tumor. In three patients, local persistence of viable tumor cells was biopsy-proven at reintervention. In the fourth, follow-up CT showed subsequent development of a local recurrence. CONCLUSIONS: FDG-PET accurately monitors the local efficacy of RFA for treatment of liver metastases, as it early recognizes incomplete tumor ablation, not detectable on CT.     

An unusual case of three synchronous tumors in a young woman

The occurrence in the same young patient of three synchronous tumors deriving from different embryogenic tissues and without a clear correlation with a common etiopathogenic factor is very unusual. We report a case of a Caucasian woman submitted to wide resection of a large retroperitoneal liposarcoma and right radical nephrectomy for suspected tumor infiltration. Histological examination of the right ureter and renal pelvis showed the presence of a multifocal urothelial carcinoma that was clinically asymptomatic. Two months later, during follow-up, chest X-ray and computed tomography documented a coin lesion of the upper left lung, confirmed by positron emission tomography. This nodule was surgically removed and examined histologically, resulting in a diagnosis of sclerosing hemangioma. The patient is alive without evidence of recurrent disease.     

Metastasis to gallbladder and adrenal gland of renal cell carcinoma

We studied a case of metastasis to the gallbladder and left adrenal gland of clear cell-type renal cell carcinoma (RCC) in the right kidney. A polypoid gallbladder tumor and left adrenal mass were found 2 years after surgery for clear cell-type RCC in a 50-year-old man. The gallbladder tumor and left adrenal mass showed hypervascularity on diagnostic imaging. Systemic image screening showed no other metastatic lesion. Simple cholecystectomy and left adrenalectomy were performed. A histopathological examination showed tumor cells in a gallbladder polyp. Furthermore, based on various specific and immunohistochemical studies, the patient was pathologically diagnosed to have gallbladder and right adrenal gland metastasis of clear cell-type RCC.     

Case report--a patient who has survived more than 4 years with repeated resection for bilateral adrenal metastasis from hepatocellular carcinoma

We report a patient with bilateral adrenal metastasis from hepatocellular carcinoma (HCC) who has survived for a long period as a result of repeated resection. A 55-year-old male patient with C type hepatitis underwent transcatheter arterial chemo-embolization (TACE) for HCC in November 1997. There was no recurrence in the liver, but left adrenal metastasis was detected in January 1998, followed by right adrenal metastasis in November 1998. We performed surgical resection for bilateral adrenal metastasis in March 1999. The histological diagnosis was well approximately moderately differentiated hepatocellular carcinoma. A recurrence in the right adrenal gland was detected eight months later. As there was no distant metastasis, we performed re-operation in December 1999. Recurrence in the liver was detected in October 2000 and was treated by TACE. He has survived more than 4 years since the first detection of adrenal metastasis. We conclude that surgical treatment is useful for patients with adrenal metastasis who have no distant viable lesion.     

Solitary Adrenal Metastasis in a Patient with Sigmoid Colon Cancer; Report of a Case

A 73-year-old man had sigmoidectomy for sigmoid colon cancer in December 2001. Although he was followed regularly with chemotherapy, his serum carcinoembryonic antigen (CEA) increased on August 2002. Abdominal computed tomography and magnetic resonance imaging showed a right adrenal mass and no other abnormality. The preoperative diagnosis was a solitary adrenal metastasis from sigmoid colon cancer; the lesion was removed in September 2002. On pathology, adrenal metastasis was confirmed. Although the patient’s serum CEA normalized soon thereafter, 12 months after adrenalectomy, the CEA again increased; the patient had local recurrence of the resected adrenal lesion and liver metastasis. Therefore, the patient was given systemic chemotherapy, but his condition deteriorated, and he died 38 months after adrenalectomy. Adrenal metastasis from colorectal cancer is not unusual; however, a solitary metastasis is rarely found and resected surgically. As surgical treatment of the metastatic lesion could improve patients’ prognosis to some extent if it is detected early, the possibility of adrenal metastasis should be kept in mind when colorectal cancer patients are followed.     

A case of non-functioning adrenocortical tumor

A resected case of a non-functioning adrenocortical tumor is reported. The patient's chief complaint was fever and general fatigue. Computed tomography and ultrasonography revealed the suspected presence of a tumor on the right lobe of the liver, though a definite diagnosis of a right adrenal tumor was reached after hepatic angiography. An endocrinal examination, however, showed no abnormality. The tumor was dissected sharply from the right hepatic lobe and completely removed with a part of the diaphragm. It measured 10 x 12 x 18 cm and weighed 1,280 g. Hemorrhagic and necrotic changes were noted in the cut section, and a subsequent pathological examination revealed an adenocarcinoma of the adrenal cortex. An administration of 5-FU was given orally and the patient's progress has gone well without a recurrence or a metastasis for 4 years and a month since the surgery.     

Adrenal glands metastases from malignant melanoma. Laparoscopic bilateral adrenalectomy

Adrenal metastases from Malignant Melanoma (MM) represent a debated therapeutical problem particularly in the case of disseminated disease. Surgical treatment, however, seems to be able to provide improvement on survival. Laparoscopic adrenalectomy is considered a gold standard procedure in benign adrenal disease but its value in malignancy, in terms of oncological effectiveness, is not known. A case of bilateral adrenal malignant melanoma metastases is reported. The patient, affected by superficial spreading melanoma of the right foot, eleven years after the primary developed a right adrenal metastasis. The relapse was treated by laparoscopic right adrenalectomy. One year later the patient had a new metastasis in the left adrenal gland and was submitted to laparoscopic left adrenalectomy. The two step laparoscopic bilateral adrenalectomy showed to be quite easy to perform, providing a complete removal of the whole glands, without adrenal tissue crushing and without neoplastic tissue dissemination in abdominal cavity. The postoperative course was excellent and the patient was discharged within about 72 hours after the two procedures. In literature only few reports indicate the feasibility of laparoscopic adrenalectomy for malignancy. In the reported case of malignant melanoma metastasis, minimally invasive adrenalectomy was very satisfactory and the good results obtained suggest its routine use.     

Leiomyosarcoma of the Pancreas: Report of a Case Diagnosed by Fine Needle Aspiration Biopsy

We present a case of pancreatic leiomyosarcoma with liver metastasisdiagnosed by liver tumor biopsy. A 66-year-old man had a pancreatictumor and hepatic tumors, which were hypoechoic and mixed echoicon ultrasonography, respectively. They were stained in enhancedcomputed tomography and angiography. A fine needle aspirationbiopsy of the liver tumor was performed, and the pathologicalexamination of the biopsied specimen suggested the tumor cellsto have originated from smooth muscle. Under a diagnosis ofpancreatic leiomyosarcoma with liver metastasis, the patientwas treated with several anticancer agents. The tumor, however,spread to multiple organs and he dies of the disease two yearsnine months after the start of treatment. The diagnosis of pancreaticleiomyosarcoma was confirmed by autopsy.     

Mixed germ cell tumors with abundant sarcomatous component in the temporal lobe after radiochemotherapy of neurohypophyseal germinoma: a case report

We report a case of intracranial germ cell tumor that showed pathological changes from neurohypophyseal germinoma to mixed germ cell tumors consisting exclusively of undifferentiated sarcomatous component after radiochemotherapy. Three surgical specimens and autopsied brain from the patient were histologically examined. An initial specimen from the neurohypophyseal tumor was diagnosed as germinoma with a two-cell pattern. Five years later, after repeated radiochemotherapy, the second specimen resected from the right temporal lobe showed mixed germ cell tumors consisting of the three components of germinoma, choriocarcinoma, and immature teratoma. Six months later after intensive radiotherapy, the right temporal tumor recurred and was surgically removed. The histological diagnosis was mixed germ cell tumors with abundant immature teratoma component. The patient died of uncontrollable tumor growth with repeated intratumoral hemorrhages. The autopsied brain showed sarcoma with angionecrosis. This pathological alteration indicated an increase in the sarcomatous component after undergoing various treatments. We discuss the histological changes of intracranial germ cell tumor modified by treatment.     

转移性肾上腺癌的临床治疗（附15例报告）

目的:分析我院收治的15例肾上腺转移性恶性肿瘤的临床资料，结合文献复习，总结临床诊治体会。方法:回顾性分析我院2011年1月至2019年5月收治的15例肾上腺转移性恶性肿瘤患者的临床资料。男12例，女3例；平均年龄为63岁(53～73岁)。肾上腺转移瘤的最大径中位值为4.4 cm（2.0~9.8 cm），左侧11例，右侧3例，双侧1例。原发恶性肿瘤来源:肺7例，肝3例，肾2例，子宫1例，胰腺1例，腹膜后肿物1例。本研究中15例肾上腺转移恶性肿瘤为原发肿瘤确诊后诊断，距离原发肿瘤诊断的中位时间为15.6个月(5~28个月)。15例患者均行手术切除治疗。结果:术后病理细胞类型:腺癌4例，肝细胞癌3例，透明细胞癌2例，弥漫性大B细胞瘤2例，神经内分泌癌1例，癌肉瘤1例，肺小细胞癌1例，肺大细胞癌1例。术后定期随访患者，15例患者生存4~78个月。患者最终死于肿瘤广泛转移。结论:我院肾上腺转移性恶性肿瘤的原发肿瘤以肺癌最为常见，多数转移瘤在定期复查中无意发现。我院肾上腺转移瘤以左侧多见。肾上腺转移瘤治疗方式有手术治疗、介入治疗、经皮肿瘤消融、免疫治疗、放疗和化疗等。     

Primary adrenal leiomyosarcoma with inferior vena cava thrombosis

We report a primary adrenal leiomyosarcoma in a 59-year-old man. Computed tomography demonstrated a poorly enhanced mass, measuring 10cm, between the left kidney and the normal left adrenal gland, with tumor thrombus in the inferior vena cava (IVC). The patient underwent left radical nephroadrenalectomy with IVC thrombectomy. The histological diagnosis was adrenal leiomyosarcoma. Adrenal leiomyosarcomas are extremely rare. Only seven cases have been reported previously in the English-language literature.     

Myoepithelial carcinoma of the parotid gland with bilateral thyroid involvement: A case report and review of the literature

A patient was admitted to hospital with enlarged lobes of the thyroid gland with bilateral cervical lymph node involvement, and surgical excision followed. Histological examination of this specimen revealed a lesion that showed myoepithelial cell differentiation. Primary thyroid and skin appendage tumors were excluded based on clinical examination, conventional histology and immunohistochemistry. A tumor of the right parotid surgically treated in June 2008, approximately 2 years previously, was originally classified as a basal cell adenocarcinoma with focal invasion, but was re-examined. Using immunohistochemistry, the parotid tumor was re-classified as a myoepithelial carcinoma. The thyroid tumor proved to be metastasis from a primary parotid tumor, which was not found in the updated review of the literature. The literature is reviewed, including current knowledge on the histological and immunohistochemical features of myoepithelial carcinoma, with limited data on treatment suggestions.     

Characterization of giant marker and ring chromosomes in a pleomorphic leiomyosarcoma of soft tissue by spectral karyotyping

Pleomorphic leiomyosarcoma of soft tissue is relatively rare and its cytogenetic and molecular genetic data are scarce. We present a case of pleomorphic leiomyosarcoma arising in the left thigh of a 60-year-old man. Fluorine-18-deoxyglucose positron emission tomography imaging showed a homogenously high uptake within the mass in the proximal left thigh (maximum standardized uptake value, 20.9). Following a core needle biopsy, wide resection of the tumor was performed. Histologically, the tumor was composed of a mixture of spindle cells, polygonal cells and bizarre giant cells forming interlacing bundles and a storiform pattern. Immunohistochemically, the tumor cells were positive for vimentin, smooth muscle actin and desmin. The MIB-1 labeling index was 19.7% in the highest spot. Cytogenetic analysis exhibited a complex karyotype with several numerical and structural alterations, including giant marker and ring chromosomes. Spectral karyotyping demonstrated that giant marker and ring chromosomes were composed of material from the X chromosome. Metaphase-based comparative genomic hybridization analysis showed high-level amplifications of 1q21-q25 and 12q13-q21 and gains of 1p31-p32, 10p11-p13, 17p11 and 19p13. The patient received postoperative adjuvant radiotherapy and doxorubicin-based chemotherapy. No local recurrence or distant metastasis was detected during a follow-up period of 19 months. The clinicopathological, cytogenetic and molecular genetic features of pleomorphic soft tissue leiomyosarcoma are discussed.     

Metastatic gastric tumor from renal cell carcinoma

Metastatic tumors of the stomach are rare, with an incidence of 0.2%–0.7%, and they have been reported to result mainly from primary breast cancers, lung cancers, and melanoma. Further, among such metastatic tumors, the metastasis of renal cell carcinoma (RCC) to the stomach is an extremely rare disease, and it is usually reported in autopsy series. We report a rare case of metastatic gastric tumor derived from right renal carcinoma. Gastric endoscopy confirmed a large, polypoid, friable mass (type 1 tumor, about 7 cm in diameter) in the middle part of the stomach body. The mass was surgically excised and pathological examination showed that the gastric tumor was derived from a metastasis from the right kidney, because it was composed of malignant cells that were identical to those from the removed RCC. In addition, the tumor cells were immunoreactive for CD10, CD15, Ecadherin, early membrane antigen (EMA), and vimentin, but no reactivity was observed for cytokeratins 7 and 20 or c-KIT. Although gastric metastatic tumor derived from renal carcinoma is rare, the precise pre- and postoperative diagnosis may be important; thus, investigation for such metastatic tumors should be performed routinely in the follow up of patients who have been treated for RCC.     

Tumor laterality in early ovarian cancer: influence on left-right asymmetry of pelvic lymph nodes

AIM AND BACKGROUND.:To determine whether left-right asymmetry was present in cases of early ovarian cancer and whether or not the difference between number of removed lymph nodes on both sides of the pelvis is associated with tumor laterality. METHODS AND STUDY DESIGN: We extracted from the medical data base cases of early ovarian cancer with lymphadenectomy who had been treated between 1994 and 2008. The sample was divided in three groups according to the left-right laterality of the tumor in the pelvis (bilateral, left sided, right sided). For each case, we subtracted the number of dissected lymph nodes on the left side from the number of dissected lymph nodes on the right side of the pelvis (N(Right side) - N(Left side)). We used one sample t test to determine whether the mean of differences for each group was different from zero. Results. We extracted 48 cases with early ovarian cancer who had undergone lymphadenectomy. The average number of dissected lymph nodes was 24 (SD, 12). In 3 cases, we confirmed the presence of lymph node metastasis (6.3%). In 2 of the upstaged cases, tumor and involved lymph nodes were on the right side of the pelvis. In the third case, the tumor was on the left side, whereas involved lymph nodes were on both sides of the pelvis. For bilateral tumors, tumors on the left, and those on the right side of the pelvis, the mean difference was -0.5 (95% CI, -9.9 to 8.9; t, -0.137; P = 0.90), 0.32 (95% CI, -3.8 to 4.5; t, 0.16; P = 0.87) and 3.5 (95% CI, 0.03 to 7.01; t, 2.09; P = 0.048), respectively. CONCLUSIONS: When the tumor was on the left or on both sides of the pelvis, there was no significant difference in the number of removed lymph nodes. In contrast, when the tumor was on the right side, the number of removed lymph nodes was significantly higher on the right hemipelvis than on the left hemipelvis.     

Effect of radiation-induced injury of tumor bed stroma on metastatic spread of murine sarcomas and carcinomas

The study was performed to determine whether irradiation of the tumor bed alters the propensity of tumors to metastasize, and if so, whether the effect is dependent on the property of tumors to exhibit the tumor bed effect (TBE). Ten tumors, of which 5 were sarcomas and 5 were carcinomas syngeneic to C3Hf/Kam mice, were used. Tumors were grown s.c. in the right thighs of mice that had or had not been irradiated with 20-Gy gamma-rays 1 day before tumor cell transplantation. All 5 carcinomas and 2 of 5 sarcomas exhibited TBE, as assessed by a significant retardation of growth rate. To test whether irradiation of the tumor bed influenced metastatic spread independently of TBE, tumors of various sizes were surgically removed, and at appropriate times thereafter the lungs were examined for the presence of metastases. All tumors that exhibited TBE, and only 1 of 3 tumors that did not exhibit TBE, metastasized more than tumors of the same size growing in an unirradiated tumor bed. TBE-induced enhancement of metastasis was not seen in tumors less than approximately 7 mm in diameter. All tumors, whether they exhibited TBE or not, were more necrotic if they grew in a preirradiated tumor bed. These observations show that size for size, most tumors growing in irradiated tissues have an increased propensity to metastasize, which is linked to their manifestation of TBE. The evidence presented suggests that TBE-induced retardation of tumor growth is the major factor responsible for the observed enhancement of metastasis. The clinical implication of these findings is that tumors recurrent after radiotherapy should be diagnosed and treated promptly to reduce the risk of metastatic spread.