Figure 2 - available from: Diagnostic Pathology
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Macroscopic and histologic findings of lung adenocarcinoma. a Right lungs showing multiple solid nodules (arrowheads). b Solid pattern with signet-ring cells (H.E. x200). c Acinar pattern (H.E. x200)
Source publication
Tumor-to-tumor metastasis is a rare phenomenon, but it has been suggested to be more frequent in patients with hereditary cancer syndrome. We report an autopsy case of tumor-to-tumor metastasis in a 75-year-old male. At 6 months before his death, the patient complained of hoarseness and dysphagia, and clinical whole-body examinations revealed advan...
Citations
Background
PTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosigmoid area, and provides a literature review of PHTS case reports published between March 2010 and March 2022.
Case presentation
A 39-year-old Iranian female with a family history of gastric cancer in a first-degree relative presented with minimal bright red blood per rectum and resistant dyspepsia. Colonoscopy revealed the presence of over 20 polyps in the rectosigmoid area, while the rest of the colon appeared normal. Further upper endoscopy showed multiple small polyps in the stomach and duodenum, leading to a referral for genetic evaluation of hereditary colorectal polyposis. Whole-exome sequencing led to a PHTS diagnosis, even though the patient displayed no clinical or skin symptoms of the condition. Further screenings identified early-stage breast cancer and benign thyroid nodules through mammography and thyroid ultrasound.
Method and results of literature review
A search of PubMed using the search terms “Hamartoma syndrome, Multiple” [Mesh] AND “case report” OR “case series” yielded 43 case reports, predominantly in women with a median age of 39 years. The literature suggests that patients with PHTS often have a family history of breast, thyroid and endometrial neoplasms along with pathogenic variants in the PTEN/MMAC1 gene. Gastrointestinal polyps are one of the most common signs reported in the literature, and the presence of acral keratosis, trichilemmomas and mucocutaneous papillomas are pathognomonic characteristics of PHTS.
Conclusion
When a patient presents with more than 20 rectosigmoid polyps, PHTS should be considered. In such cases, it is recommended to conduct further investigations to identify other potential manifestations and the phenotype of PHTS. Women with PHTS should undergo annual mammography and magnetic resonance testing for breast cancer screening from the age of 30, in addition to annual transvaginal ultrasounds and blind suction endometrial biopsies.
Endocrine organs are classified into primary and secondary based on whether a hormone-secreting organ synthesizes the relevant hormone(s) as a primary function or not. The prevalence of metastatic malignancy varies in the clinical setting, and recognition of metastatic disease in endocrine organs is important for various reasons. This chapter will focus on metastatic disease in major endocrine organs, including adrenals, pituitary, thyroid and parathyroid glands, from malignancies other than haemato-lymphoid neoplasms. Their presence is best regarded as generalized involvement rather than metastatic spread. Herein, this chapter discusses the prevalence and importance of recognition of metastases in endocrine organs and highlight various aspects of endocrine organ-specific metastatic disease.
Cowden syndrome (CS) is a rare disorder characterised by multiple non-cancerous, tumour-like growths called hamartomas. The syndrome is associated with the development of cancer of the breast, endometrium, kidneys, skin and rarely the brain. We report a rare case of symptomatic cardiac haemangioma in a patient with CS. A 54-year-old woman with CS presented with dyspnoea and orthopnoea in the setting of cardiac tamponade. Echocardiography revealed a large haemopericardium and tamponade physiology, secondary to a pericardial mass. The patient underwent urgent cardiopulmonary bypass with removal of the mass. Histopathology confirmed a benign cavernous haemangioma. We postulate that tumours involving the heart/pericardium may be an additional manifestation of CS. This case further highlights the necessity to consider pericardial/cardiac manifestations in patients with hamartomatous syndromes who present with cardiorespiratory symptoms, so that opportunistic investigation and treatment may be instituted.
Tumor-to-tumor metastasis is a rare phenomenon defined as a to metastasis in a histologically distinct tumor. We report an unusual case of a 51-yr-old woman who presented with a cervical, bleeding lesion diagnosed as a poorly differentiated adenocarcinoma, HPV18+. Imaging studies revealed an unresectable cervical carcinoma with an associated left ovarian multicystic teratoma. A suspicious solid nodule within the teratoma was also reported. Bilateral salpingo-oophorectomy was performed before the cervical tumor was treated. Pathologic findings showed a multicystic tumor measuring 110×40×30 mm with an area of adenocarcinoma, morphologically similar to the cervical neoplasm. The immunoprofile obtained in the malignant ovarian component (p16+, carcinogenic embryonic antigen+, vimentin-, estrogen receptor-) was similar to the one in the cervix. Moreover, both lesions harbored HPV18. These findings confirmed the presence of a metastatic cervical adenocarcinoma in a mature cystic teratoma. In the differential diagnosis, both somatic malignant transformation of the mature cystic teratomas and the presence of a "collision tumor" were considered and are discussed in this case report.
