Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome

Cowden syndrome is an autosomal dominant condition caused by pathogenic mutations in the phosphatase and tensin homolog (PTEN) gene. Only a small proportion of identified pathogenic mutations have been reported to be large deletions and rearrangements. We report on a female patient with a previous history of breast ductal carcinoma in situ who presented to our institution for management of gastrointestinal hamartomatous polyposis. Although several neoplastic predisposition syndromes were considered, genetic evaluation determined that the patient met clinical diagnostic criteria for Cowden syndrome. Array-based comparative genomic hybridization was performed and revealed a mosaic partial deletion of the PTEN gene. Follow-up clinical history including bilateral thyroid nodules, dermatological findings, and a new primary “triple-negative” adenocarcinoma of the contralateral breast are discussed. We highlight the need for recognition and awareness of mosaicism as it may provide an explanation for variable phenotypic presentations and may alter the genetic counseling risk assessment of affected individuals and family members.     

Hajdu–Cheney syndrome in a 3 1/2 year old girl

Hajdu–Cheney acro-osteolysis is reported in a 3 1/2 year old girl whose mother has the syndrome. Acroosteolysis was shown to be absent at the age of 2 1/2 years. It was demonstrated on hand X-rays performed a year later. This is the youngest case of Hajdu–Cheney acro-osteolysis reported in the literature.     

Mucinous differentiation in colonic adenocarcinoma is associated with a reduction in tumour-infiltrating lymphocytes.

AIMS: The aim of this study was to examine the density of tumour-infiltrating lymphocytes (TILs) in colorectal carcinomas showing mucinous differentiation. METHODS: We examined 33 adenocarcinomas showing variable mucinous differentiation and compared the density of TILs with that of 65 adenocarcinomas of no special type (NOS) showing no mucinous differentiation. RESULTS: Mucinous differentiation is associated with a significantly lower density of TILs compared to adenocarcinoma NOS (P=0.0016; chi-squared test with continuity correction). This reduction in TILs is present also in adjacent foci of adenocarcinoma NOS within mucinous tumours. CONCLUSIONS: There is a reduction in the number of TILs in all areas of colorectal adenocarcinomas that show mucinous differentiation, which may help explain the increased biological aggressiveness associated with this pattern of differentiation. Copyright Harcourt Publishers Limited.     

Challenges in the management of a patient with Cowden syndrome: case report and literature review

ABSTRACT: Lynch syndrome (LS) individuals are predisposed to a variety of cancers, most commonly colorectal, uterine, urinary tract, ovarian, small bowel, stomach and biliary tract cancers. The risk of extracolonic manifestations appears to be highest in MSH2 mutations carriers.We present a carrier case with a novel MSH2 gene mutation that clearly demonstrates the broad extent of LS phenotypic expression and highlights several important clinical aspects. Current evidence suggests that colorectal tumors from LS patients tend to have better prognoses than their sporadic counterparts, however survival benefits for other cancers encountered in LS are unclear.In this article we describe a family with a novel protein truncating mutation of c.2388delT in the MSH2 gene, particularly focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on. Our report of multiple primary tumors occurring in the 12-25 years interval might suggest these patients do not succumb to other extracolonic cancers, provided they are regularly followed-up.     

Gestational trophoblastic disease in a fifty-one year old woman

Molar pregnancy has always been of interest to physicians because of the diagnostic and management challenges it presents. Its occurrence in patients older than 50 years of age is rare and misdiagnosis is common. A 51 year old black female presented to the gynecology emergency room with vaginal bleeding for twenty days. She was diagnosed with a molar pregnancy by a pelvic ultra-sound. Prior to presenting to the emergency room she had a negative work-up for hyperthyroidism, including a biopsy of a benign thyroid nodule and was also started on Inderal for new onset hypertension. She underwent a primary hysterectomy and subsequently required five courses of actinomycin D for plateauing of the BhCG. The different forms of presentation of gestational trophoblastic disease should be kept in mind so that the diagnosis can be made promptly and appropriate treatment started early, especially in patients with advanced age.     

Malignant peripheral nerve sheath tumor arising in a "de novo" ganglioneuroma. A case report.

A case of a "de novo" ganglioneuroma showing an internal area of malignant nerve sheath tumor is described. The tumor arose in an 18-year-old girl without a history of von Recklinghausen's disease. Immunohistochemically, the ganglioneuromatous component was positive with anti-synaptophysin, anti-S100 protein and anti-vimentin antisera, whereas the malignant part was immunoreactive only with anti-S100 protein and anti-vimentin antisera. The patient is free of disease 4 years after surgery. The clinicopathologic features of this rare case are discussed.     

Adenocarcinoma arising in a colonic interposition following resection of squamous cell esophageal cancer

This article documents the first case of adenocarcinoma arising in a colonic interposition that was performed after resection of squamous cell esophageal cancer. In long-term survivors of esophageal cancer surgery, this unusual complication must be considered as a cause of recurrent dysphagia or other symptoms.     

Breast cancer development in a female with Poland's syndrome

BACKGROUND: Poland's syndrome, a rare congenital anomaly characterized by a defect of the pectoralis muscles, has been reported in association with lymphoreticular malignancies and some solid tumors. CASE REPORT: We report the case of a 53-year-old woman with Poland's syndrome who developed breast cancer in the afflicted ipsilateral hypoplastic breast. FNA cytology revealed a moderately differentiated carcinoma and histology was consistent with a well differentiated invasive ductal carcinoma. CONCLUSION: Poland's syndrome can be associated with breast cancer so all females with the syndrome should be thoroughly examined for early detection of neoplasia.     

Cancer risk and genotype–phenotype correlation in Japanese patients with Cowden syndrome

International Journal of Clinical Oncology - Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high...     

Signet ring cell-type adenocarcinoma arising in a mature teratoma of the testis

A 48-year-old male who presented with an enlarged right scrotum was diagnosed with malignant transformation of testicular teratoma. Physical examination revealed a right scrotal mass of hard consistency with no inguinal lymphadenopathy. Since prepuberty, his right testis had been larger than the left one, with no pain or tenderness. Computed tomography and bone scan revealed retroperitoneal lymphadenopathy and multiple bone metastases. Right orchiectomy was performed immediately, and a pathological examination revealed a mature teratoma associated with adenocarcinoma, showing signet ring cell differentiation. Cisplatin-based combination chemotherapy was administered; however, the metastatic lesions progressed, and the patient succumbed to the disease after 15 months. Only a few cases of primary malignant transformation of teratoma in the testis have been reported, and this is the first case report of primary malignant transformation of teratoma in the testis with signet ring cell-type differentiation.     

225例大肠腺瘤癌变的临床病理、免疫组化及其超微结构

目的：探讨大肠腺瘤及其癌变的临床病理、免疫组织化学及其超微结构。方法：随机选择我院近5年间纤维肠镜1804人次，检出大肠腺瘤225枚，其中91例行CEA组织化学染色，15例行电镜观察。结果：腺瘤肠镜检出率为12．47％（225／1804），癌变33例，癌变率为14．67％（33／225），其中管状腺瘤癌变4例，绒毛管状腺瘤癌变8例，绒毛状腺瘤癌变21例。有蒂的管状腺瘤异型程度轻、癌变率低、预后好；宽蒂、无蒂的扁平型、凹陷型、绒毛状腺瘤，异形程度重，癌变率高，浸润深，预后差。CEA染色阳性率：腺瘤癌变者93．33％（14／15），绒毛状腺瘤78．95％（15／19），绒管状腺瘤70．50％（12／17），管状腺瘤67．5％（27／40）。电镜观察显示绒毛状腺瘤部分腺上皮细胞突破基底膜向间质伸长，可出现异形细胞，核大核沟深，常染色质丰富核仁明显，癌变者可见淋巴细胞溶解癌细胞膜现象。结论：大肠腺瘤为癌前病变，不同类型的大肠腺瘤其治疗及预后不同。     

Basal cell carcinoma arising within a seborrheic keratosis with respect to immunohistochemical characteristics

Malignant tumor occurring within seborrheic keratosis (SK), which is one of the most common benign cutaneous tumors, is extremely rare. We report a case of basal cell carcinoma (BCC) arising within SK. Additionally, this is the first study to describe the immunohistochemical characteristics of this type of carcinoma. An 89-year-old Japanese woman presented with a persistent scaly plaque in the right auricle of her ear. Histopathological study revealed a superficial type of BCC arising within SK. Immunohistochemical studies showed that cytokeratin 17 (CK17), CK19, SOX9 and p53 protein were expressed in BCC, but not in SK. BCC is considered to originate from the follicular germinative cells, and the outer root sheath may be the possible origin. SK is also thought to be a benign skin appendage neoplasm showing follicular differentiation, especially follicular infundibula. Therefore, previous reports speculated that there was a pathogenic relationship between SK and BCC, with respect to a common follicular origin. However, the immunohistochemical characteristics of this study suggest that BCC does not arise directly from SK, but instead, that SK is the nidus of the carcinoma, resulting in the abutment of SK with BCC. Furthermore, the results of the present case suggest that immunohistochemical surveillance of the expression of CK17, CK19 and SOX9 and p53 protein is useful in differentiating minute BCC from the non-neoplastic hair buds.     

Solitary rectal ulcer syndrome presenting as polypoid mass lesions in a young girl

Solitary rectal ulcer syndrome (SRUS) is a rare condition in children. We report a case of SRUS in an 8-year old Saudi girl who presented with recurrent rectal bleeding, intermittent mucosal prolapse, and passage of mucus per rectum. Colonoscopy revealed multiple polypoid mass lesions with histopathological features of SRUS. The polypoid variant of SRUS is very rare in children and may be confused with rectal malignant or inflammatory conditions.     

Malignant lymphoma arising within thyroid tissue in a mature cystic teratoma

A 24-year-old woman was found to have a diffuse large cell lymphoma arising within thyroid tissue within a mature cystic teratoma of the ovary. To the authors' knowledge, this is the first reported case of malignant lymphoma arising within a teratoma of the ovary.