Composite FOXL2 Mutation-positive Adult Granulosa Cell Tumor and Serous Borderline Tumor of the Ovary.

We report a case of a cystic ovarian neoplasm in a 76-yr-old female composed of 2 distinct and intimately associated components: a macrocystic adult granulosa cell tumor (AGCT) and a serous borderline tumor. The granulosa cell nature of the tumor was confirmed with positive immunohistochemical staining for inhibin, calretinin, and WT1, while the neoplastic nature of the granulosa cell proliferation was supported by the presence of a point mutation of the FOXL2 gene. A review of 19 previously reported mixed AGCT and epithelial neoplasms of the ovary is included. Of the eight mixed AGCT and epithelial tumors, including our case, that were tested for FOXL2 mutation, 4 of the 5 mutation-positive cases were notable for demonstrating a macroscopically visible nodule or mass of AGCT at the time of gross examination, while 2 of the 3 mutation-negative cases lacked a mass-producing granulosa cell component. This feature by itself may be sufficient to predict the true neoplastic nature of the granulosa cell proliferation. This is the first reported case of a composite neoplastic AGCT and serous borderline tumor. We also discuss the current histogenetic models for these rare mixed AGCT and epithelial tumors.

Pulmonary squamous cell carcinoma with a lepidic-pagetoid growth pattern.

We report a rare case of a peripheral squamous cell carcinoma (SCC) of the lung in which most of the tumor displayed a "lepidic" growth pattern. The tumor cells also appeared to grow along the alveolar walls between the overlying pneumocytes and underlying basement membrane, a form reminiscent of the "pagetoid" mode of spread. The neoplastic cells were positive for the squamous markers p63 and p40. TTF-1 and CK7 highlighted residual non-neoplastic pneumocytes, which either covered the lepidic tumor cells or lined pseudoglandular formations created by the filling of alveolar spaces by the tumor. CK7 also stained the tumor cells, albeit focally and weakly, a not uncommon finding in peripheral lung SCC. The tumor cells were negative for TTF-1 (clone 8G7G3/1), but did show focal weak reactivity with the less specific clone SPT24. The invasive area measured 2.5 mm while the overall size of the tumor including the lepidic-pagetoid component was 9.0 mm. Even though the invasive component was < 0.5 cm, the only option according to existing staging criteria was to stage it as pT1a. Since the current staging system does not account for the non-invasive lepidic component of pulmonary SCC, the increasing awareness of this variant may require its inclusion within the classification and pathological staging of lung carcinoma.

Pagetoid involvement of bronchioles by metastatic breast carcinoma.

We report a case of a 36-year-old female with endobronchiolar spread of breast carcinoma in the lung. The patient had recently been diagnosed with invasive ductal breast carcinoma and imaging of the lungs revealed bilateral lung nodules. She then underwent a wedge resection of a lung nodule. The biopsy revealed a subpleural metastatic nodule of invasive ductal carcinoma with an intra-alveolar pattern of spread at its advancing edge. Several smaller foci of intra-alveolar tumor were noted as well as pagetoid spread of tumor cells along a 0.9 mm wide bronchiole. The neoplastic cells were TTF-1 negative, GATA3 positive and ER positive. This is the third reported case of pagetoid spread of metastatic breast carcinoma along the bronchial tree. This case emphasizes the importance of examining not only bronchi but also bronchioles to detect this unusual pattern of spread of metastatic breast carcinoma in lung resection specimens.

Perineal Clear Cell Hidradenoma: A GATA3-positive Neoplasm With Potential for Misdiagnosis.

We report a case of clear cell hidradenoma of the perineum that was initially misinterpreted as a papillary urothelial carcinoma, either metastatic or of Bartholin gland origin, on initial excisional biopsy. The misinterpretation may have been due to the pseudopapillary architecture and GATA3-positivity of the biopsy tissue. Clear cell hidradenomas often show a range of histologic growth patterns and cellular differentiation and are one of many tumors that react immunohistochemically with GATA3. Although rare, these tumors can occur in the genital region and can mimic malignant tumors such as metastatic renal cell carcinoma and carcinomas of the genitourinary tract. This report details the morphologic and immunohistochemical pitfalls that make accurate diagnosis of clear cell hidradenoma in this unusual location challenging.

Ciliated Carcinoma of the Endometrium.

We report a case of ciliated carcinoma of the endometrium in a 55-yr-old woman with stromal hyperthecosis of the ovaries. The patient presented with postmenopausal uterine bleeding and an endometrial curetting revealed an atypical epithelial proliferation that met the criteria for endometrioid adenocarcinoma notwithstanding an abundance of ciliated cells. Cilia were present not only within typical endometrioid glands but also within microacini of quasi-solid areas as well as inside intracytoplasmic vacuoles. The subsequent hysterectomy specimen demonstrated a well-differentiated adenocarcinoma of the endometrium with a predominance of neoplastic glands lined by ciliated epithelial cells, thus confirming the initial suspicion for ciliated carcinoma. Since the first description of ciliated adenocarcinoma of the endometrium in 1983, only a handful of additional cases have been reported in the literature. We review the spectrum of histologic presentations of this endometrial neoplasm and elaborate on its distinction from cilia-bearing mimickers and its histogenesis.

Vulvar Silicone Granuloma.

We report a case of vulvar silicone granulomas following injection of liquid silicone into the labia. The patient is a 51-yr-old female who presented with vulvar pain and enlarged, indurated labia majora. In the past, she had undergone bilateral labial cosmetic augmentation with a silicone-based filler injected directly into the labia and into the gluteal regions. This had been performed in a nonmedical setting. At surgery, oblong firm soft tissue masses were removed from both labia. Microscopically, the lesions demonstrated replacement of the subcutaneous adipose tissue by fibrous tissue containing innumerable round empty spaces of different sizes, either within or surrounded by macrophages and occasional foreign-body giant histiocytes. The clear vacuoles corresponded to silicone fluid which had been dissolved during tissue processing. There are only rare case reports of vulvar silicone granuloma in the literature, and these were due to migration of silicone to the vulva from distant sites. Our report details a case of vulvar silicone granuloma secondary to direct injection of liquid silicone material into the labia.

Tubulopapillary Carcinoma: An Aggressive Variant of Invasive Breast Carcinoma With a Micropapillary DCIS-Like Morphology.

Tubulopapillary carcinoma is a recently described variant of breast carcinoma characterized by a proliferation of elongated and anastomosing tubular glands exhibiting intraluminal micropapillary and sometimes papillary epithelial projections. We have recently encountered a patient with invasive breast carcinoma displaying a prominent tubulopapillary component. The histomorphology in our case had an uncanny resemblance to micropapillary ductal carcinoma in situ, but the invasive nature of the glands was confirmed not only by the lack of myoepithelial cells but also by the presence of identical metastatic foci within ipsilateral axillary lymph nodes. This case was made all the more intricate by the simultaneous presence of invasive micropapillary carcinoma in the opposite breast and a carcinosarcoma of the uterus with a serous papillary carcinoma component. As noted in the only prior report on tubulopapillary carcinoma of the breast, our case confirms the aggressive nature of this form of invasive carcinoma, the histological features of which appear to be easily identifiable and reproducible.

Pilomatrix carcinoma of the right postauricular region: A case report and literature review.

INTRODUCTION: Pilomatrix carcinoma is a rare aggressive tumor with a high rate of local recurrence after surgical excision. Diagnosis is made by histopathology and when discovered, wide local excision has been shown to have the best results. PRESENTATION OF CASE: We report a case of a 74-year-old male incidentally found to have a large right postauricular mass and regional lymphadenopathy. The mass was biopsied and proven to be a malignant pilomatrixoma. Wide local excision and level II and III neck dissection with reconstruction using a right supraclavicular flap was performed. DISCUSSION: Pilomatrix carcinoma is a lesion first described in 1880 by Malherbe and Chenantais. It is unknown if these tumors arise de novo or arise through malignant transformation of a benign pilomatrixoma. There are similarities between the benign lesion and its malignant counterpart in terms of activating mutations in signaling pathways. A well-defined gold standard for surgical management has not been established, but currently wide local excision with safe margins is recommended along with regional lymph node dissection when metastasis is suspected. Currently, no chemotherapy regimen has been shown to be effective in local control or in preventing metastatic spread. CONCLUSION: Pilomatrix carcinoma, given its aggressive nature, has a high propensity for recurrence after excision. It is important to perform wide local excision to avoid an incomplete resection and higher recurrence rates. Further studies will be needed to create a more defined standard of treatment and to evaluate the role of adjuvant chemotherapy and radiation therapy.

Undifferentiated embryonal sarcoma of the liver mimicking venolymphatic malformation.

Undifferentiated embryonal sarcoma of the liver (UESL) is a primitive hepatic neoplasm that presents in a variety of forms on ultrasonography, computed tomography, and magnetic resonance imaging. In this case report, we present an UESL with fluid-fluid cysts mimicking a radiographic presentation commonly seen in venolymphatic malformation on magnetic resonance imaging. This is the first described case of UESL, with this radiographic presentation and outlines, the importance of considering this malignant lesion when evaluating liver tumors in children.

A pathologic fracture of an intracortical chondroma masking as an osteoid osteoma.

The differential diagnosis of a tibial intracortical diaphyseal lesion includes osteoid osteoma, periosteal chondroma, nonossifying fibroma, osteofibrous dysplasia, and adamantinoma. While osteoid osteomas represent 5% of all primary bone tumors, little is understood about intracortical chondromas. Intracortical chondroma was first described in 1990 and 7 reported cases have since been published. This article presents the first reported case of a pathologic fracture of an intracortical lesion in a child that shared radiographic and clinical features similar to those of osteoid osteoma, but on histopathologic examination revealed an intracortical chondroma. Our patient exhibited radiographic features of a poorly circumscribed cortical bone sclerosis, a centralized radiolucent nidus on computed tomography, and a hot bone scan of a lesion <1 cm in size that was consistent with an osteoid osteoma. An excision of the bone lesion was performed. The histopathology of the lesion revealed nodules of benign hyaline cartilage in cortical bone, consistent with an intracortical chondroma. Demarcated by cortical bone with mature Haversian systems rather than periosteum or cancellous bone, intracortical chondroma differs from the other 2 chondroma variants, periosteal chondroma and enchondroma, by its relationship to the surrounding bone. Enchondromas are characteristically understood to be asymptomatic. Intracortical chondromas along with periosteal chondromas have been found to present as painful lesions. The similarities with osteoid osteoma and intracortical chondroma in our patient make it circumspect in regards to ablating lesions (ie, needle radiofrequency ablation) without acquiring a biopsy in pediatric patients that both clinically and radiographically are presumably an osteoid osteoma.

Technetium-99m diphosphonate imaging of psammocarcinoma of probable ovarian origin: case report and literature review.

Technetium-99m methylene diphosphonate (Tc-99m MDP) bone scans have long been used by clinicians to diagnose osseous metastases in patients with cancer. However, in several benign and malignant diseases, notably those characterized by extensive soft tissue calcification, Tc-99m MDP may be taken up by the tumor itself. We present a case of a stage IIIC psammoma-rich low-grade serous carcinoma of the ovary, whose identity and extent of disease were first suggested by Tc-99m MDP scintigraphy. The literature concerning this form of cancer, and the use of Tc-99m MDP bone scans to image soft tissue lesions, are reviewed.

Hidradenoma papilliferum of nasal skin.

Pathologic examination of an excisional biopsy specimen of a subepidermal nodule from the nasal tip of a 37-year-old black man demonstrated papillae covered by eosinophilic columnar epithelial cells, suggesting cylindric cell papilloma or well-differentiated papillary adenocarcinoma of nasal mucosa. The patient did not submit to further investigation of the sinonasal tract but sought attention 15 months later because of local recurrence of the lesion. A protuberant, 3-cm, cystic nodule of the subcutis over the left nasal ala and tip was excised completely and found to have characteristics of hidradenoma papilliferum, an apocrine gland neoplasm most commonly occurring in the anogenital skin of white women. This case demonstrates how easily an apocrine neoplasm arising near a mucocutaneous junction can be confused with a mucosal tumor, potentially leading to inappropriate treatment.