Primary testicular osteosarcoma with hydrocele

Primary testicular osteosarcoma is an extremely rare malignancy. To date, only two cases have been reported. Here, we report a third case of primary testicular osteosarcoma complicated with hydrocele. A 78-year-old man presented with right scrotal swelling. Ultrasonography revealed hydrocele and a testicular heterogeneous solid mass with focal calcification in the right testis. Right inguinal orchiectomy revealed a pure intratesticular osteosarcoma. Retroperitoneal lymph-node dissection revealed no metastasis. Thorough sampling of the tumor failed to show any additional histological components. It is unlikely that our case arose from teratoma or mixed sex-cord/stromal tumor, because no other neoplastic elements were identified in whole sampling of the tumor. He remained well without evidence of disease 44 months after operation. This case illustrates that primary pure testicular osteosarcoma may be associated with a favorable prognosis.     

Long-Surviving Patients with Recurrent GIST after Receiving Cytoreductive Surgery with Imatinib Therapy

In the treatment of recurrent or metastatic gastrointestinal stromal tumors (GIST), good prognoses may not be expected by surgery alone. Recently, imatinib has been applied for the treatment of GISTs, resulting in improved patient survival. However, long-term success is limited due to the development of resistance. Herein, we report two cases of long-surviving patients with recurrent GIST after receiving cytoreductive surgery with imatinib therapy. A 49 year-old man was diagnosed to a duodenal GIST with single hepatic metastasis, and an antrectomy including the duodenal lesion with intraoperative radiofrequency ablation were performed in April, 2002. After four months, a new metastatic hepatic lesion was identified. Percutaneous radiofrequency ablation was done, and imatinib therapy was started. A 56 year-old man underwent laparoscopic segmental resection of the distal ileum and partial excision of parietal peritoneum in March, 2001 to treat a malignant GIST of the distal ileum that was attached to parietal peritoneum. After six months, recurrence of GIST with peritoneal seeding and hepatic metastasis was found, and he underwent cytoreductive surgery including right hemicolectomy and wedge resection of liver. After surgery, there was no residual tumor grossly and imatinib therapy was started. In both cases, they were doing well with no evidence of recurrence for 5 years with imatinib therapy. Therefore, in patients with a recurrent GIST, improved survival can be expected with imatinib therapy after cytoreductive surgery.     

Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia

Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor. In scrotal ultrasound, a mixed type mass lesion (6 × 4x3 cm) covering a large part of left testis was observed. The imaging findings were consistent with adrenal rest tumor. The patient took adrenocorticotropic hormone supressive therapy with dexamethasone 0.75 mg once a day. Patient 2, 38 year-old male, he had been followed-up as adrenal insufficiency for 35 years. He underwent right orchiectomy operation due to the testicular mass in 2010 and the pathological examination revealed Leydig cell tumor. In scrotal ultrasound, small multifocal lesions were detected on the left testis and resection was done. It was reported as testicular adrenal rest tumor. He is being followed-up with glucocorticoid treatment according to androgen and adrenocorticotropic hormone levels. Early diagnosis of testicular adrenal rest tumor is significant in preventing irreversible testicular damage and infertility. In the differential diagnosis, we should keep in mind that testicular adrenal rest tumor can mimic other testicular tumors such as primary germ cell tumors.     

Testicular metastasis of primary cecal carcinoid tumor

Testicular carcinoids are rare and the majority are of primary testicular origin. Testicular carcinoids can also be secondary from extra-testicular primary tumors, but the incidence is even less common. The case described here is a patient who initially had an infiltrating cecal carcinoid with hepatic metastasis. Following surgery, he was managed with octreotide and had close monitoring of the levels of serum serotonin and its urinary metabolite. He experienced a fairly indolent clinical course and 5 years after excision of the primary cecal carcinoid, his hepatic lesion has virtually been unchanged. However, he developed a secondary testicular metastasis. He has otherwise remained well, without evidence of metastases elsewhere on imaging studies.     

Mesothelioma of the tunica vaginalis testis: report of 2 cases with asbestos occupational exposure

We report here 2 cases of malignant mesothelioma of the tunica vaginalis testis. A 67-year-old man with a left testicular mass was referred for left inguinal orchidectomy. Histologic examination showed a malignant mesothelioma of epithelial type. There is no evidence of recurrence at 2-year follow-up. The patient had been exposed to asbestos 12 years previously for a 30-year period. An 80-year-old man presented a 5-year history of scrotal swelling. Clinical examination revealed a hydrocele. The patient underwent resection of the tunica vaginalis through scrotal incision. Microscopic examination showed a malignant mesothelioma of biphasic type. There is no evidence of recurrence at 2-year follow-up. The patient had been exposed to asbestos 52 years previously for a 5-year period.     

Gynecomastia-like lesions in the female breast

CONTEXT: Gynecomastia is an abnormal enlargement of the male breast, but the histopathologic abnormalities could theoretically be present in female breasts as well. To my knowledge, however, there have been no reports in the literature to date that have attributed a clinically or radiologically detectable mass in a female breast exclusively to the histopathologic findings seen in gynecomastia. OBJECTIVE: The clinical, radiologic, and histopathologic findings of 4 patients with lesions composed exclusively of the findings of gynecomastia, herein termed gynecomastia-like lesions, are presented and compared with those of 3 patients with lesser degrees of these changes, herein termed gynecomastia-like areas, which were incidental accompaniments to other lesions. SETTING: During a 26-month interval, 1242 breast excisions (excluding needle biopsies or aspirates) were examined in a 170-bed, acute-care, community-medical school teaching hospital. RESULTS: Four patients had gynecomastia-like lesions varying from 1 to 3 cm in greatest dimension with histopathologic features showing the changes of gynecomastia exclusively. Two patients had clinically palpable masses. Two other patients had masses detected only by mammography. One postmenopausal patient was taking estrogen/progesterone replacement medication. Two of the 3 others were not taking birth control pills, and none had a clinical endocrinopathy. Thus far, none of the lesions have recurred. The 3 patients with gynecomastia-like areas were diagnosed separately with infiltrating ductal carcinoma, fibroadenoma, and lipoma. CONCLUSIONS: Pathologists should be aware that clinically palpable or radiologically detected masses in female breasts may be composed exclusively of the histopathologic findings of gynecomastia.     

H-Y antigen mosaicism in the gonad of a 46,XX true hermaphrodite

To clarify the mechanism for the coexistence of ovarian and testicular tissue in the 46,XX true hermaphrodite, we studied a 20-year-old phenotypic male with gynecomastia and elevated serum concentrations of estradiol in whom an ovotestis was discovered upon scrotal exploration. Y chromosomal material could not be detected by fluorescent Y-body analysis or Giemsa-banding technics in cells cultured from peripheral blood, breast or forearm skin or the ovarian or testicular portions of the ovotestis. However, serologic testing, using the sperm cytotoxicity assay, revealed that cells cultured from the testicular portion of the ovotestis were H-Y antigen positive whereas cells cultured from the ovarian portion were H-Y antigen negative. These observations indicate that the ovotestis arises from an H-Y+/H-Y- mosaic primordium.     

Chronic myelogenous leukemia in the chronic phase with lymph node swelling which represented extramedullary involvement composed of cells at different stages of maturation

In chronic myelogenous leukemia (CML), lymph node swelling is generally considered an early sign of blast crisis. We encountered a rare case of CML showing marked lymph node swelling, which represented extramedullary involvement composed of cells at different stages of maturation but not showing blast crisis. In 1996, a 60-year-old Japanese male was diagnosed with CML in the chronic phase, and imatinib mesylate was prescribed following interferon-alpha treatment in 2004. However, the patient chose to discontinue out patient treatment 1 year later. He was referred to our hospital because of severe fatigue in August 2006, and laboratory tests showed a WBC count of 347.9 x 10(9)/l with 6.5% blasts. On bone marrow tests, Ph chromosome presence was found in all cells examined, but there was no additional chromosomal abnormality. Cytogenetic analysis revealed that 82% of cells in on employing FISH showed BCR/ABL. The patient had swelling of the left cervical and both inguinal lymph nodes. A lymph node biopsy showed proliferation in three lineages of hematological cells at different stages of maturation. He was diagnosed with CML in the chronic phase. He was given imatinib mesylate and hydroxyurea, and achieved hematological remission. Sixteen months later, he developed blast crisis and died of cerebral hemorrhage. Such a case of extramedullary involvement composed of cells at different stages of maturation is rare, and suggests the need to biopsy extramedullary tumors in order to evaluate the clinical phase.     

Role of ultrasonography in diagnosis of scrotal disorders: a review of 110 cases

Objective

To determine the role of ultrasonography in diagnosis of scrotal disorders.

Materials and methods

This study was carried out after institutional review board approval was granted, and informed consent was waived. Between January 2005 and January 2007, 144 patients aged 12 years and older with scrotal symptoms, who underwent scrotal ultrasonography (US), were retrospectively reviewed. The clinical presentation, outcome, and US results were analysed. The presentation symptoms were divided into three groups including scrotal pain, painless scrotal mass or swelling, and others. Surgery was performed in 32 patients.

Results

Of 144 patients, 110 had clinical follow-up and constituted the material of this study. The patients ranged in age from 13 to 82 years (mean 38.6 years). Of 110 patients, 84 (76.4%) presented with scrotal pain, 21 (19%) had painless scrotal mass or swelling and 5 (4.5%) had other symptoms. Of the 84 patients with scrotal pain, 52 had infection, 4 had testicular torsion, 7 had testicular trauma, 10 had varicocele, 4 had hydrocele, 1 had epididymal cyst, 1 had scrotal sac and groin metastases, and 5 had unremarkable results. Of the 21 patients who presented with painless scrotal mass or swelling, 18 had extratesticular lesions and 3 had intratesticular lesions. All the extratesticular lesions were benign. Of the 3 intratesticular lesions, one was due to tuberculous epididymo-orchitis, one was non-Hodgkin’s lymphoma, and one was metastasis from liposarcoma. Of the 5 patients who presented with other symptoms, 4 had undescended testes, and 1 had gynaecomastia. US gave incorrect diagnosis in only one patient with scrotal pain.

Conclusion

The most common cause of scrotal pain was infection. The most common cause of scrotal mass or swelling was extratesticular lesion. US plays an important role in the diagnosis of scrotal disorders and in planning for proper management.     

Diffuse fibrous pseudotumor of the testicular tunics associated with an inflamed hydrocele

Fibrous pseudotumors of the testicular tunics and paratesticular soft tissue are uncommon lesions. They typically arise as painless scrotal masses that may be associated with a hydrocele or history of trauma or infection. Although these lesions are clinically worrisome for a malignant neoplasm, they are thought to be reactive in nature, since they are composed of dense fibrous tissue with interspersed bland fibroblasts and myofibroblasts and mixed inflammatory cells. Once excised, these lesions behave in a benign fashion. Typically, these masses are multinodular, but in rare cases they are diffuse, bandlike myofibroblastic proliferations that encase the testis and are termed fibromatous periorchitis. Herein, we describe a 57-year-old man with a diffuse fibrous pseudotumor/fibromatous periorchitis that encased the left testis and adnexa and arose in close apposition to an inflamed hydrocele.     

Self inflicted, bilateral oleogranuloma of the breast: report of a bizarre case

A 30-year-old male was admitted with bilateral painful breast enlargement of 6 months duration. There was a past history of surgery for similar bilateral swellings, which was then diagnosed as fibrocystic disease. On examination both breasts were firm to hard, tender & adherent to deeper structures. A single axillary lymph node was palpable on each side. The clinical diagnosis was sarcoma of the breast. After initial denial, the patient confessed to having injected gear oil into both the breasts,for the purpose of augmentation. He was a homosexual.     

A case of large cell calcifying Sertoli cell tumor in a child with a history of nasal myxoid tumor in infancy

A case of an 8-year-old Japanese boy with a testicular large cell calcifying Sertoli cell tumor (LCCSCT) is presented. This report appears to be the first Japanese case of LCCSCT. The patient presented with left testicular swelling and gynecomastia. His family history was not contributory; however, his past history was remarkable for a benign myxoid tumor in the nasal cavity, which was removed at the age of 2 months. After removal of the testicular tumor, the gynecomastia disappeared gradually and no recurrence or metastasis developed during a 15 month follow-up period. Although the tumor was initially interpreted as a Leydig cell tumor, a review of the slides after the patient's past history of nasal myxoid tumor was revealed led us to the diagnosis of LCCSCT. An accurate diagnosis of LCCSCT is crucial because this tumor is occasionally associated with Carney complex, which can comprise various pathological conditions, including cardiac myxoma, that may be life-threatening. Myxoma of Carney complex has been described to occur in the heart, skin, oral cavity and breast in a wide age range, but there have been no reports referring to nasal myxoid tumor associated with Carney complex.     

Hypopigmentation in an African patient treated with imatinib mesylate: a case report

Imatinib mesylate (STI 571, Gleevec) is a potent bcr-abl tyrosine kinase inhibitor. It also inhibits c-kit tyrosine kinase. Imatinib mesylate is active in the treatment of cronic myeloid leukemia (CML) and gastrointestinal stromal tumors (GIST). It is considered by some authorities to be the standard of care in newly diagnosed CML as well as patients in chronic phase who do not have a related match. C-kit and its ligand stem-cell factor regulate melanocyte development and survival. Hypopigmentation in patients receiving imatinib mesylate for CML has been reported recently. In this article, we report a black Nigerian male with GIST, who developed hypopigmentation of distal parts of digits, as well as generalized lightening of skin on the body three months after receiving imatinib mesylate. We believe that this is the first case of hypopigmentation reported in a black patient with GIST.     

PARATESTICULAR RHABDOMYOSARCOMA

Two cases of paratesticular rhabdomyosarcoma were reported. One was a 53-year-old male, who was admitted to the Hospital because of swelling of the scrotum, hemosputa, and complete left hemiplegia. Clinical diagnosis was testicular tumor with remote metastases to lung, brain, liver, and paraaortic lymph nodes. At operation, tumor of 340 g of the paratesticular appendage was removed. Pathological findings of the tumor revealed rhabdomyosarcoma of mixed pleomorphic and embryonal types. The other was a 32-year-old male, who was admitted to the Hospital because of left inguinal and scrotal masses. The patient had a history of bruise at the left inguinal region about 5 years prior to admission. An orchiectomy and an excision of the inguinal tumor were performed. Histologically, the tumor was rhabdomyosarcoma of pleomorphic type. Clinical and pathological features of this rare tumor were discussed with a review of literature.     

Tuberculous epididymo-orchitis mimicking a testicular tumour: a case report

Introduction

Isolated tuberculous epididymo-orchitis may closely mimic testicular tumour particularly in patients with no history of systemic TB thereby presenting a diagnostic and treatment challenges.

Case report

A 44-year old man presented with 4 months history of left scrotal mass and had left orchidectomy following a presumptive diagnosis of testicular tumour. Histopathological diagnosis of testicular tuberculosis was subsequently made. Although the patient was thereafter referred for antituberculosis treatment at the local tuberculosis treatment centre, he defaulted after commencing treatment.

Conclusion

Adequate evaluation of patients with testicular mass by means of abdominal and scrotal ultrasound coupled with fine needle aspiration cytology is critical to diagnostic accuracy, optimal treatment and possibility of avoiding surgery in those with testicular tuberculosis.     

GIST under imatinib therapy

The prognosis of patients with a GIST improved significantly since the introduction of imatinib mesylate treatment, leading to disease control in 70% to 85% of patients. The response depends on the presence/ absence and type of mutations in the KIT or Platelet derived growth factor receptor. Unfortunately, we are increasingly faced with the problem of resistance to imatinib treatment, mainly secondary resistance, which by definition occurs after at least 6 months of initial response to the drug. The effects of imatinib on a GIST are still in full exploration and this review focuses upon the available data on the phenotype and genotype of a GIST treated with imatinib. Two settings are elaborated separately, a responding/stable GIST, and a resistant GIST. In addition, the attention will be drawn to remarkable (immuno)phenotypic changes that can occur in a GIST under imatinib treatment.     

Pre-operative imatinib treatment of gastrointestinal stromal tumour (GIST) abolishes immunostaining for c-kit – A pitfall for the unwary pathologist

Gastrointestinal stromal tumour (GIST) is a neoplasm of the gastrointestinal tract, mesentery, or omentum that expresses the protein-tyrosine kinase KIT (CD117) and is the most common mesenchymal tumour arising at these sites.With the availability of effective but expensive treatment in the form of imatinib, accurate diagnosis of gastrointestinal stromal tumour (GIST) is extremely important.We describe a case of a 64 year old male with biopsy proven GIST of the gastric cardia which was unequivocally positive for CD117 and CD34. We subsequently received his proximal gastrectomy specimen containing an ulcerated tumour in the gastric cardia which was positive for actin and desmin, but did not express CD117, CD34, S100 or bcl-2. The case was therefore misdiagnosed as a typical leiomyoma rather than a GIST. It was recognized at a subsequent clinicopathological meeting that the patient had been treated with imatinib post-biopsy but pre-operatively unbeknown to the pathologist reporting the gastrectomy specimen who therefore misdiagnosed as a typical leiomyoma.     

Paratesticular malignant peripheral nerve sheath tumour: a case report

Primary malignant peripheral nerve sheath tumours (MPNST) of intrascrotal extra testicular site are extremely rare with only few cases reported in literature. These are highly malignant tumours most often associated with neurofibromatosis. The incidence in general population is 0.001%. A 35-year-old male presented with swelling of the scrotal sac of three months duration. There were no features of neurofibromatosis. The lesion was excised and was diagnosed as MPNST. The patient developed recurrence within two months.     

A case of food-dependent exercise-induced anaphylaxis caused by various foods which contained flour for thirty years]

The patient was a 65-year-old man with chief complaints of flare, swelling, itching and loss of consciousness. He had a history of diabetes diagnosed at the age of 34 years and was receiving medication from a local doctor. He had experienced systemic flare, swelling and loss of consciousness 20 minutes after drinking beer at a party at the age of 34 years. Since that time, he had frequently experienced urticaria and loss of consciousness while taking a walk after eating various foods (all of which contained flour). In February 2001, he experienced systemic flare, swelling and loss of consciousness when he returned home from a walk after eating a meal that included meat dumplings. Laboratory tests on admission showed a serum IgE level of 253 IU/ml, and the IgE level for flour in a RAST was 2.13 UA/ml (class 2). The results of exercise tolerance tests were normal during fasting, after ingestion of food that did not include allergens (wheat, shrimps and crab) and after ingestion of half of a thick slice of white bread, but systemic wheal and flare reactions appeared during an exercise tolerance test after ingestion of one thick slice of white bread. A diagnosis of food-dependent exercise-induced anaphylaxis caused by flour was made on the basis of the results.     

胃肠道间质瘤患者伊马替尼血药浓度的监测及意义

胃肠间质瘤（GIST）是消化道常见的间叶源性肿瘤,多发生于胃部,其免疫组化CD117及DOG-1常表达阳性,介导Kit基因突变是导致该病的主要机制。伊马替尼是一种酪氨酸酶抑制剂,可以很好的抑制c-Kit的活性,作为复发、不可切除或者晚期的GIGT患者一线用药甲磺酸伊马替尼,它已被证实是治疗中晚期GIST患者最有效的药物,可以显著改善预后。在常规的治疗过程中,伊马替尼的血药浓度在不同的GIST患者中存在很大差异,既有血药浓度不足导致疗效较差,也有血药浓度过高导致不良反应太大,血药浓度的监测对于提高患者的依从性及预后具有重要的意义。同时我们也可以通过马替尼血药浓度的检测去探究疾病的原因,然而对于甲磺酸伊马替尼血药浓度的监测主要集中在国外,国内相关研究甚少。本文从伊马替尼的药代动力学、伊马替尼血药浓度的现状及问题、监测的意义等方面进行综述,探讨伊马替尼血药浓度的监测对GIST患者的意义。