卵巢幼年性粒层细胞瘤伴Maffucci综合征

目的 探讨幼年性粒层细胞瘤和Maffucci综合征的临床病理特征及两者伴发的原因。方法 对1例伴Maffucci综合征的幼年性粒层细胞瘤进行HE、组织化学及免疫组织化学染色观察,并复习文献。结果 幼年性粒层细胞瘤多发生于20岁以下患者,儿童患者常表现为青春期前假性性早熟,生育期妇女常表现为月经紊乱。组织学上具特征性滤泡结构,丰富的嗜酸性或空泡化胞质,无核沟及Call—Exner小体,核分裂象多见。Inhibin免疫组化染色有助于诊断和鉴别诊断。Maffucci综合征为先天性软骨发育异常,易合并恶性肿瘤。14例卵巢幼年性粒层细胞瘤伴Maffucci综合征或Ollier病中卵巢肿瘤和骨病变有同侧分布倾向。结论 幼年性粒层细胞瘤合并Maffucci综合征可能为系统性中胚叶发育异常所致。     

卵巢幼年型粒层细胞瘤8例临床病理分析

目的 探讨卵巢幼年型粒层细胞瘤(juvenile granulosa cell tumor, JGCT)的临床病理特点、诊断及鉴别诊断.方法 回顾本院诊治的8例JGCT的临床、病理特征及免疫表型特点,并进行随访获知其预后情况.结果 8例JGCT患者发病年龄6～21岁,平均15.1岁.临床主要表现为腹部包块、腹水及女性假性性早熟.巨检表现为囊实性肿块.光镜下肿瘤细胞呈实性巢状,片状弥漫性排列,部分可排列成多个圆形或椭圆形大小不等的滤泡,少数可形成巨滤泡结构,有的滤泡腔内还可见均质红染物质.瘤细胞呈圆形、多边形,中等大小或较大,胞质丰富,空淡或微嗜酸性,核圆形,染色质均质状,无明显核沟,有一定异型性,可见核分裂象.免疫表型:瘤细胞均表达inhibin-α、CD99、vimentin,部分病例Melan-A、calretinin、S-100阳性,瘤细胞不表达CKpan、EMA、PLAP、Syn和CgA.结论 JGCT非常少见,属于低度恶性肿瘤,预后较好.确诊依赖于临床特点、组织形态学及免疫组化标记.病理诊断时要与卵巢的成人型粒层细胞瘤、高钙血症型小细胞癌、类癌、无性细胞瘤等肿瘤相鉴别.     

Cytogenetic analysis of a juvenile granulosa cell tumor.

We report chromosomal changes in a juvenile granulosa cell tumor with complex chromosomal rearrangements. These tumors have not been subjected previously to cytogenetic analysis.     

卵巢幼年型颗粒细胞瘤临床病理观察

目的：探讨幼年型颗粒细胞瘤的临床病理学特点及诊断要点。方法：对2例幼年型颗粒细胞瘤进行临床资料、病理形态学及免疫组织化学观察,并结合文献对其诊断及鉴别诊断进行探讨。结果：2例镜下可见肿瘤细胞卵圆形或短梭形,胞质淡染,部分空泡状,成巢分布,呈多结节样生长,与周围卵巢组织有明显分界,局部区域有黏液样变性,血管丰富,部分细胞生长活跃,核分裂易见(5~7个/HPF),核沟不明显,未见Call-Exner小体。免疫组织化学染色结果：ER、PR、Vimentin和α-inhibit阳性,Ki-67增殖指数25%~40%不等。结论：卵巢幼年型颗粒细胞瘤是一种少见肿瘤,易与其他肿瘤混淆导致误诊,其临床病理特点应引起临床医师重视。     

Juvenile granulosa cell tumor associated with rapid distant metastases

We have encountered a case of juvenile granulosa cell tumor, first described by SCULLY as a specific form of granulosa cell tumor, in a 23-year-old, nulliparous female associated with some unusual clinicopathological features. The tumor showed a diffuse or macrofollicular pattern with eosinophilic or clear, often vacuolated cytoplasm containing abundant lipid. Ultrastructures revealed features very similar to those of previously reported juvenile granulosa cell tumor. Intracytoplasmic filaments were observed, but smooth surfaced endoplasmic reticulums were not evident. The patient succumbed unexpectedly rapidly due to recurrence and distant metastasis, in spite of anti-cancer therapy. It is also interesting that surprisingly high levels of estrogens as well as testosterone in both urine and serum was recorded before surgery and after the development of recurrence.     

卵巢幼年型粒层细胞瘤的临床病理分析

目的 分析卵巢幼年型粒层细胞瘤的临床病理特点,探讨其诊断标准、特殊形态及预后因素等.方法 对7例幼年型粒层细胞瘤的临床资料行回顾性分析总结、组织切片进行形态观察,对其中6例行免疫组织化学EliVision法染色.6例进行了随访.结果 7例幼年型粒层细胞瘤的平均年龄为24岁(6～53岁).5例有性激素紊乱的临床表现,2例以腹胀及腹痛为主要症状.除1例(例2)行全子宫和双附件切除,其余6例均为一侧附件切除.5例Ⅰ A期,2例Ⅰ C期.6例随访病例中除1例(例1)术后1年余死于肿瘤转移,其余5例健在,随访时间平均4.3年(1～10年).肿瘤最大径7～20 cm(平均13.4 cm),4例囊实性,2例单房囊性,1例实性.镜下全部为弥漫生长和不典型滤泡样结构,未见Call-Exner小体.肿瘤细胞核小、较圆、深染,极少见核沟,3例重度异形,1例中度,3例轻度.1例(例2)小灶有成年型粒层细胞瘤特征.5例核分裂象＞5/10 HPF,2例核分裂象不易见.6例CK(AE1/AE3)阴性、波形蛋白强阳性;1例α-抑制素阳性;4例CD99阳性、Calretinin阴性.结论 幼年型粒层细胞瘤以不典型滤泡样结构而非Call-Exner小体为结构特点,以核小、圆形、深染而无核沟为主要细胞学特点,以大多数CK阴性和波形蛋白阳性为特殊免疫表型,兼以有少量成年型粒层细胞肿瘤结构及单房囊性肿瘤为其特殊形态.肿瘤破裂可能是影响预后的一个重要因素,核异形、核分裂象多见及肿瘤体积大并不能提示肿瘤具有恶性潜能.     

Extraovarian granulosa cell tumor.

A 54-year-old woman was admitted to our hospital complaining of postcoital bleeding. Sonography of the abdomen showed a 8.2 x 8.9 cm-sized solid heterogeneous mass occupying the cul-de-sac, which appeared to be in no way connected with the ovary. On exploratory laparotomy, the tumor mass protruded from the posterolateral retroperitoneum of the pelvic cavity and severely replaced the uterus and adnexa with the outer surface being grossly intact. It grossly measured 10 cm in maximal diameter. The histologic features closely resembled those of ovarian granulosa cell tumor. The primary extraovarian granulosa cell tumor is extremely rare such that in the English literature only 7 cases have been reported to date. Of those granulosa cell tumors are especially rare and only two cases have been reported to arise from retroperitoneum. We herein present a case of retroperitoneal granulosa cell tumor with special regard to differential diagnosis from other solid tumors with similar histology.     

Ovarian giant cell tumor with cystadenocarcinoma.

A 25-year-old woman had a malignant ovarian tumor with two distinct tumor patterns: pseudomucinous cystadenocarcinoma and malignant giant cell tumor of bone. One area of the tumor had a lining of tall columnar epithelium with abundant mucin production; however, another area of the same tumor had a number of large multinucleated giant cells that resembled osteoclasts, intermingled with mononuclear stromal cells. There was no blending of the two tumor patterns. Mitoses were frequent in both areas. A probable histogenesis of the tumor from a malignant teratoma is suggested.     

Juvenile granulosa cell tumor

The results of clinicomorphological analysis of 5 cases with juvenile granulosa cell tumour are given. Various histological patterns of tumour tissue are described in detail. The authors emphasize the benign course of the disease and the possibility of a complete functional restoration of the opposite ovary. The need of longer follow-up studies is stressed for the final diagnosis of the degree of the process malignancy.     

Ovarian steroid cell tumor associated with von Hippel-Lindau syndrome: a report of two cases and literature review

Steroid cell tumor (SCT) is a rare sex cord-stromal tumor accounting for only 0.1% of ovarian tumors. Steroid cell tumor, not otherwise specified (SCT, NOS) is of uncertain lineage and is the most common among the three subtypes of SCT. Patients often present with endocrine abnormalities. Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disorder resulting from inactivating gene deletions, frameshifts, and missense mutations of the VHL gene. VHL syndrome can involve multiple organs and clinically is subclassified into type 1 and type 2 based on the risk of pheochromocytoma (PCC). The association of VHL syndrome with genital tract tumors is rare, and here we report two cases of SCT, NOS in patients with VHL disease. The first case is a 19-year old female with VHL and prior resection of bilateral cerebellar hemangioblastomas. During the radiological surveillance, she was found to have multiple small enhancing foci in the cerebellar hemispheres and a stable small enhancing focus in the T6 cord with associated edema, likely reflecting a small hemangioblastoma. She had long history of irregular menses and ultrasound of pelvis found a large right ovarian mass. Cystectomy specimen showed a 6.4 cm well-circumscribed lesion with yellow cut surface. Histologic examination and immunohistochemical staining confirmed the diagnosis of SCT, NOS. The second patient is a 39-year-old female with VHL, previous surgery for retinal hemangioblastomatosis and cerebellar hemangioblastoma, history of abnormal uterine bleeding and elevated testosterone. CT of abdomen and pelvis revealed bilateral multiple cystic and solid renal lesions and a large left ovarian complex cyst. Bilateral partial nephrectomy showed multiple renal cysts and clear cell renal cell carcinomas (RCCs). Left salpingo-oophorectomy showed a 7 cm lesion with yellow-orange cut surface and features consistent with SCT, NOS. Review of the previously reported VHL SCT cases (not including the current two cases) indicated a probable link between VHL syndrome and SCT.     

Multifocal intrafollicular granulosa cell tumor of the ovary associated with an unusual germline p53 mutation.

A 23-year-old woman presented with a 7 cm right multicystic mass in the ovary, which corresponded microscopically to an unusual lesion consisting of a multifocal granulosa cell tumor with intrafollicular ('in situ') growth involving two-thirds of mature follicles. Stromal invasion was found in only one area where neoplastic follicles coalesced. Granulosa cells had atypical, bizarre TP53 positive nuclei with hyperchromatism, abundant mitoses and numerous hyaline globules. The contralateral ovary was normal. From the age of 10 years, the patient had a complex medical history of multiple tumors, including telangiectatic osteosarcoma, typical and malignant phyllodes tumor, reticulohistiocytoma of skin, carcinomas of the breast and lipo- and leiomyosarcoma. The female genital tract also harbored myometrial leiomyomas and an early endometrial carcinoma. Retrospective histologic study of all mesenchymal neoplasms in this patient showed, the conspicuous presence of similar bizarre TP53 positive cells with hyaline globules in all the mesenchymal neoplasms. In the genetic study, a germline p53 gene mutation was detected in exon 10, codon 336, generating a stop codon in the oligomerization domain of the protein (E336X). A further p53 mutation was found in exon 7 in the granulosa cell tumor. Mutation occurred de novo since there was no history of tumors in any family members, all of whom had a wild-type p53. Although this patient shows a typical tumor phenotype of Li Fraumeni syndrome, the germline mutation corresponded to a highly unusual mutated domain, which is similar to the one found in childhood malignant adrenocortical tumor; also a rare neoplasm that originates in adrenocortical cells; which are closely related, both functionally and embryologically, to granulosa cells.     

Gonadal tumor with granulosa cell tumor features in an adult testis

Granulosa cell tumor is almost exclusively an ovarian tumor. Rare cases of granulosa cell tumor have been reported involving the testes. We report a testicular gonadal stromal tumor with granulosa cell differentiation in a 54-year-old white man. The tumor was discovered by an ultrasound evaluation for left hydrocele. The patient was clinically asymptomatic. On frozen section, the initial impression was a malignant lymphoma. Final histology on the orchiectomy specimen showed a gonadal stromal tumor with granulosa cell features. Immunohistochemical studies excluded malignant lymphoma and germ cell tumors, consistent with a stromal tumor. This case report illustrates the challenges for the pathologist in making an accurate diagnosis in unusual testicular tumors.     

Testicular granulosa cell tumor of the adult type.

A testicular granulosa cell tumor of the adult type was studied in a 61-year-old man with a history of diabetes and urinary bladder carcinoma. The tumor was composed of three areas, each with a distinctive histologic pattern: solid, cystic, and cordlike. Most of the tumor cells in the three patterns had a round to ovoid euchromatic nucleus with one or two large nucleoli and scanty cytoplasmic organelles, mainly mitochondria and rough endoplasmic reticulum. These cells showed slight immunopositivity for vimentin and no immunostaining for cytokeratins. Occasionally, elongated nuclei displaying membrane infoldings were observed. Pleomorphic nuclei were rare. The number of mitotic figures was low. Differential aspects of testicular and ovarian granulosa cell tumors are discussed.     

Sarcomatous change in granulosa cell tumor

Granulosa cell tumors have a tendency for indolent growth and late recurrence. The present case of granulosa cell tumor in a 67-year-old woman is the first, to the authors' knowledge, to be reported as showing sarcomatous transformation with a rapid fatal course. Both the granulosa cell and fibrothecomatous elements appear to have undergone sarcomatous change with some evidence to suggest rhabdomyosarcomatous differentiation. The sarcomatous component was present in metastatic deposits.     

Testicular juvenile granulosa cell tumor in a newborn: case report and review of the literature

Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia. This report describes a juvenile granulosa cell tumor arising in the testis of a neonate. Chromosome analysis of the tumor showed a normal male karyotype 46 XY. Histopathology and immunohistochemical studies revealed the occurrence of 2 well-differentiated epithelial-like and smooth muscle-like components in the neoplasm. The morphologic clues leading to the correct diagnosis of juvenile granulosa cell tumor and the possible histogenesis are briefly discussed.