Bilateral Gonadoblastoma With Dysgerminoma in a Phenotypically Normal Female With 46XX Karyotype: Report of a Rare Case and Literature Review.

Gonadoblastoma is a rare ovarian neoplasm which belongs to "germ cell-sex cord-stromal tumor" category. This tumor is frequently associated with invasive germ cell malignancy. It commonly arises in dysgenetic gonads of young individuals who are phenotypically females but possess 46XY karyotype. It has been rarely reported in females with normal phenotype and genotype. We herein describe a case of 10-year-old female who presented with abdominal pain, abdominal distention and fever. CT scan of the abdomen and pelvis revealed bilateral ovarian masses, ascites and pelvic and para-aortic lymphadenopathy. Serum lactate dehydrogenase levels were also elevated. She underwent left salpingo-oophorectomy, right ovarian biopsy, omentectomy and para-aortic lymphadenopathy. Microscopically, tumor showed in situ and invasive components. In situ component was arranged in nests and lobules formed by immature sertoli cells forming acini and encircling large polygonal primitive germ cells. Immature sertoli cells were positive for immunohitochemical (IHC) stains cytokeratin AE1/AE3, inhibin and calretinin, while germ cells were positive for SALL4, Oct 3/4, placental alkaline phosphatase (PLAP) and CD117. Invasive component was arranged in sheets of large-sized, polygonal-shaped primitive germ cells which were also positive for SALL4, Oct 3/4, PLAP and CD117 IHC stains. Hence, the diagnosis of "gonadoblastoma with dysgerminoma" was made. The tumor was limited to both ovaries. Cytogenetic analysis of peripheral blood revealed normal female 46XX karyotype. The patient received two cycles of adjuvant chemotherapy and was then lost to follow-up. We conclude that gonadoblastoma, although rare, should be considered as a differential diagnosis in ovarian tumors of young females. Invasive germ cell component should always be carefully searched for as it guides about treatment and predicts prognosis.

Invasive Breast Carcinoma Arising in a Nipple Adenoma After 15 Years: Report of a Rare Case and Literature Review.

Nipple adenoma (NA) is a rare benign breast neoplasm that seldom co-exists with breast carcinoma (BC). Majority of these BC are separate from NA, and their origin from NA is an extremely rare event. We herein describe a case of 65-year-old female who had a painless lump for 15 years which increased in size and ulcerated for last six months. Microscopic examination of the wedge biopsy of nipple showed features of NA at superficial aspect and invasive carcinoma from it at the deeper aspect. The patient underwent mastectomy and axillary clearance, which revealed a 4-cm invasive breast carcinoma, no special type with axillary lymph node involvement. The patient received adjuvant chemotherapy, radiotherapy and adjuvant hormonal therapy. The patient is alive and disease-free after 36 months. NA should be carefully evaluated for co-existent BC because it completely changes the treatment plan and prognosis.

Malignant Eccrine Adenoma With Sarcomatous (Heterologous) Components: Report of a Rare Skin Adnexal Neoplasm With Literature Review.

Malignant eccrine spiradenoma (MES) is an exceedingly rare skin adnexal tumor that arises from pre-existing benign eccrine spiradenoma (BES). MES tumors show a wide spectrum of morphological features, posing a diagnostic challenge to the pathologist. Sarcomatous (heterologous) elements are seen in a few of these tumors, further complicating the morphological picture. We herein describe a case of a 66-year-old male who presented with a recently enlarging, ulcerated, nodular skin lesion over the right leg that had been present for the last 25 years. The patient underwent wide local excision of the tumor. Microscopic examination revealed a neoplastic lesion comprising benign and malignant components. The carcinomatous component showed features of infiltrating adenocarcinoma, not otherwise specified, whereas the sarcomatous component showed predominant osteosarcomatous and focal chondrosarcomatous differentiation. The benign component showed morphological and immunohistochemical features of BES. No adjuvant treatment was administered. The patient was alive and disease-free for 14 months, after which he was lost to follow-up. Careful identification and knowledge related to histological diversity are keys to the correct diagnosis of this rare tumor. MESs are potentially aggressive tumors, and therefore, close long-term follow-up should be maintained.