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Gestational trophoblastic disease

Gestational trophoblastic disease — usually referred to as a mole — is a very rare abnormality of pregnancy in the reproductive female that involves abnormal trophoblast proliferation. It is the result of a (purely chance) genetic error during the fertilization process that in turn causes the growth of abnormal tissue (which is not an embryo) within the uterus. The growth of this material is disproportionately rapid when compared to normal fetal growth. more...

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The two types of hydatidiform molar pregnancy are complete and partial.

Complete moles are the most common type of moles, and are when the mass of tissue is completely made up of abnormal cells that would have become the placenta in a normal pregnancy. There is no fetus and nothing can be found at the time of the first scan. Complete moles often have a diploid karyotype 46,XX due to fertilization of an empty ovum by a single sperm followed by replication of the haploid chromosome. On ultrasound, a complete mole has a "snow storm pattern", and the uterus is large for dates. Microscopically, there is edema of most villi, which gives the appearance of a large and random collection of grape-like cell clusters.

In a partial mole, the mass may contain both these abnormal cells and often a fetus that has severe defects. In this case, the fetus will be consumed by the growing abnormal mass very quickly. Partial moles have a triploid karyotype (69,XXX or 69,XXY) due to the fertilization of a single egg with two sperm. They also have a lower volume of tissue, and smaller hydropic villi (grape-like), as well as normal villi mixed in with the abnormal. Rarely, partial moles can progress to gestational choriocarcinoma.


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The Pregnancy That Never Was—Beta Human Chorionic Gonadotropin Secreting Primary Lung Cancer - Abstract
From CHEST, 10/1/00 by Jennifer Anne LaRosa

Jennifer Anne LaRosa, MD; TB Pustilnik, MD; PJ O'Reilly, MD; MR Waldrum, MD; SM Harding, MD; MF Carcelen, MD--The University of Alabama at Birmingham, Birmingham, Alabama, USA

Introduction: Primary choriocarcinoma of the lung is an extremely rare form of non-small cell lung cancer. It has a predilection for young women who more commonly present with gestational trophoblastic disease.

Case Presentation: DP was a 33 year old African-American female who presented to her primary provider with 2-3 months of malaise, weight loss, nausea and vomiting, abdominal pain, exertional dyspnea, and productive cough. Chest roentgenogram showed a right upper lobe consolidation and sputum cultures were positive for Mycobacterium Tuberculosis. She was started on anti-tuberculous therapy but her symptoms worsened. She was then noted to have an umbilical hernia for which she underwent surgical repair. Intraoperative biopsy of an umbilical node revealed poorly differentiated metastatic carcinoma and a B-hCG level was noted to be 691 ng/ml.

On physical exam, she was a thin female in no distress. Vital signs: Temperature: 101.0; Heart rate 100; Respiratory rate 20, Blood pressure 114/58, Room air oxygen saturation 96%. Head and neck: poor dentition. Cardiovascular: 3/6-holosystolic murmur. Pulmonary: diminished breath sounds over the right upper lobe. Abdomen: diffuse lower abdominal tenderness, subcutaneous flank nodule. Pelvic: no masses.

Abnormal labs: white blood cell 15,200/[mm.sup.3] (76 segmented neutrophils, 22 lymphocytes, 2 eosinophils), hemoglobin 9.3 g/dl, B-hCG 3502 ng/ml, total bilirubin 1.4 mg/dl, alkaline phosphatase 127 IU/L, gamma-gluyamyltranspeptidase 197 IU/L, lactate dehydrogenase 515 IU/L, albumin 2.3 g/dl. Chest roentgenogram showed complete opacification of the right upper lobe. CT scan of the thorax demonstrated an occlusive right upper lobe endobronchial lesion with central necrosis, aortopulmonary and bilateral paratracheal and subcarinal lymphadenopathy. CT scan of the abdomen/pelvis showed diffuse metastatic disease (adrenal glands, pancreas, left kidney, superficial musculature, and retropefitoneal lymph nodes); no adnexal or uterine abnormalities. Pelvic ultrasound was negative for intrauterine or ectopic pregnancy.

Bronchoscopy revealed a large fleshy tumor originating from the right upper lobe and obstructing [is greater than] 80% of the right mainstem bronchus. Bronchial brushings and endobronchial biopsies showed poorly differentiated non-small cell lung carcinoma which stained positive for B-hCG. Shortly after chemotherapy was begun, the patient vomited, aspirated, and was transferred to the intensive care unit (ICU) for severe respiratory distress. Over the next 10 days, the patient's condition deteriorated rapidly and she died from multi-organ system failure.

Discussion: This patient was diagnosed with pulmonary choriocarcinoma on the basis of presentation, elevated B-hCG levels, tissue obtained from primary and metastatic biopsies, and the absence of gynecologic pathology. Although pulmonary choriocarcinoma is rare, the presentation was not unusual. The tumor is extremely aggressive and tends to metastasize early, as exemplified by our patient's diffuse systemic involvement. Unfortunately, this patient's disease was diagnosed at a markedly advanced stage and she succumbed to infection and multiorgan system failure before appropriate treatment could be completed.

Conclusion: Fewer than 20 cases of pulmonary choriocarcinoma are reported in the literature. It is an extremely aggressive tumor that occurs in young women. This presents a significant diagnostic dilemma as many such female patients may often be misdiagnosed as being pregnant or having a, primary gynecologic neoplasm. This is unfortunate because the tumor is highly responsive to combination chemotherapy and relapses can be easily detected by following B-hCG levels. The origin of pulmonary choriocarcinoma is widely debated and conclusions are difficult to make because of the paucity of cases. Theories include the following: 1. pulmonary metastases with a gonadal primary undergoing spontaneous regression, 2. pulmonary embolic satellite lesions from abnormal products of gestation, 3. germ cell origin, 4. primary non-small cell lung carcinoma which undergoes embryonic metaplasia. A higher index of suspicion and more frequent reporting of such cases would enable us not only to study this neoplasm more thoroughly; it would also identify patients at earlier stages of disease who could potentially achieve disease remission.


[1] Aparicio, J, Okra, A, Martinez-Moragon, E, et al. Extragonadal nongestational choriocarcinoma involving the lung: A report of three cases. Respiration 1996; 63:251-253

[2] Pushchak, MJ, Farhi, DC, Primary choriocarcinoma of the lung. Arch Pathol Lab Med 1989; 113:82-83

[3] Tanimura, A, Natsuyama, H, Kawano, M, et al. Primary choriocarcinoma of the lung. Human Pathology 1985; 16:1281-1284

COPYRIGHT 2000 American College of Chest Physicians
COPYRIGHT 2001 Gale Group

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